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Cellular tumor antigen p53 (Antigen NY-CO-13) (Phosphoprotein p53) (Tumor suppressor p53)

 P53_HUMAN               Reviewed;         393 AA.
P04637; Q15086; Q15087; Q15088; Q16535; Q16807; Q16808; Q16809;
Q16810; Q16811; Q16848; Q2XN98; Q3LRW1; Q3LRW2; Q3LRW3; Q3LRW4;
Q3LRW5; Q86UG1; Q8J016; Q99659; Q9BTM4; Q9HAQ8; Q9NP68; Q9NPJ2;
Q9NZD0; Q9UBI2; Q9UQ61;
13-AUG-1987, integrated into UniProtKB/Swiss-Prot.
24-NOV-2009, sequence version 4.
25-OCT-2017, entry version 259.
RecName: Full=Cellular tumor antigen p53;
AltName: Full=Antigen NY-CO-13;
AltName: Full=Phosphoprotein p53;
AltName: Full=Tumor suppressor p53;
Name=TP53; Synonyms=P53;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=4006916;
Zakut-Houri R., Bienz-Tadmor B., Givol D., Oren M.;
"Human p53 cellular tumor antigen: cDNA sequence and expression in COS
cells.";
EMBO J. 4:1251-1255(1985).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANT
GLY-76.
PubMed=2946935; DOI=10.1128/MCB.6.5.1379;
Lamb P., Crawford L.;
"Characterization of the human p53 gene.";
Mol. Cell. Biol. 6:1379-1385(1986).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=3894933; DOI=10.1128/MCB.5.7.1601;
Harlow E., Williamson N.M., Ralston R., Helfman D.M., Adams T.E.;
"Molecular cloning and in vitro expression of a cDNA clone for human
cellular tumor antigen p53.";
Mol. Cell. Biol. 5:1601-1610(1985).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=3025664; DOI=10.1128/MCB.6.12.4650;
Harris N., Brill E., Shohat O., Prokocimer M., Wolf D., Arai N.,
Rotter V.;
"Molecular basis for heterogeneity of the human p53 protein.";
Mol. Cell. Biol. 6:4650-4656(1986).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2905688; DOI=10.1016/0378-1119(88)90196-5;
Buchman V.L., Chumakov P.M., Ninkina N.N., Samarina O.P.,
Georgiev G.P.;
"A variation in the structure of the protein-coding region of the
human p53 gene.";
Gene 70:245-252(1988).
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS SPORADIC CANCERS.
PubMed=1915267;
Farrell P.J., Allan G., Shanahan F., Vousden K.H., Crook T.;
"p53 is frequently mutated in Burkitt's lymphoma cell lines.";
EMBO J. 10:2879-2887(1991).
[7]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LYS-286.
PubMed=8316628;
Allalunis-Turner M.J., Barron G.M., Day R.S. III, Dobler K.D.,
Mirzayans R.;
"Isolation of two cell lines from a human malignant glioma specimen
differing in sensitivity to radiation and chemotherapeutic drugs.";
Radiat. Res. 134:349-354(1993).
[8]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND INTERACTION WITH WWOX.
PubMed=11058590; DOI=10.1074/jbc.M007140200;
Chang N.-S., Pratt N., Heath J., Schultz L., Sleve D., Carey G.B.,
Zevotek N.;
"Hyaluronidase induction of a WW domain-containing oxidoreductase that
enhances tumor necrosis factor cytotoxicity.";
J. Biol. Chem. 276:3361-3370(2001).
[9]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 7; 8 AND 9), SUBCELLULAR
LOCATION, TISSUE SPECIFICITY, ALTERNATIVE PROMOTER USAGE, ALTERNATIVE
SPLICING, INDUCTION, AND VARIANT ARG-72.
TISSUE=Colon;
PubMed=16131611; DOI=10.1101/gad.1339905;
Bourdon J.C., Fernandes K., Murray-Zmijewski F., Liu G., Diot A.,
Xirodimas D.P., Saville M.K., Lane D.P.;
"p53 isoforms can regulate p53 transcriptional activity.";
Genes Dev. 19:2122-2137(2005).
[10]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Chumakov P.M., Almazov V.P., Jenkins J.R.;
Submitted (JUN-1991) to the EMBL/GenBank/DDBJ databases.
[11]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Rozemuller E.H., Tilanus M.G.J.;
"P53 genomic sequence. Corrections and polymorphism.";
Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
[12]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-47; LYS-339 AND
ALA-366.
NIEHS SNPs program;
Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
[13]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LYS-286.
PubMed=11023613; DOI=10.1667/0033-7587(2000)154[0473:HTFTMG]2.0.CO;2;
Anderson C.W., Allalunis-Turner M.J.;
"Human TP53 from the malignant glioma-derived cell lines M059J and
M059K has a cancer-associated mutation in exon 8.";
Radiat. Res. 154:473-476(2000).
[14]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS HIS-273 AND
SER-309.
Azuma K., Shichijo S., Itoh K.;
"Identification of a tumor-rejection antigen recognized by HLA-B46
restricted CTL.";
Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
[15]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
ARG-72.
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[16]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16625196; DOI=10.1038/nature04689;
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
"DNA sequence of human chromosome 17 and analysis of rearrangement in
the human lineage.";
Nature 440:1045-1049(2006).
[17]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-72.
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[18]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
ALA-278.
TISSUE=Kidney;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[19]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-379 (ISOFORM 1), AND VARIANTS ASN-139
AND PRO-155.
TISSUE=Lung carcinoma;
PubMed=14660794; DOI=10.1073/pnas.2536558100;
Kanashiro C.A., Schally A.V., Groot K., Armatis P., Bernardino A.L.,
Varga J.L.;
"Inhibition of mutant p53 expression and growth of DMS-153 small cell
lung carcinoma by antagonists of growth hormone-releasing hormone and
bombesin.";
Proc. Natl. Acad. Sci. U.S.A. 100:15836-15841(2003).
[20]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 101-393.
PubMed=6396087;
Matlashewski G., Lamb P., Pim D., Peacock J., Crawford L.,
Benchimol S.;
"Isolation and characterization of a human p53 cDNA clone: expression
of the human p53 gene.";
EMBO J. 3:3257-3262(1984).
[21]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 126-185.
Pan X.L., Zhang A.H.;
"Study on the effect of tumor suppressor gene p53 in arsenism
patients.";
Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
[22]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 261-298, AND VARIANT GLN-282.
TISSUE=Blood;
Nimri L.F., Owais W., Momani E.;
"Detection of P53 gene mutations and serum p53 antibodies associated
with cigarette smoking.";
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
[23]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 262-306, AND VARIANT VAL-262.
TISSUE=Ovarian adenocarcinoma;
Filippini G., Soldati G.;
Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases.
[24]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 225-260.
TISSUE=Glial cell, and Glial tumor;
Thompson-Hehir J., Davies M.P.A., Green J.A., Halliwell N.,
Joyce K.A., Salisbury J., Sibson D.R., Vergote I., Walker C.;
"Mutation detection utilizing a novel PCR approach for amplification
of the p53 gene from microdissected tissue: application to archival
tumor samples.";
Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
[25]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 225-260.
Yavuz A.S., Farner N.L., Yavuz S., Grammer A.C., Girschick H.J.,
Lipsky P.E.;
"Bcl6 and P53 gene mutations in tonsillar B cells.";
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
[26]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 332-366.
Pinto E.M., Mendonca B.B., Latronico A.C.;
"Allelic variant in intron 9 of TP53 gene.";
Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
[27]
NUCLEAR LOCALIZATION SIGNAL, AND MUTAGENESIS OF LYS-319; LYS-320 AND
LYS-321.
PubMed=2156209;
Addison C., Jenkins J.R., Sturzbecher H.-W.;
"The p53 nuclear localisation signal is structurally linked to a
p34cdc2 kinase motif.";
Oncogene 5:423-426(1990).
[28]
PHOSPHORYLATION BY P60/CDC2 AND CYCLIN B/CDC2.
PubMed=2141171; DOI=10.1073/pnas.87.12.4766;
Bischoff J.R., Friedman P.N., Marshak D.R., Prives C., Beach D.;
"Human p53 is phosphorylated by p60-cdc2 and cyclin B-cdc2.";
Proc. Natl. Acad. Sci. U.S.A. 87:4766-4770(1990).
[29]
PHOSPHORYLATION.
PubMed=1705009; DOI=10.1128/MCB.11.3.1598;
Samad A., Carroll R.B.;
"The tumor suppressor p53 is bound to RNA by a stable covalent
linkage.";
Mol. Cell. Biol. 11:1598-1606(1991).
[30]
DEPHOSPHORYLATION BY PP2A.
PubMed=1848668; DOI=10.1128/MCB.11.4.1996;
Scheidtmann K.H., Mumby M.C., Rundell K., Walter G.;
"Dephosphorylation of simian virus 40 large-T antigen and p53 protein
by protein phosphatase 2A: inhibition by small-t antigen.";
Mol. Cell. Biol. 11:1996-2003(1991).
[31]
ALTERNATIVE SPLICING.
PubMed=8632903;
Flaman J.-M., Waridel F., Estreicher A., Vannier A., Limacher J.-M.,
Gilbert D., Iggo R., Frebourg T.;
"The human tumour suppressor gene p53 is alternatively spliced in
normal cells.";
Oncogene 12:813-818(1996).
[32]
GLYCOSYLATION.
PubMed=8632915;
Shaw P., Freeman J., Bovey R., Iggo R.;
"Regulation of specific DNA binding by p53: evidence for a role for O-
glycosylation and charged residues at the carboxy-terminus.";
Oncogene 12:921-930(1996).
[33]
PHOSPHORYLATION AT SER-33.
PubMed=9372954; DOI=10.1128/MCB.17.12.7220;
Ko L.J., Shieh S.-Y., Chen X., Jayaraman L., Tamai K., Taya Y.,
Prives C., Pan Z.-Q.;
"p53 is phosphorylated by CDK7-cyclin H in a p36MAT1-dependent
manner.";
Mol. Cell. Biol. 17:7220-7229(1997).
[34]
FUNCTION, AND IDENTIFICATION IN COMPLEX WITH CAK.
PubMed=9840937; DOI=10.1038/sj.onc.1202504;
Schneider E., Montenarh M., Wagner P.;
"Regulation of CAK kinase activity by p53.";
Oncogene 17:2733-2741(1998).
[35]
SUMOYLATION AT LYS-386, AND MUTAGENESIS OF LYS-386.
Gostissa M., Hengstermann A., Fogal V., Sandy P., Schwarz S.E.,
Scheffner M., Del Sal G.;
"Activation of p53 by conjugation to the ubiquitin-like protein SUMO-
1.";
EMBO J. 18:6462-6471(1999).
[36]
PHOSPHORYLATION AT THR-18 BY CSNK1D/CK1.
PubMed=10606744; DOI=10.1016/S0014-5793(99)01647-6;
Dumaz N., Milne D.M., Meek D.W.;
"Protein kinase CK1 is a p53-threonine 18 kinase which requires prior
phosphorylation of serine 15.";
FEBS Lett. 463:312-316(1999).
[37]
BIPARTITE NUCLEAR LOCALIZATION SIGNAL, AND CHARACTERIZATION OF VARIANT
ASN-305.
PubMed=10551826; DOI=10.1074/jbc.274.46.32699;
Liang S.H., Clarke M.F.;
"A bipartite nuclear localization signal is required for p53 nuclear
import regulated by a carboxyl-terminal domain.";
J. Biol. Chem. 274:32699-32703(1999).
[38]
PHOSPHORYLATION AT SER-15 AND SER-20, INDUCTION BY DNA DAMAGE,
CHARACTERIZATION OF LFS VARIANT HIS-273, MUTAGENESIS OF THR-18; SER-20
AND 22-LEU-TRP-23, SUBCELLULAR LOCATION, AND INTERACTION WITH PML AND
MDM2.
PubMed=10570149; DOI=10.1073/pnas.96.24.13777;
Chehab N.H., Malikzay A., Stavridi E.S., Halazonetis T.D.;
"Phosphorylation of Ser-20 mediates stabilization of human p53 in
response to DNA damage.";
Proc. Natl. Acad. Sci. U.S.A. 96:13777-13782(1999).
[39]
UBIQUITINATION.
PubMed=10722742; DOI=10.1074/jbc.275.12.8945;
Fang S., Jensen J.P., Ludwig R.L., Vousden K.H., Weissman A.M.;
"Mdm2 is a RING finger-dependent ubiquitin protein ligase for itself
and p53.";
J. Biol. Chem. 275:8945-8951(2000).
[40]
ACETYLATION AT LYS-373 AND LYS-382.
PubMed=10656795; DOI=10.1006/jmbi.1999.3415;
Abraham J., Kelly J., Thibault P., Benchimol S.;
"Post-translational modification of p53 protein in response to
ionizing radiation analyzed by mass spectrometry.";
J. Mol. Biol. 295:853-864(2000).
[41]
PHOSPHORYLATION AT SER-315 AND SER-392 BY CDK2, AND MUTAGENESIS OF
LYS-382; LEU-383 AND PHE-385.
PubMed=10884347; DOI=10.1006/jmbi.2000.3830;
Luciani M.G., Hutchins J.R.A., Zheleva D., Hupp T.R.;
"The C-terminal regulatory domain of p53 contains a functional docking
site for cyclin A.";
J. Mol. Biol. 300:503-518(2000).
[42]
FUNCTION, INTERACTION WITH PML, AND SUBCELLULAR LOCATION.
PubMed=11025664; DOI=10.1038/35036365;
Guo A., Salomoni P., Luo J., Shih A., Zhong S., Gu W., Pandolfi P.P.;
"The function of PML in p53-dependent apoptosis.";
Nat. Cell Biol. 2:730-736(2000).
[43]
INTERACTION WITH E4F1.
PubMed=10644996; DOI=10.1038/sj.onc.1203250;
Sandy P., Gostissa M., Fogal V., Cecco L.D., Szalay K., Rooney R.J.,
Schneider C., Del Sal G.;
"p53 is involved in the p120E4F-mediated growth arrest.";
Oncogene 19:188-199(2000).
[44]
PHOSPHORYLATION AT THR-18.
PubMed=10951572; DOI=10.1038/sj.onc.1203709;
Lopez-Borges S., Lazo P.A.;
"The human vaccinia-related kinase 1 (VRK1) phosphorylates threonine-
18 within the mdm-2 binding site of the p53 tumour suppressor
protein.";
Oncogene 19:3656-3664(2000).
[45]
REVIEW ON ZINC-BINDING PROPERTIES.
PubMed=11554448; DOI=10.1089/15230860152542961;
Hainaut P., Mann K.;
"Zinc binding and redox control of p53 structure and function.";
Antioxid. Redox Signal. 3:611-623(2001).
[46]
PHOSPHORYLATION AT SER-15.
PubMed=11554766; DOI=10.1006/bbrc.2001.5627;
Imamura K., Ogura T., Kishimoto A., Kaminishi M., Esumi H.;
"Cell cycle regulation via p53 phosphorylation by a 5'-AMP activated
protein kinase activator, 5-aminoimidazole-4-carboxamide-1-beta-D-
ribofuranoside, in a human hepatocellular carcinoma cell line.";
Biochem. Biophys. Res. Commun. 287:562-567(2001).
[47]
DEACETYLATION AT LYS-382 BY SIRT1.
PubMed=11672523; DOI=10.1016/S0092-8674(01)00527-X;
Vaziri H., Dessain S.K., Ng Eaton E., Imai S., Frye R.A.,
Pandita T.K., Guarente L., Weinberg R.A.;
"hSIR2(SIRT1) functions as an NAD-dependent p53 deacetylase.";
Cell 107:149-159(2001).
[48]
MINIMAL REPRESSION DOMAIN.
PubMed=11007800; DOI=10.1074/jbc.M008231200;
Hong T.M., Chen J.J., Peck K., Yang P.C., Wu C.W.;
"p53 amino acids 339-346 represent the minimal p53 repression
domain.";
J. Biol. Chem. 276:1510-1515(2001).
[49]
PHOSPHORYLATION AT SER-20 BY PLK3.
PubMed=11447225; DOI=10.1074/jbc.M104157200;
Xie S., Wang Q., Wu H., Cogswell J., Lu L., Jhanwar-Uniyal M., Dai W.;
"Reactive oxygen species-induced phosphorylation of p53 on serine 20
is mediated in part by polo-like kinase-3.";
J. Biol. Chem. 276:36194-36199(2001).
[50]
PHOSPHORYLATION AT SER-20 BY PLK3.
PubMed=11551930; DOI=10.1074/jbc.M106050200;
Xie S., Wu H., Wang Q., Cogswell J.P., Husain I., Conn C.,
Stambrook P., Jhanwar-Uniyal M., Dai W.;
"Plk3 functionally links DNA damage to cell cycle arrest and apoptosis
at least in part via the p53 pathway.";
J. Biol. Chem. 276:43305-43312(2001).
[51]
SUMOYLATION AT LYS-386, SUBCELLULAR LOCATION, AND MUTAGENESIS OF
PHE-385; LYS-386; THR-387 AND GLU-388.
PubMed=11124955; DOI=10.1074/jbc.M009476200;
Rodriguez M.S., Dargemont C., Hay R.T.;
"SUMO-1 conjugation in vivo requires both a consensus modification
motif and nuclear targeting.";
J. Biol. Chem. 276:12654-12659(2001).
[52]
PHOSPHORYLATION BY PRPK.
PubMed=11546806; DOI=10.1074/jbc.M105669200;
Abe Y., Matsumoto S., Wei S., Nezu K., Miyoshi A., Kito K., Ueda N.,
Shigemoto K., Hitsumoto Y., Nikawa J., Enomoto Y.;
"Cloning and characterization of a p53-related protein kinase
expressed in interleukin-2-activated cytotoxic T-cells, epithelial
tumor cell lines, and the testes.";
J. Biol. Chem. 276:44003-44011(2001).
[53]
PHOSPHORYLATION AT SER-392.
PubMed=11239457; DOI=10.1016/S1097-2765(01)00176-9;
Keller D.M., Zeng X., Wang Y., Zhang Q.H., Kapoor M., Shu H.,
Goodman R., Lozano G., Zhao Y., Lu H.;
"A DNA damage-induced p53 serine 392 kinase complex contains CK2,
hSpt16, and SSRP1.";
Mol. Cell 7:283-292(2001).
[54]
INTERACTION WITH USP7.
PubMed=12507430; DOI=10.1016/S0092-8674(02)01199-6;
Hu M., Li P., Li M., Li W., Yao T., Wu J.-W., Gu W., Cohen R.E.,
Shi Y.;
"Crystal structure of a UBP-family deubiquitinating enzyme in
isolation and in complex with ubiquitin aldehyde.";
Cell 111:1041-1054(2002).
[55]
IDENTIFICATION IN A COMPLEX WITH CABLES1 AND TP73.
PubMed=11706030; DOI=10.1074/jbc.M108535200;
Tsuji K., Mizumoto K., Yamochi T., Nishimoto I., Matsuoka M.;
"Differential effect of ik3-1/cables on p53- and p73-induced cell
death.";
J. Biol. Chem. 277:2951-2957(2002).
[56]
INTERACTION WITH HIPK2.
PubMed=11925430; DOI=10.1074/jbc.M200153200;
Kim E.-J., Park J.-S., Um S.-J.;
"Identification and characterization of HIPK2 interacting with p73 and
modulating functions of the p53 family in vivo.";
J. Biol. Chem. 277:32020-32028(2002).
[57]
INTERACTION WITH HIPK2, PHOSPHORYLATION AT SER-46, AND MUTAGENESIS OF
SER-46 AND LYS-382.
PubMed=11740489; DOI=10.1038/ncb715;
Hofmann T.G., Moeller A., Sirma H., Zentgraf H., Taya Y., Droege W.,
Will H., Schmitz M.L.;
"Regulation of p53 activity by its interaction with homeodomain-
interacting protein kinase-2.";
Nat. Cell Biol. 4:1-10(2002).
[58]
INTERACTION WITH HIPK2, AND PHOSPHORYLATION AT SER-46.
PubMed=11780126; DOI=10.1038/ncb714;
D'Orazi G., Cecchinelli B., Bruno T., Manni I., Higashimoto Y.,
Saito S., Gostissa M., Coen S., Marchetti A., Del Sal G., Piaggio G.,
Fanciulli M., Appella E., Soddu S.;
"Homeodomain-interacting protein kinase-2 phosphorylates p53 at Ser 46
and mediates apoptosis.";
Nat. Cell Biol. 4:11-19(2002).
[59]
INTERACTION WITH ING4.
PubMed=12750254;
Shiseki M., Nagashima M., Pedeux R.M., Kitahama-Shiseki M., Miura K.,
Okamura S., Onogi H., Higashimoto Y., Appella E., Yokota J.,
Harris C.C.;
"p29ING4 and p28ING5 bind to p53 and p300, and enhance p53 activity.";
Cancer Res. 63:2373-2378(2003).
[60]
ACETYLATION AT LYS-305.
PubMed=12724314; DOI=10.1074/jbc.M212574200;
Wang Y.H., Tsay Y.G., Tan B.C., Lo W.Y., Lee S.C.;
"Identification and characterization of a novel p300-mediated p53
acetylation site, lysine 305.";
J. Biol. Chem. 278:25568-25576(2003).
[61]
FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH CHEK2 AND PML,
UBIQUITINATION BY MDM2, AND PHOSPHORYLATION AT SER-20.
PubMed=12810724; DOI=10.1074/jbc.M301264200;
Louria-Hayon I., Grossman T., Sionov R.V., Alsheich O., Pandolfi P.P.,
Haupt Y.;
"The promyelocytic leukemia protein protects p53 from Mdm2-mediated
inhibition and degradation.";
J. Biol. Chem. 278:33134-33141(2003).
[62]
INTERACTION WITH TP53INP1.
PubMed=12851404; DOI=10.1074/jbc.M301979200;
Tomasini R., Samir A.A., Carrier A., Isnardon D., Cecchinelli B.,
Soddu S., Malissen B., Dagorn J.-C., Iovanna J.L., Dusetti N.J.;
"TP53INP1s and homeodomain-interacting protein kinase-2 (HIPK2) are
partners in regulating p53 activity.";
J. Biol. Chem. 278:37722-37729(2003).
[63]
NUCLEOCYTOPLASMIC SHUTTLING, AND NUCLEAR EXPORT SIGNAL.
PubMed=12944468; DOI=10.1128/MCB.23.18.6396-6405.2003;
O'Keefe K., Li H., Zhang Y.;
"Nucleocytoplasmic shuttling of p53 is essential for MDM2-mediated
cytoplasmic degradation but not ubiquitination.";
Mol. Cell. Biol. 23:6396-6405(2003).
[64]
INTERACTION WITH HIPK1.
PubMed=12702766; DOI=10.1073/pnas.0530308100;
Kondo S., Lu Y., Debbas M., Lin A.W., Sarosi I., Itie A., Wakeham A.,
Tuan J., Saris C., Elliott G., Ma W., Benchimol S., Lowe S.W.,
Mak T.W., Thukral S.K.;
"Characterization of cells and gene-targeted mice deficient for the
p53-binding kinase homeodomain-interacting protein kinase 1 (HIPK1).";
Proc. Natl. Acad. Sci. U.S.A. 100:5431-5436(2003).
[65]
INTERACTION WITH CDKN2AIP.
PubMed=15109303; DOI=10.1042/BJ20040337;
Hasan M.K., Yaguchi T., Minoda Y., Hirano T., Taira K., Wadhwa R.,
Kaul S.C.;
"Alternative reading frame protein (ARF)-independent function of CARF
(collaborator of ARF) involves its interactions with p53: evidence for
a novel p53-activation pathway and its negative feedback control.";
Biochem. J. 380:605-610(2004).
[66]
INTERACTION WITH HRMT1L2; EP300 AND CARM1, AND FUNCTION.
PubMed=15186775; DOI=10.1016/j.cell.2004.05.009;
An W., Kim J., Roeder R.G.;
"Ordered cooperative functions of PRMT1, p300, and CARM1 in
transcriptional activation by p53.";
Cell 117:735-748(2004).
[67]
INTERACTION WITH ANKRD2.
PubMed=15136035; DOI=10.1016/j.jmb.2004.03.071;
Kojic S., Medeot E., Guccione E., Krmac H., Zara I., Martinelli V.,
Valle G., Faulkner G.;
"The Ankrd2 protein, a link between the sarcomere and the nucleus in
skeletal muscle.";
J. Mol. Biol. 339:313-325(2004).
[68]
PHOSPHORYLATION AT THR-55, MUTAGENESIS OF THR-55, AND INTERACTION WITH
TAF1.
PubMed=15053879; DOI=10.1016/S1097-2765(04)00123-6;
Li H.-H., Li A.G., Sheppard H.M., Liu X.;
"Phosphorylation on Thr-55 by TAF1 mediates degradation of p53: a role
for TAF1 in cell G1 progression.";
Mol. Cell 13:867-878(2004).
[69]
DEUBIQUITINATION BY USP7.
PubMed=15053880; DOI=10.1016/S1097-2765(04)00157-1;
Li M., Brooks C.L., Kon N., Gu W.;
"A dynamic role of HAUSP in the p53-Mdm2 pathway.";
Mol. Cell 13:879-886(2004).
[70]
ALTERNATIVE SPLICING (ISOFORM 4), FUNCTION, SUBCELLULAR LOCATION, AND
UBIQUITINATION.
PubMed=15340061; DOI=10.1128/MCB.24.18.7987-7997.2004;
Ghosh A., Stewart D., Matlashewski G.;
"Regulation of human p53 activity and cell localization by alternative
splicing.";
Mol. Cell. Biol. 24:7987-7997(2004).
[71]
METHYLATION AT LYS-372, AND MUTAGENESIS OF LYS-372.
PubMed=15525938; DOI=10.1038/nature03117;
Chuikov S., Kurash J.K., Wilson J.R., Xiao B., Justin N., Ivanov G.S.,
McKinney K., Tempst P., Prives C., Gamblin S.J., Barlev N.A.,
Reinberg D.;
"Regulation of p53 activity through lysine methylation.";
Nature 432:353-360(2004).
[72]
INTERACTION WITH AURKA, AND PHOSPHORYLATION AT SER-315.
PubMed=14702041; DOI=10.1038/ng1279;
Katayama H., Sasai K., Kawai H., Yuan Z.M., Bondaruk J., Suzuki F.,
Fujii S., Arlinghaus R.B., Czerniak B.A., Sen S.;
"Phosphorylation by aurora kinase A induces Mdm2-mediated
destabilization and inhibition of p53.";
Nat. Genet. 36:55-62(2004).
[73]
INTERACTION WITH NOC2L.
PubMed=16322561; DOI=10.1101/gad.351205;
Hublitz P., Kunowska N., Mayer U.P., Muller J.M., Heyne K., Yin N.,
Fritzsche C., Poli C., Miguet L., Schupp I.W., van Grunsven L.A.,
Potiers N., van Dorsselaer A., Metzger E., Roemer K., Schule R.;
"NIR is a novel INHAT repressor that modulates the transcriptional
activity of p53.";
Genes Dev. 19:2912-2924(2005).
[74]
INTERACTION WITH BANP, SUBCELLULAR LOCATION, AND PHOSPHORYLATION AT
SER-15.
PubMed=15701641; DOI=10.1074/jbc.M413200200;
Jalota-Badhwar A., Singh K., Pavithra L., Kaul-Ghanekar R., Jameel S.,
Chattopadhyay S.;
"Tumor suppressor SMAR1 activates and stabilizes p53 through its
arginine-serine-rich motif.";
J. Biol. Chem. 280:16019-16029(2005).
[75]
INTERACTION WITH PTK2/FAK1.
PubMed=15855171; DOI=10.1074/jbc.M414172200;
Golubovskaya V.M., Finch R., Cance W.G.;
"Direct interaction of the N-terminal domain of focal adhesion kinase
with the N-terminal transactivation domain of p53.";
J. Biol. Chem. 280:25008-25021(2005).
[76]
INTERACTION WITH WWOX, AND MUTAGENESIS OF SER-46.
PubMed=16219768; DOI=10.1074/jbc.M505590200;
Chang N.-S., Doherty J., Ensign A., Schultz L., Hsu L.-J., Hong Q.;
"WOX1 is essential for tumor necrosis factor-, UV light-,
staurosporine-, and p53-mediated cell death, and its tyrosine 33-
phosphorylated form binds and stabilizes serine 46-phosphorylated
p53.";
J. Biol. Chem. 280:43100-43108(2005).
[77]
PHOSPHORYLATION AT SER-15.
PubMed=15866171; DOI=10.1016/j.molcel.2005.03.027;
Jones R.G., Plas D.R., Kubek S., Buzzai M., Mu J., Xu Y.,
Birnbaum M.J., Thompson C.B.;
"AMP-activated protein kinase induces a p53-dependent metabolic
checkpoint.";
Mol. Cell 18:283-293(2005).
[78]
INTERACTION WITH STK11/LKB1, AND PHOSPHORYLATION AT SER-15 AND
SER-392.
PubMed=17108107; DOI=10.1158/0008-5472.CAN-06-0999;
Zeng P.Y., Berger S.L.;
"LKB1 is recruited to the p21/WAF1 promoter by p53 to mediate
transcriptional activation.";
Cancer Res. 66:10701-10708(2006).
[79]
PHOSPHORYLATION AT THR-18.
PubMed=16704422; DOI=10.1111/j.1742-4658.2006.05256.x;
Blanco S., Klimcakova L., Vega F.M., Lazo P.A.;
"The subcellular localization of vaccinia-related kinase-2 (VRK2)
isoforms determines their different effect on p53 stability in tumour
cell lines.";
FEBS J. 273:2487-2504(2006).
[80]
INTERACTION WITH YWHAZ.
PubMed=16376338; DOI=10.1016/j.febslet.2005.12.024;
Gu Y.-M., Jin Y.-H., Choi J.-K., Baek K.-H., Yeo C.-Y., Lee K.-Y.;
"Protein kinase A phosphorylates and regulates dimerization of 14-3-3
epsilon.";
FEBS Lett. 580:305-310(2006).
[81]
PHOSPHORYLATION AT SER-46, AND INTERACTION WITH PRKCG.
PubMed=16377624; DOI=10.1074/jbc.M512074200;
Yoshida K., Liu H., Miki Y.;
"Protein kinase C delta regulates Ser46 phosphorylation of p53 tumor
suppressor in the apoptotic response to DNA damage.";
J. Biol. Chem. 281:5734-5740(2006).
[82]
METHYLATION AT LYS-370, AND MUTAGENESIS OF LYS-370.
PubMed=17108971; DOI=10.1038/nature05287;
Huang J., Perez-Burgos L., Placek B.J., Sengupta R., Richter M.,
Dorsey J.A., Kubicek S., Opravil S., Jenuwein T., Berger S.L.;
"Repression of p53 activity by Smyd2-mediated methylation.";
Nature 444:629-632(2006).
[83]
INTERACTION WITH DAXX.
PubMed=16845383; DOI=10.1038/ncb1442;
Tang J., Qu L.K., Zhang J., Wang W., Michaelson J.S., Degenhardt Y.Y.,
El-Deiry W.S., Yang X.;
"Critical role for Daxx in regulating Mdm2.";
Nat. Cell Biol. 8:855-862(2006).
[84]
MOTIF, AND METHYLATION AT LYS-372.
PubMed=16415881; DOI=10.1038/nsmb1045;
Couture J.-F., Collazo E., Hauk G., Trievel R.C.;
"Structural basis for the methylation site specificity of SET7/9.";
Nat. Struct. Mol. Biol. 13:140-146(2006).
[85]
INTERACTION WITH POU4F2.
PubMed=17145718; DOI=10.1093/nar/gkl878;
Budhram-Mahadeo V.S., Bowen S., Lee S., Perez-Sanchez C., Ensor E.,
Morris P.J., Latchman D.S.;
"Brn-3b enhances the pro-apoptotic effects of p53 but not its
induction of cell cycle arrest by cooperating in trans-activation of
bax expression.";
Nucleic Acids Res. 34:6640-6652(2006).
[86]
PHOSPHORYLATION AT SER-37, AND MUTAGENESIS OF SER-37.
PubMed=17254968; DOI=10.1016/j.cell.2006.11.050;
Sun P., Yoshizuka N., New L., Moser B.A., Li Y., Liao R., Xie C.,
Chen J., Deng Q., Yamout M., Dong M.Q., Frangou C.G., Yates J.R. III,
Wright P.E., Han J.;
"PRAK is essential for ras-induced senescence and tumor suppression.";
Cell 128:295-308(2007).
[87]
INTERACTION WITH ZNF385A, AND CHARACTERIZATION OF VARIANTS ALA-143;
HIS-175 AND PRO-175.
PubMed=17719541; DOI=10.1016/j.cell.2007.06.013;
Das S., Raj L., Zhao B., Kimura Y., Bernstein A., Aaronson S.A.,
Lee S.W.;
"Hzf Determines cell survival upon genotoxic stress by modulating p53
transactivation.";
Cell 130:624-637(2007).
[88]
UBIQUITINATION, INTERACTION WITH SYVN1, AND SUBCELLULAR LOCATION.
PubMed=17170702; DOI=10.1038/sj.emboj.7601490;
Yamasaki S., Yagishita N., Sasaki T., Nakazawa M., Kato Y.,
Yamadera T., Bae E., Toriyama S., Ikeda R., Zhang L., Fujitani K.,
Yoo E., Tsuchimochi K., Ohta T., Araya N., Fujita H., Aratani S.,
Eguchi K., Komiya S., Maruyama I., Higashi N., Sato M., Senoo H.,
Ochi T., Yokoyama S., Amano T., Kim J., Gay S., Fukamizu A.,
Nishioka K., Tanaka K., Nakajima T.;
"Cytoplasmic destruction of p53 by the endoplasmic reticulum-resident
ubiquitin ligase 'Synoviolin'.";
EMBO J. 26:113-122(2007).
[89]
INTERACTION WITH PPP2CA; PPP2R1A; PPP2R2A AND PPP2R5C.
PubMed=17245430; DOI=10.1038/sj.emboj.7601519;
Li H.H., Cai X., Shouse G.P., Piluso L.G., Liu X.;
"A specific PP2A regulatory subunit, B56gamma, mediates DNA damage-
induced dephosphorylation of p53 at Thr55.";
EMBO J. 26:402-411(2007).
[90]
INTERACTION WITH ARMC10.
PubMed=17904127; DOI=10.1016/j.febslet.2007.09.025;
Zhou X., Yang G., Huang R., Chen X., Hu G.;
"SVH-B interacts directly with p53 and suppresses the transcriptional
activity of p53.";
FEBS Lett. 581:4943-4948(2007).
[91]
PHOSPHORYLATION AT SER-9.
PubMed=18022393; DOI=10.1016/j.febslet.2007.11.022;
Arai S., Matsushita A., Du K., Yagi K., Okazaki Y., Kurokawa R.;
"Novel homeodomain-interacting protein kinase family member, HIPK4,
phosphorylates human p53 at serine 9.";
FEBS Lett. 581:5649-5657(2007).
[92]
DOMAIN.
PubMed=17467953; DOI=10.1016/j.ygeno.2007.02.003;
Piskacek S., Gregor M., Nemethova M., Grabner M., Kovarik P.,
Piskacek M.;
"Nine-amino-acid transactivation domain: establishment and prediction
utilities.";
Genomics 89:756-768(2007).
[93]
INTERACTION WITH RFFL AND RNF34.
PubMed=17121812; DOI=10.1074/jbc.M610793200;
Yang W., Rozan L.M., McDonald E.R. III, Navaraj A., Liu J.J.,
Matthew E.M., Wang W., Dicker D.T., El-Deiry W.S.;
"CARPs are ubiquitin ligases that promote MDM2-independent p53 and
phospho-p53ser20 degradation.";
J. Biol. Chem. 282:3273-3281(2007).
[94]
FUNCTION, AND INTERACTION WITH MAML1.
PubMed=17317671; DOI=10.1074/jbc.M608974200;
Zhao Y., Katzman R.B., Delmolino L.M., Bhat I., Zhang Y.,
Gurumurthy C.B., Germaniuk-Kurowska A., Reddi H.V., Solomon A.,
Zeng M.S., Kung A., Ma H., Gao Q., Dimri G., Stanculescu A., Miele L.,
Wu L., Griffin J.D., Wazer D.E., Band H., Band V.;
"The notch regulator MAML1 interacts with p53 and functions as a
coactivator.";
J. Biol. Chem. 282:11969-11981(2007).
[95]
PHOSPHORYLATION AT SER-15; SER-33 AND SER-46, INTERACTION WITH CDK5,
AND SUBCELLULAR LOCATION.
PubMed=17591690; DOI=10.1242/jcs.03468;
Lee J.-H., Kim H.-S., Lee S.-J., Kim K.-T.;
"Stabilization and activation of p53 induced by Cdk5 contributes to
neuronal cell death.";
J. Cell Sci. 120:2259-2271(2007).
[96]
INTERACTION WITH MORC3.
PubMed=17332504; DOI=10.1091/mbc.E06-08-0747;
Takahashi K., Yoshida N., Murakami N., Kawata K., Ishizaki H.,
Tanaka-Okamoto M., Miyoshi J., Zinn A.R., Shime H., Inoue N.;
"Dynamic regulation of p53 subnuclear localization and senescence by
MORC3.";
Mol. Biol. Cell 18:1701-1709(2007).
[97]
FUNCTION, PHOSPHORYLATION AT SER-46, AND MUTAGENESIS OF SER-46.
PubMed=17349958; DOI=10.1016/j.molcel.2007.02.007;
Taira N., Nihira K., Yamaguchi T., Miki Y., Yoshida K.;
"DYRK2 is targeted to the nucleus and controls p53 via Ser46
phosphorylation in the apoptotic response to DNA damage.";
Mol. Cell 25:725-738(2007).
[98]
DEMETHYLATION BY KDM1A.
PubMed=17805299; DOI=10.1038/nature06092;
Huang J., Sengupta R., Espejo A.B., Lee M.G., Dorsey J.A., Richter M.,
Opravil S., Shiekhattar R., Bedford M.T., Jenuwein T., Berger S.L.;
"p53 is regulated by the lysine demethylase LSD1.";
Nature 449:105-108(2007).
[99]
METHYLATION AT LYS-382, AND MUTAGENESIS OF LYS-382.
PubMed=17707234; DOI=10.1016/j.molcel.2007.07.012;
Shi X., Kachirskaia I., Yamaguchi H., West L.E., Wen H., Wang E.W.,
Dutta S., Appella E., Gozani O.;
"Modulation of p53 function by SET8-mediated methylation at lysine
382.";
Mol. Cell 27:636-646(2007).
[100]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Embryonic kidney;
PubMed=17525332; DOI=10.1126/science.1140321;
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III,
Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N.,
Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.;
"ATM and ATR substrate analysis reveals extensive protein networks
responsive to DNA damage.";
Science 316:1160-1166(2007).
[101]
ACETYLATION, AND DEACETYLATION BY SIRT2.
PubMed=18249187; DOI=10.1016/j.bbrc.2008.01.114;
Jin Y.H., Kim Y.J., Kim D.W., Baek K.H., Kang B.Y., Yeo C.Y.,
Lee K.Y.;
"Sirt2 interacts with 14-3-3 beta/gamma and down-regulates the
activity of p53.";
Biochem. Biophys. Res. Commun. 368:690-695(2008).
[102]
INTERACTION WITH SETD2.
PubMed=18585004; DOI=10.1016/j.cellsig.2008.05.012;
Xie P., Tian C., An L., Nie J., Lu K., Xing G., Zhang L., He F.;
"Histone methyltransferase protein SETD2 interacts with p53 and
selectively regulates its downstream genes.";
Cell. Signal. 20:1671-1678(2008).
[103]
UBIQUITINATION, AND SUBCELLULAR LOCATION.
PubMed=18206965; DOI=10.1016/j.molcel.2007.11.031;
Lim S.T., Chen X.L., Lim Y., Hanson D.A., Vo T.T., Howerton K.,
Larocque N., Fisher S.J., Schlaepfer D.D., Ilic D.;
"Nuclear FAK promotes cell proliferation and survival through FERM-
enhanced p53 degradation.";
Mol. Cell 29:9-22(2008).
[104]
INTERACTION WITH PPP2CA; PPP2R1A AND PPP2R5C, PHOSPHORYLATION AT
SER-15 BY ATM, AND MUTAGENESIS OF SER-15.
PubMed=17967874; DOI=10.1128/MCB.00983-07;
Shouse G.P., Cai X., Liu X.;
"Serine 15 phosphorylation of p53 directs its interaction with
B56gamma and the tumor suppressor activity of B56gamma-specific
protein phosphatase 2A.";
Mol. Cell. Biol. 28:448-456(2008).
[105]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=19413330; DOI=10.1021/ac9004309;
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
Mohammed S.;
"Lys-N and trypsin cover complementary parts of the phosphoproteome in
a refined SCX-based approach.";
Anal. Chem. 81:4493-4501(2009).
[106]
INTERACTION WITH MKRN1, MUTAGENESIS OF 291-LYS-LYS-292, AND
UBIQUITINATION AT LYS-291 AND LYS-292 BY MKRN1.
PubMed=19536131; DOI=10.1038/emboj.2009.164;
Lee E.-W., Lee M.-S., Camus S., Ghim J., Yang M.-R., Oh W., Ha N.-C.,
Lane D.P., Song J.;
"Differential regulation of p53 and p21 by MKRN1 E3 ligase controls
cell cycle arrest and apoptosis.";
EMBO J. 28:2100-2113(2009).
[107]
UBIQUITINATION BY TOPORS.
PubMed=19473992; DOI=10.1074/jbc.C109.001560;
Yang X., Li H., Zhou Z., Wang W.H., Deng A., Andrisani O., Liu X.;
"Plk1-mediated phosphorylation of Topors regulates p53 stability.";
J. Biol. Chem. 284:18588-18592(2009).
[108]
INTERACTION WITH MTA1 AND RFWD2, AND UBIQUITINATION.
PubMed=19837670; DOI=10.1074/jbc.M109.056499;
Li D.Q., Divijendra Natha Reddy S., Pakala S.B., Wu X., Zhang Y.,
Rayala S.K., Kumar R.;
"MTA1 coregulator regulates p53 stability and function.";
J. Biol. Chem. 284:34545-34552(2009).
[109]
INTERACTION WITH HHV-5 PROTEIN UL123.
PubMed=19776115; DOI=10.1128/JVI.00304-09;
Hwang E.S., Zhang Z., Cai H., Huang D.Y., Huong S.M., Cha C.Y.,
Huang E.S.;
"Human cytomegalovirus IE1-72 protein interacts with p53 and inhibits
p53-dependent transactivation by a mechanism different from that of
IE2-86 protein.";
J. Virol. 83:12388-12398(2009).
[110]
INTERACTION WITH FBXO42.
PubMed=19509332; DOI=10.1073/pnas.0901864106;
Sun L., Shi L., Li W., Yu W., Liang J., Zhang H., Yang X., Wang Y.,
Li R., Yao X., Yi X., Shang Y.;
"JFK, a Kelch domain-containing F-box protein, links the SCF complex
to p53 regulation.";
Proc. Natl. Acad. Sci. U.S.A. 106:10195-10200(2009).
[111]
FUNCTION, UBIQUITINATION, AND INTERACTION WITH TRIM24.
PubMed=19556538; DOI=10.1073/pnas.0813177106;
Allton K., Jain A.K., Herz H.M., Tsai W.W., Jung S.Y., Qin J.,
Bergmann A., Johnson R.L., Barton M.C.;
"Trim24 targets endogenous p53 for degradation.";
Proc. Natl. Acad. Sci. U.S.A. 106:11612-11616(2009).
[112]
ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-381 AND LYS-382, AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=19608861; DOI=10.1126/science.1175371;
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
Walther T.C., Olsen J.V., Mann M.;
"Lysine acetylation targets protein complexes and co-regulates major
cellular functions.";
Science 325:834-840(2009).
[113]
UBIQUITINATION, AND DEUBIQUITINATION BY USP10.
PubMed=20096447; DOI=10.1016/j.cell.2009.12.032;
Yuan J., Luo K., Zhang L., Cheville J.C., Lou Z.;
"USP10 regulates p53 localization and stability by deubiquitinating
p53.";
Cell 140:384-396(2010).
[114]
FUNCTION.
PubMed=20673990; DOI=10.1016/j.cell.2010.06.040;
Huarte M., Guttman M., Feldser D., Garber M., Koziol M.J.,
Kenzelmann-Broz D., Khalil A.M., Zuk O., Amit I., Rabani M.,
Attardi L.D., Regev A., Lander E.S., Jacks T., Rinn J.L.;
"A large intergenic noncoding RNA induced by p53 mediates global gene
repression in the p53 response.";
Cell 142:409-419(2010).
[115]
PHOSPHORYLATION AT SER-20 BY CSNK1D/CK1.
PubMed=20041275; DOI=10.1007/s00018-009-0236-7;
Venerando A., Marin O., Cozza G., Bustos V.H., Sarno S., Pinna L.A.;
"Isoform specific phosphorylation of p53 by protein kinase CK1.";
Cell. Mol. Life Sci. 67:1105-1118(2010).
[116]
INTERACTION WITH SNAI1, CHARACTERIZATION OF VARIANTS LEU-110; PRO-155;
HIS-175; SER-232; SER-249; HIS-273 AND TRP-282, AND MUTAGENESIS OF
ARG-248.
PubMed=20385133; DOI=10.1016/j.febslet.2010.04.006;
Lim S.O., Kim H., Jung G.;
"p53 inhibits tumor cell invasion via the degradation of snail protein
in hepatocellular carcinoma.";
FEBS Lett. 584:2231-2236(2010).
[117]
INTERACTION WITH PTK2B/PYK2 AND MDM2, UBIQUITINATION, AND SUBCELLULAR
LOCATION.
PubMed=19880522; DOI=10.1074/jbc.M109.064212;
Lim S.T., Miller N.L., Nam J.O., Chen X.L., Lim Y., Schlaepfer D.D.;
"Pyk2 inhibition of p53 as an adaptive and intrinsic mechanism
facilitating cell proliferation and survival.";
J. Biol. Chem. 285:1743-1753(2010).
[118]
METHYLATION AT LYS-373, AND MUTAGENESIS OF LYS-373.
PubMed=20118233; DOI=10.1074/jbc.M109.062588;
Huang J., Dorsey J., Chuikov S., Perez-Burgos L., Zhang X.,
Jenuwein T., Reinberg D., Berger S.L.;
"G9a and Glp methylate lysine 373 in the tumor suppressor p53.";
J. Biol. Chem. 285:9636-9641(2010).
[119]
ERRATUM.
Huang J., Dorsey J., Chuikov S., Perez-Burgos L., Zhang X.,
Jenuwein T., Reinberg D., Berger S.L.;
J. Biol. Chem. 285:18122-18122(2010).
[120]
PHOSPHORYLATION AT THR-55, AND INTERACTION WITH GRK5.
PubMed=20124405; DOI=10.1074/jbc.M109.094243;
Chen X., Zhu H., Yuan M., Fu J., Zhou Y., Ma L.;
"G-protein-coupled receptor kinase 5 phosphorylates p53 and inhibits
DNA damage-induced apoptosis.";
J. Biol. Chem. 285:12823-12830(2010).
[121]
INTERACTION WITH BRD7, AND ACETYLATION AT LYS-382.
PubMed=20228809; DOI=10.1038/ncb2038;
Drost J., Mantovani F., Tocco F., Elkon R., Comel A., Holstege H.,
Kerkhoven R., Jonkers J., Voorhoeve P.M., Agami R., Del Sal G.;
"BRD7 is a candidate tumour suppressor gene required for p53
function.";
Nat. Cell Biol. 12:380-389(2010).
[122]
UBIQUITINATION BY RFWD3.
PubMed=20173098; DOI=10.1073/pnas.0912094107;
Fu X., Yucer N., Liu S., Li M., Yi P., Mu J.J., Yang T., Chu J.,
Jung S.Y., O'Malley B.W., Gu W., Qin J., Wang Y.;
"RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53
stability in response to DNA damage.";
Proc. Natl. Acad. Sci. U.S.A. 107:4579-4584(2010).
[123]
INTERACTION WITH BRD7.
PubMed=20660729; DOI=10.1073/pnas.1009559107;
Burrows A.E., Smogorzewska A., Elledge S.J.;
"Polybromo-associated BRG1-associated factor components BRD7 and
BAF180 are critical regulators of p53 required for induction of
replicative senescence.";
Proc. Natl. Acad. Sci. U.S.A. 107:14280-14285(2010).
[124]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[125]
INTERACTION WITH UHRF2.
PubMed=21952639; DOI=10.4161/cc.10.19.17176;
Mori T., Ikeda D.D., Fukushima T., Takenoshita S., Kochi H.;
"NIRF constitutes a nodal point in the cell cycle network and is a
candidate tumor suppressor.";
Cell Cycle 10:3284-3299(2011).
[126]
FUNCTION, INTERACTION WITH AURKB AND NOC2L, PHOSPHORYLATION AT
SER-183; SER-269 AND THR-284, CHARACTERIZATION OF VARIANT ALA-284,
MUTAGENESIS OF SER-183 AND SER-269, AND IDENTIFICATION BY MASS
SPECTROMETRY.
PubMed=20959462; DOI=10.1074/jbc.M110.174755;
Wu L., Ma C.A., Zhao Y., Jain A.;
"Aurora B interacts with NIR-p53, leading to p53 phosphorylation in
its DNA-binding domain and subsequent functional suppression.";
J. Biol. Chem. 286:2236-2244(2011).
[127]
INVOLVEMENT IN BCC7.
PubMed=21946351; DOI=10.1038/ng.926;
Stacey S.N., Sulem P., Jonasdottir A., Masson G., Gudmundsson J.,
Gudbjartsson D.F., Magnusson O.T., Gudjonsson S.A., Sigurgeirsson B.,
Thorisdottir K., Ragnarsson R., Benediktsdottir K.R., Nexo B.A.,
Tjonneland A., Overvad K., Rudnai P., Gurzau E., Koppova K.,
Hemminki K., Corredera C., Fuentelsaz V., Grasa P., Navarrete S.,
Fuertes F., Garcia-Prats M.D., Sanambrosio E., Panadero A.,
De Juan A., Garcia A., Rivera F., Planelles D., Soriano V.,
Requena C., Aben K.K., van Rossum M.M., Cremers R.G., van Oort I.M.,
van Spronsen D.J., Schalken J.A., Peters W.H., Helfand B.T.,
Donovan J.L., Hamdy F.C., Badescu D., Codreanu O., Jinga M.,
Csiki I.E., Constantinescu V., Badea P., Mates I.N., Dinu D.E.,
Constantin A., Mates D., Kristjansdottir S., Agnarsson B.A.,
Jonsson E., Barkardottir R.B., Einarsson G.V., Sigurdsson F.,
Moller P.H., Stefansson T., Valdimarsson T., Johannsson O.T.,
Sigurdsson H., Jonsson T., Jonasson J.G., Tryggvadottir L., Rice T.,
Hansen H.M., Xiao Y., Lachance D.H., O'Neill B.P., Kosel M.L.,
Decker P.A., Thorleifsson G., Johannsdottir H., Helgadottir H.T.,
Sigurdsson A., Steinthorsdottir V., Lindblom A., Sandler R.S.,
Keku T.O., Banasik K., Jorgensen T., Witte D.R., Hansen T.,
Pedersen O., Jinga V., Neal D.E., Catalona W.J., Wrensch M.,
Wiencke J., Jenkins R.B., Nagore E., Vogel U., Kiemeney L.A.,
Kumar R., Mayordomo J.I., Olafsson J.H., Kong A., Thorsteinsdottir U.,
Rafnar T., Stefansson K.;
"A germline variant in the TP53 polyadenylation signal confers cancer
susceptibility.";
Nat. Genet. 43:1098-1103(2011).
[128]
INTERACTION WITH NUAK1, AND PHOSPHORYLATION AT SER-15 AND SER-392.
PubMed=21317932; DOI=10.1038/onc.2011.19;
Hou X., Liu J.E., Liu W., Liu C.Y., Liu Z.Y., Sun Z.Y.;
"A new role of NUAK1: directly phosphorylating p53 and regulating cell
proliferation.";
Oncogene 30:2933-2942(2011).
[129]
FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH PPIF.
PubMed=22726440; DOI=10.1016/j.cell.2012.05.014;
Vaseva A.V., Marchenko N.D., Ji K., Tsirka S.E., Holzmann S.,
Moll U.M.;
"p53 opens the mitochondrial permeability transition pore to trigger
necrosis.";
Cell 149:1536-1548(2012).
[130]
INTERACTION WITH UBC9, PHOSPHORYLATION AT SER-392, AND SUMOYLATION AT
LYS-386.
PubMed=22214662; DOI=10.4161/cc.11.2.18999;
Bennett R.L., Pan Y., Christian J., Hui T., May W.S. Jr.;
"The RAX/PACT-PKR stress response pathway promotes p53 sumoylation and
activation, leading to G(1) arrest.";
Cell Cycle 11:407-417(2012).
[131]
INTERACTION WITH NOP53.
PubMed=22522597; DOI=10.1038/cdd.2012.40;
Lee S., Kim J.Y., Kim Y.J., Seok K.O., Kim J.H., Chang Y.J.,
Kang H.Y., Park J.H.;
"Nucleolar protein GLTSCR2 stabilizes p53 in response to ribosomal
stresses.";
Cell Death Differ. 19:1613-1622(2012).
[132]
INTERACTION WITH ZNF385B.
PubMed=22945289; DOI=10.1002/eji.201242530;
Iijima K., Yamada H., Miharu M., Imadome K., Miyagawa Y., Akimoto S.,
Kobayashi K., Okita H., Nakazawa A., Fujiwara S., Fujimoto J.,
Kiyokawa N.;
"ZNF385B is characteristically expressed in germinal center B cells
and involved in B-cell apoptosis.";
Eur. J. Immunol. 42:3405-3415(2012).
[133]
METHYLATION AT LYS-370 AND LYS-382.
PubMed=22864287; DOI=10.1038/nsmb.2353;
Cui G., Park S., Badeaux A.I., Kim D., Lee J., Thompson J.R., Yan F.,
Kaneko S., Yuan Z., Botuyan M.V., Bedford M.T., Cheng J.Q., Mer G.;
"PHF20 is an effector protein of p53 double lysine methylation that
stabilizes and activates p53.";
Nat. Struct. Mol. Biol. 19:916-924(2012).
[134]
FUNCTION.
PubMed=24051492; DOI=10.1038/ncomms3444;
Miki T., Matsumoto T., Zhao Z., Lee C.C.;
"p53 regulates Period2 expression and the circadian clock.";
Nat. Commun. 4:2444-2444(2013).
[135]
INTERACTION WITH KAT6A, AND ACETYLATION AT LYS-120 AND LYS-382.
PubMed=23431171; DOI=10.1073/pnas.1300490110;
Rokudai S., Laptenko O., Arnal S.M., Taya Y., Kitabayashi I.,
Prives C.;
"MOZ increases p53 acetylation and premature senescence through its
complex formation with PML.";
Proc. Natl. Acad. Sci. U.S.A. 110:3895-3900(2013).
[136]
INTERACTION WITH UBD.
PubMed=25422469; DOI=10.1073/pnas.1403383111;
Theng S.S., Wang W., Mah W.C., Chan C., Zhuo J., Gao Y., Qin H.,
Lim L., Chong S.S., Song J., Lee C.G.;
"Disruption of FAT10-MAD2 binding inhibits tumor progression.";
Proc. Natl. Acad. Sci. U.S.A. 111:E5282-E5291(2014).
[137]
UBIQUITINATION.
PubMed=25591766; DOI=10.1159/000369691;
Yang L., Zhou B., Li X., Lu Z., Li W., Huo X., Miao Z.;
"RNF125 is a ubiquitin-protein ligase that promotes p53 degradation.";
Cell. Physiol. Biochem. 35:237-245(2015).
[138]
INTERACTION WITH HADV5 E1B-55K.
PubMed=25772236; DOI=10.1038/onc.2015.63;
Wimmer P., Berscheminski J., Blanchette P., Groitl P., Branton P.E.,
Hay R.T., Dobner T., Schreiner S.;
"PML isoforms IV and V contribute to adenovirus-mediated oncogenic
transformation by functionally inhibiting the tumor-suppressor p53.";
Oncogene 35:69-82(2016).
[139]
INTERACTION WITH AFG1L, AND SUBCELLULAR LOCATION.
PubMed=27323408; DOI=10.18632/oncotarget.9959;
Cesnekova J., Spacilova J., Hansikova H., Houstek J., Zeman J.,
Stiburek L.;
"LACE1 interacts with p53 and mediates its mitochondrial translocation
and apoptosis.";
Oncotarget 7:47687-47698(2016).
[140]
STRUCTURE BY NMR OF 319-360.
PubMed=8023159; DOI=10.1126/science.8023159;
Clore G.M., Omichinski J.G., Sakaguchi K., Zambrano N., Sakamoto H.,
Appella E., Gronenborn A.M.;
"High-resolution structure of the oligomerization domain of p53 by
multidimensional NMR.";
Science 265:386-391(1994).
[141]
STRUCTURE BY NMR OF 325-355.
PubMed=7773777; DOI=10.1038/nsb1294-877;
Lee W., Harvey T.S., Yin Y., Yau P., Litchfield D., Arrowsmith C.H.;
"Solution structure of the tetrameric minimum transforming domain of
p53.";
Nat. Struct. Biol. 1:877-890(1994).
[142]
STRUCTURE BY NMR OF 326-354.
PubMed=9321402; DOI=10.1093/emboj/16.20.6230;
McCoy M., Stavridi E.S., Waterman J.L., Wieczorek A.M., Opella S.J.,
Halazonetis T.D.;
"Hydrophobic side-chain size is a determinant of the three-dimensional
structure of the p53 oligomerization domain.";
EMBO J. 16:6230-6236(1997).
[143]
X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 94-289.
PubMed=8023157; DOI=10.1126/science.8023157;
Cho Y., Gorina S., Jeffrey P.D., Pavletich N.P.;
"Crystal structure of a p53 tumor suppressor-DNA complex:
understanding tumorigenic mutations.";
Science 265:346-355(1994).
[144]
X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 325-356.
PubMed=7878469; DOI=10.1126/science.7878469;
Jeffrey P.D., Gorina S., Pavletich N.P.;
"Crystal structure of the tetramerization domain of the p53 tumor
suppressor at 1.7 angstroms.";
Science 267:1498-1502(1995).
[145]
X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 13-29 IN COMPLEX WITH MDM2.
PubMed=8875929; DOI=10.1126/science.274.5289.948;
Kussie P.H., Gorina S., Marechal V., Elenbaas B., Moreau J.,
Levine A.J., Pavletich N.P.;
"Structure of the MDM2 oncoprotein bound to the p53 tumor suppressor
transactivation domain.";
Science 274:948-953(1996).
[146]
X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 97-287 IN COMPLEX WITH 53BP2.
PubMed=8875926; DOI=10.1126/science.274.5289.1001;
Gorina S., Pavletich N.P.;
"Structure of the p53 tumor suppressor bound to the ankyrin and SH3
domains of 53BP2.";
Science 274:1001-1005(1996).
[147]
X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 94-312 IN COMPLEX WITH ZINC
IONS, AND SUBUNIT.
PubMed=14534297; DOI=10.1074/jbc.M309732200;
Joerger A.C., Allen M.D., Fersht A.R.;
"Crystal structure of a superstable mutant of human p53 core domain.
Insights into the mechanism of rescuing oncogenic mutations.";
J. Biol. Chem. 279:1291-1296(2004).
[148]
X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 94-293 IN COMPLEX WITH DNA
AND ZINC IONS, AND SUBUNIT.
PubMed=16793544; DOI=10.1016/j.molcel.2006.05.015;
Kitayner M., Rozenberg H., Kessler N., Rabinovich D., Shaulov L.,
Haran T.E., Shakked Z.;
"Structural basis of DNA recognition by p53 tetramers.";
Mol. Cell 22:741-753(2006).
[149]
X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 358-367 IN COMPLEX WITH USP7,
AND INTERACTION WITH USP7.
PubMed=16474402; DOI=10.1038/nsmb1067;
Sheng Y., Saridakis V., Sarkari F., Duan S., Wu T., Arrowsmith C.H.,
Frappier L.;
"Molecular recognition of p53 and MDM2 by USP7/HAUSP.";
Nat. Struct. Mol. Biol. 13:285-291(2006).
[150]
X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) OF 360-368 IN COMPLEX WITH
USP7, MUTAGENESIS OF PRO-359; GLY-361 AND SER-362, AND INTERACTION
WITH USP7.
PubMed=16402859; DOI=10.1371/journal.pbio.0040027;
Hu M., Gu L., Li M., Jeffrey P.D., Gu W., Shi Y.;
"Structural basis of competitive recognition of p53 and MDM2 by
HAUSP/USP7: implications for the regulation of the p53-MDM2 pathway.";
PLoS Biol. 4:228-239(2006).
[151]
X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 377-386, METHYLATION AT
LYS-382, MUTAGENESIS OF LYS-382, AND INTERACTION WITH L3MBTL1.
PubMed=20870725; DOI=10.1074/jbc.M110.139527;
West L.E., Roy S., Lachmi-Weiner K., Hayashi R., Shi X., Appella E.,
Kutateladze T.G., Gozani O.;
"The MBT repeats of L3MBTL1 link SET8-mediated p53 methylation at
lysine 382 to target gene repression.";
J. Biol. Chem. 285:37725-37732(2010).
[152]
REVIEW.
PubMed=8266092; DOI=10.1126/science.8266092;
Harris C.C.;
"p53: at the crossroads of molecular carcinogenesis and risk
assessment.";
Science 262:1980-1981(1993).
[153]
REVIEW ON VARIANTS.
PubMed=1905840; DOI=10.1126/science.1905840;
Hoolstein M., Sidransky D., Vogelstein B., Harris C.C.;
"p53 mutations in human cancers.";
Science 253:49-53(1991).
[154]
REVIEW ON VARIANTS.
PubMed=8829653;
DOI=10.1002/(SICI)1098-1004(1996)7:3<202::AID-HUMU4>3.3.CO;2-5;
de Vries E.M.G., Ricke D.O., de Vries T.N., Hartmann A., Blaszyk H.,
Liao D., Soussi T., Kovach J.S., Sommer S.S.;
"Database of mutations in the p53 and APC tumor suppressor genes
designed to facilitate molecular epidemiological analyses.";
Hum. Mutat. 7:202-213(1996).
[155]
X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) OF 94-312 IN COMPLEX WITH ZINC
IONS.
PubMed=17015838; DOI=10.1073/pnas.0607286103;
Joerger A.C., Ang H.C., Fersht A.R.;
"Structural basis for understanding oncogenic p53 mutations and
designing rescue drugs.";
Proc. Natl. Acad. Sci. U.S.A. 103:15056-15061(2006).
[156]
X-RAY CRYSTALLOGRAPHY (1.54 ANGSTROMS) OF 94-292 OF VARIANT GLN-282.
PubMed=18453682; DOI=10.1107/S0907444908003338;
Tu C., Tan Y.H., Shaw G., Zhou Z., Bai Y., Luo R., Ji X.;
"Impact of low-frequency hotspot mutation R282Q on the structure of
p53 DNA-binding domain as revealed by crystallography at 1.54
angstroms resolution.";
Acta Crystallogr. D 64:471-477(2008).
[157]
X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 94-312 OF VARIANT CYS-202 IN
COMPLEX WITH ZINC IONS AND PHIKAN083.
PubMed=18650397; DOI=10.1073/pnas.0805326105;
Boeckler F.M., Joerger A.C., Jaggi G., Rutherford T.J.,
Veprintsev D.B., Fersht A.R.;
"Targeted rescue of a destabilized mutant of p53 by an in silico
screened drug.";
Proc. Natl. Acad. Sci. U.S.A. 105:10360-10365(2008).
[158]
X-RAY CRYSTALLOGRAPHY (1.2 ANGSTROMS) OF 94-293 OF VARIANT SER-249 IN
COMPLEX WITH DNA.
PubMed=18996393; DOI=10.1016/j.jmb.2008.10.063;
Suad O., Rozenberg H., Brosh R., Diskin-Posner Y., Kessler N.,
Shimon L.J., Frolow F., Liran A., Rotter V., Shakked Z.;
"Structural basis of restoring sequence-specific DNA binding and
transactivation to mutant p53 by suppressor mutations.";
J. Mol. Biol. 385:249-265(2009).
[159]
X-RAY CRYSTALLOGRAPHY (1.75 ANGSTROMS) OF 94-310 IN COMPLEX WITH ZINC
IONS.
PubMed=19515728; DOI=10.1093/protein/gzp018;
Khoo K.H., Joerger A.C., Freund S.M., Fersht A.R.;
"Stabilising the DNA-binding domain of p53 by rational design of its
hydrophobic core.";
Protein Eng. Des. Sel. 22:421-430(2009).
[160]
X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 94-312 OF VARIANT CYS-220 IN
COMPLEX WITH ZINC IONS.
PubMed=20142040; DOI=10.1016/j.chembiol.2009.12.011;
Basse N., Kaar J.L., Settanni G., Joerger A.C., Rutherford T.J.,
Fersht A.R.;
"Toward the rational design of p53-stabilizing drugs: probing the
surface of the oncogenic Y220C mutant.";
Chem. Biol. 17:46-56(2010).
[161]
X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 94-293 IN COMPLEX WITH DNA
AND ZINC IONS, AND SUBUNIT.
PubMed=20364130; DOI=10.1038/nsmb.1800;
Kitayner M., Rozenberg H., Rohs R., Suad O., Rabinovich D., Honig B.,
Shakked Z.;
"Diversity in DNA recognition by p53 revealed by crystal structures
with Hoogsteen base pairs.";
Nat. Struct. Mol. Biol. 17:423-429(2010).
[162]
VARIANT ARG-72.
PubMed=1999338; DOI=10.1007/BF00201836;
Olschwang S., Laurent-Puig P., Vassal A., Salmon R.-J., Thomas G.;
"Characterization of a frequent polymorphism in the coding sequence of
the Tp53 gene in colonic cancer patients and a control population.";
Hum. Genet. 86:369-370(1991).
[163]
VARIANT LFS THR-133.
PubMed=1933902;
Law J.C., Strong L.C., Chidambaram A., Ferrell R.E.;
"A germ line mutation in exon 5 of the p53 gene in an extended cancer
family.";
Cancer Res. 51:6385-6387(1991).
[164]
VARIANTS LFS CYS-245; TRP-248; PRO-252 AND LYS-258.
PubMed=1978757; DOI=10.1126/science.1978757;
Malkin D., Li F.P., Strong L.C., Fraumeni J.F. Jr., Nelson C.E.,
Kim D.H., Kassel J., Gryka M.A., Bischoff F.Z., Tainsky M.A.,
Friend S.H.;
"Germ line p53 mutations in a familial syndrome of breast cancer,
sarcomas, and other neoplasms.";
Science 250:1233-1238(1990).
[165]
VARIANT LFS ASP-245.
PubMed=2259385; DOI=10.1038/348747a0;
Srivastava S., Zou Z., Pirollo K., Blattner W., Chang E.H.;
"Germ-line transmission of a mutated p53 gene in a cancer-prone family
with Li-Fraumeni syndrome.";
Nature 348:747-749(1990).
[166]
VARIANT LFS LEU-272.
PubMed=1737852; DOI=10.1172/JCI115630;
Felix C.A., Nau M.M., Takahashi T., Mitsudomi T., Chiba I.,
Poplack D.G., Reaman G.H., Cole D.E., Letterio J.J., Whang-Peng J.,
Knutsen T., Minna J.D.;
"Hereditary and acquired p53 gene mutations in childhood acute
lymphoblastic leukemia.";
J. Clin. Invest. 89:640-647(1992).
[167]
VARIANTS LFS HIS-273 AND VAL-325.
PubMed=1565144; DOI=10.1056/NEJM199205143262002;
Malkin D., Jolly K.W., Barbier N., Look A.T., Friend S.H.,
Gebhardt M.C., Andersen T.I., Boerresen A.-L., Li F.P., Garber J.,
Strong L.C.;
"Germline mutations of the p53 tumor-suppressor gene in children and
young adults with second malignant neoplasms.";
N. Engl. J. Med. 326:1309-1315(1992).
[168]
VARIANTS SPORADIC CANCERS GLN-132; SER-249; LYS-280 AND LYS-285.
PubMed=1694291;
Bartek J., Iggo R., Gannon J., Lane D.P.;
"Genetic and immunochemical analysis of mutant p53 in human breast
cancer cell lines.";
Oncogene 5:893-899(1990).
[169]
VARIANTS SPORADIC CANCERS PHE-241 AND HIS-273.
PubMed=1699228; DOI=10.1073/pnas.87.19.7555;
Rodrigues N.R., Rowan A., Smith M.E.F., Kerr I.B., Bodmer W.F.,
Gannon J.V., Lane D.P.;
"p53 mutations in colorectal cancer.";
Proc. Natl. Acad. Sci. U.S.A. 87:7555-7559(1990).
[170]
VARIANTS SPORADIC CANCER VAL-154; VAL-245; GLN-248; LEU-278 AND
SER-278.
PubMed=2263646; DOI=10.1073/pnas.87.24.9958;
Hollstein M.C., Metcalf R.A., Welsh J.A., Montesano R., Harris C.C.;
"Frequent mutation of the p53 gene in human esophageal cancer.";
Proc. Natl. Acad. Sci. U.S.A. 87:9958-9961(1990).
[171]
VARIANTS SPORADIC CANCERS.
PubMed=1647768; DOI=10.1016/0006-291X(91)90623-F;
Ishioka C., Sato T., Gamoh M., Suzuki T., Shibata H., Kanamaru R.,
Wakui A., Yamazaki T.;
"Mutations of the P53 gene, including an intronic point mutation, in
colorectal tumors.";
Biochem. Biophys. Res. Commun. 177:901-906(1991).
[172]
VARIANTS SPORADIC CANCERS LEU-152; ALA-155; HIS-175; PHE-176 AND
HIS-273.
PubMed=1868473;
Casson A.G., Mukhopadhyay T., Cleary K.R., Ro J.Y., Levin B.,
Roth J.A.;
"p53 gene mutations in Barrett's epithelium and esophageal cancer.";
Cancer Res. 51:4495-4499(1991).
[173]
VARIANTS SPORADIC CANCERS IN CHINA.
PubMed=1849234; DOI=10.1038/350427a0;
Hsu I.C., Metcalf R.A., Sun T., Welsh J.A., Wang N.J., Harris C.C.;
"Mutational hotspot in the p53 gene in human hepatocellular
carcinomas.";
Nature 350:427-428(1991).
[174]
VARIANTS SPORADIC CANCERS IN SOUTH AFRICA.
PubMed=1672732; DOI=10.1038/350429a0;
Bressac B., Kew M., Wands J., Ozturk M.;
"Selective G to T mutations of p53 gene in hepatocellular carcinoma
from southern Africa.";
Nature 350:429-431(1991).
[175]
VARIANTS SPORADIC CANCERS PHE-176; PHE-242; CYS-245; LEU-248 AND
HIS-273.
PubMed=1394225;
Somers K.D., Merrick M.A., Lopez M.E., Incognito L.S., Schechter G.L.,
Casey G.;
"Frequent p53 mutations in head and neck cancer.";
Cancer Res. 52:5997-6000(1992).
[176]
VARIANTS SPORADIC CANCERS.
PubMed=1327751;
Crook T., Vousden K.H.;
"Properties of p53 mutations detected in primary and secondary
cervical cancers suggest mechanisms of metastasis and involvement of
environmental carcinogens.";
EMBO J. 11:3935-3940(1992).
[177]
VARIANTS SPORADIC CANCERS CYS-205; GLU-281 AND LYS-285.
PubMed=1459726; DOI=10.1002/ijc.2910520606;
Sakai E., Rikimaru K., Ueda M., Matsumoto Y., Ishii N., Enomoto S.,
Yamamoto H., Tsuchida N.;
"The p53 tumor-suppressor gene and ras oncogene mutations in oral
squamous-cell carcinoma.";
Int. J. Cancer 52:867-872(1992).
[178]
VARIANT PRO-HIS-PRO-178 INS.
PubMed=1303181; DOI=10.1093/hmg/1.3.207;
Bhatia K., Guiterrez M.I., Magrath I.T.;
"A novel mutation in the p53 gene in a Burkitt's lymphoma cell line.";
Hum. Mol. Genet. 1:207-208(1992).
[179]
VARIANTS SPORADIC CANCERS.
PubMed=1437144;
Duthu A., Debuire B., Romano J.W., Ehrhart J.C., Fiscella M., May E.,
Appella E., May P.;
"p53 mutations in Raji cells: characterization and localization
relative to other Burkitt's lymphomas.";
Oncogene 7:2161-2167(1992).
[180]
VARIANT SPORADIC CANCER THR-280.
PubMed=1631151; DOI=10.1073/pnas.89.14.6516;
Sun Y., Hegamyer G., Heng Y.-J., Hildesheim A., Chen J.-Y.,
Chen I.-H., Cao Y., Yao K.-T., Colburn N.H.;
"An infrequent point mutation of the p53 gene in human nasopharyngeal
carcinoma.";
Proc. Natl. Acad. Sci. U.S.A. 89:6516-6520(1992).
[181]
VARIANTS SPORADIC CANCERS SER-151; PRO-156; LYS-174; ARG-194; CYS-220;
GLN-248; LEU-248 AND HIS-273.
PubMed=7682763;
Caamano J., Zhang S.Y., Rosvold E.A., Bauer B., Klein-Szanto A.J.P.;
"p53 alterations in human squamous cell carcinomas and carcinoma cell
lines.";
Am. J. Pathol. 142:1131-1139(1993).
[182]
VARIANTS SPORADIC CANCERS.
PubMed=8402617;
Boyle J.O., Hakim J., Koch W., van der Riet P., Hruban R.H., Roa R.A.,
Correo R., Eby Y.J., Ruppert J.M., Sidransky D.;
"The incidence of p53 mutations increases with progression of head and
neck cancer.";
Cancer Res. 53:4477-4480(1993).
[183]
VARIANTS SPORADIC CANCERS.
PubMed=8336944;
Hamelin R., Jego N., Laurent-Puig P., Vidaud M., Thomas G.;
"Efficient screening of p53 mutations by denaturing gradient gel
electrophoresis in colorectal tumors.";
Oncogene 8:2213-2220(1993).
[184]
VARIANTS, AND INVOLVEMENT IN LFL.
PubMed=8118819;
Birch J.M., Hartley A.L., Tricker K.J., Prosser J., Condie A.,
Kelsey A.M., Harris M., Jones P.H., Binchy A., Crowther D.,
Craft A.W., Eden O.B., Evans D.G.R., Thompson E., Mann J.R.,
Martin J., Mitchell E.L.D., Santibanez-Koref M.F.;
"Prevalence and diversity of constitutional mutations in the p53 gene
among 21 Li-Fraumeni families.";
Cancer Res. 54:1298-1304(1994).
[185]
CHARACTERIZATION OF VARIANT ALA-143.
PubMed=8013454;
Zhang W., Guo X.-Y., Hu G.-Y., Liu W.-B., Shay J.W., Deisseroth A.B.;
"A temperature-sensitive mutant of human p53.";
EMBO J. 13:2535-2544(1994).
[186]
VARIANTS LFS HIS-175; ARG-193; GLN-248; CYS-273 AND TYR-275.
PubMed=7887414;
Frebourg T., Barbier N., Yan Y.-X., Garber J.E., Dreyfus M.,
Fraumeni J.F. Jr., Li F.P., Friend S.H.;
"Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.";
Am. J. Hum. Genet. 56:608-615(1995).
[187]
VARIANTS, AND INVOLVEMENT IN LFL.
PubMed=8718514;
Eeles R.A.;
"Germline mutations in the TP53 gene.";
Cancer Surv. 25:101-124(1995).
[188]
VARIANT LFS HIS-175.
PubMed=8825920; DOI=10.1136/jmg.32.12.942;
Varley J.M., McGrown G., Thorncroft M., Tricker K.J., Teare M.D.,
Santibanez-Koref M.F., Houlston R.S., Martin J., Birch J.M.,
Evans D.G.R.;
"An extended Li-Fraumeni kindred with gastric carcinoma and a codon
175 mutation in TP53.";
J. Med. Genet. 32:942-945(1995).
[189]
VARIANTS SPORADIC CANCERS PHE-176; SER-245; TRP-248; TRP-282 AND
GLN-286.
PubMed=8829627;
DOI=10.1002/(SICI)1098-1004(1996)7:2<109::AID-HUMU4>3.3.CO;2-0;
Audrezet M.-P., Robaszkiewicz M., Mercier B., Nousbaum J.-B.,
Hardy E., Bail J.-P., Volant A., Lozac'H P., Gouerou H., Ferec C.;
"Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.";
Hum. Mutat. 7:109-113(1996).
[190]
VARIANTS SPORADIC CANCERS.
PubMed=9101296;
DOI=10.1002/(SICI)1098-1004(1997)9:4<348::AID-HUMU8>3.0.CO;2-1;
Guldberg P., Nedergaard T., Nielsen H.J., Olsen A.C., Ahrenkiel V.,
Zeuthen J.;
"Single-step DGGE-based mutation scanning of the p53 gene: application
to genetic diagnosis of colorectal cancer.";
Hum. Mutat. 9:348-355(1997).
[191]
VARIANT SPORADIC CANCER ILE-157.
PubMed=9419979; DOI=10.1038/sj.onc.1201668;
Miyaki M., Nishio J., Konishi M., Kikuchi-Yanoshita R., Tanaka K.,
Muraoka M., Nagato M., Chong J.-M., Koike M., Terada T., Kawahara Y.,
Fukutome A., Tomiyama J., Chuganji Y., Momoi M., Utsunomiya J.;
"Drastic genetic instability of tumors and normal tissues in Turcot
syndrome.";
Oncogene 15:2877-2881(1997).
[192]
VARIANTS SER-152; ILE-169; PHE-176; THR-195; CYS-220; ILE-230; CYS-273
AND SER-278.
PubMed=9450901;
DOI=10.1002/(SICI)1098-1004(1998)11:1<39::AID-HUMU6>3.0.CO;2-G;
van Rensburg E.J., Engelbrecht S., van Heerden W.F.P., Kotze M.J.,
Raubenheimer E.J.;
"Detection of p53 gene mutations in oral squamous cell carcinomas of a
black African population sample.";
Hum. Mutat. 11:39-44(1998).
[193]
VARIANT NON-CLASSICAL LFS CYS-337.
PubMed=9452042;
Luca J.W., Strong L.C., Hansen M.F.;
"A germline missense mutation R337C in exon 10 of the human p53
gene.";
Hum. Mutat. Suppl. 1:S58-S61(1998).
[194]
VARIANT LFS ILE-292.
PubMed=10484981; DOI=10.1016/S0165-4608(98)00276-3;
Gueran S., Tunca Y., Imirzalioglu N.;
"Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in
a Li-Fraumeni syndrome family.";
Cancer Genet. Cytogenet. 113:145-151(1999).
[195]
VARIANTS.
PubMed=10549356;
Hainaut P., Hollstein M.;
"p53 and human cancer: the first ten thousand mutations.";
Adv. Cancer Res. 77:81-137(2000).
[196]
VARIANT ADCC HIS-337.
PubMed=11481490; DOI=10.1073/pnas.161479898;
Ribeiro R.C., Sandrini F., Figueiredo B., Zambetti G.P.,
Michalkiewicz E., Lafferty A.R., DeLacerda L., Rabin M., Cadwell C.,
Sampaio G., Cat I., Stratakis C.A., Sandrini R.;
"An inherited p53 mutation that contributes in a tissue-specific
manner to pediatric adrenal cortical carcinoma.";
Proc. Natl. Acad. Sci. U.S.A. 98:9330-9335(2001).
[197]
INVOLVEMENT IN CPP.
PubMed=12085209; DOI=10.1038/sj.bjc.6600269;
Rutherford J., Chu C.E., Duddy P.M., Charlton R.S., Chumas P.,
Taylor G.R., Lu X., Barnes D.M., Camplejohn R.S.;
"Investigations on a clinically and functionally unusual and novel
germline p53 mutation.";
Br. J. Cancer 86:1592-1596(2002).
[198]
VARIANTS [LARGE SCALE ANALYSIS] LEU-134; PHE-157; CYS-163; HIS-175;
ARG-177; ARG-193; PRO-213; PHE-241; PHE-242; GLN-248; TRP-248;
SER-249; TRP-267; LYS-271; CYS-273; HIS-273; LEU-273; SER-278; ILE-280
AND HIS-281.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
[199]
VARIANTS PRO-110; VAL-113; VAL-138; CYS-163; HIS-163; THR-195;
MET-216; ALA-241; MET-249; SER-251; TYR-259 AND CYS-273.
PubMed=17224074; DOI=10.1186/bcr1637;
Chanock S.J., Burdett L., Yeager M., Llaca V., Langeroed A.,
Presswalla S., Kaaresen R., Strausberg R.L., Gerhard D.S.,
Kristensen V., Perou C.M., Boerresen-Dale A.-L.;
"Somatic sequence alterations in twenty-one genes selected by
expression profile analysis of breast carcinomas.";
Breast Cancer Res. 9:R5-R5(2007).
[200]
VARIANTS.
PubMed=17311302; DOI=10.1002/humu.20495;
Petitjean A., Mathe E., Kato S., Ishioka C., Tavtigian S.V.,
Hainaut P., Olivier M.;
"Impact of mutant p53 functional properties on TP53 mutation patterns
and tumor phenotype: lessons from recent developments in the IARC TP53
database.";
Hum. Mutat. 28:622-629(2007).
[201]
CHARACTERIZATION OF VARIANT SPORADIC CANCER LYS-280, UBIQUITINATION,
PROTEASOMAL DEGRADATION, AND INTERACTION WITH CCAR2.
PubMed=25732823; DOI=10.1016/j.celrep.2015.01.066;
Qin B., Minter-Dykhouse K., Yu J., Zhang J., Liu T., Zhang H., Lee S.,
Kim J., Wang L., Lou Z.;
"DBC1 functions as a tumor suppressor by regulating p53 stability.";
Cell Rep. 10:1324-1334(2015).
-!- FUNCTION: Acts as a tumor suppressor in many tumor types; induces
growth arrest or apoptosis depending on the physiological
circumstances and cell type. Involved in cell cycle regulation as
a trans-activator that acts to negatively regulate cell division
by controlling a set of genes required for this process. One of
the activated genes is an inhibitor of cyclin-dependent kinases.
Apoptosis induction seems to be mediated either by stimulation of
BAX and FAS antigen expression, or by repression of Bcl-2
expression. In cooperation with mitochondrial PPIF is involved in
activating oxidative stress-induced necrosis; the function is
largely independent of transcription. Induces the transcription of
long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-
Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional
repression leading to apoptosis and seem to have to effect on
cell-cycle regulation. Implicated in Notch signaling cross-over.
Prevents CDK7 kinase activity when associated to CAK complex in
response to DNA damage, thus stopping cell cycle progression.
Isoform 2 enhances the transactivation activity of isoform 1 from
some but not all TP53-inducible promoters. Isoform 4 suppresses
transactivation activity and impairs growth suppression mediated
by isoform 1. Isoform 7 inhibits isoform 1-mediated apoptosis.
Regulates the circadian clock by repressing CLOCK-ARNTL/BMAL1-
mediated transcriptional activation of PER2 (PubMed:24051492).
{ECO:0000269|PubMed:11025664, ECO:0000269|PubMed:12810724,
ECO:0000269|PubMed:15186775, ECO:0000269|PubMed:15340061,
ECO:0000269|PubMed:17317671, ECO:0000269|PubMed:17349958,
ECO:0000269|PubMed:19556538, ECO:0000269|PubMed:20673990,
ECO:0000269|PubMed:20959462, ECO:0000269|PubMed:22726440,
ECO:0000269|PubMed:24051492, ECO:0000269|PubMed:9840937}.
-!- COFACTOR:
Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
Note=Binds 1 zinc ion per subunit.;
-!- SUBUNIT: Interacts with AXIN1. Probably part of a complex
consisting of TP53, HIPK2 and AXIN1 (By similarity). Binds DNA as
a homotetramer. Interacts with histone acetyltransferases EP300
and methyltransferases HRMT1L2 and CARM1, and recruits them to
promoters. In vitro, the interaction of TP53 with cancer-
associated/HPV (E6) viral proteins leads to ubiquitination and
degradation of TP53 giving a possible model for cell growth
regulation. This complex formation requires an additional factor,
E6-AP, which stably associates with TP53 in the presence of E6.
Interacts (via C-terminus) with TAF1; when TAF1 is part of the
TFIID complex. Interacts with ING4; this interaction may be
indirect. Found in a complex with CABLES1 and TP73. Interacts with
HIPK1, HIPK2, and TP53INP1. Interacts with WWOX. May interact with
HCV core protein. Interacts with USP7 and SYVN1. Interacts with
HSP90AB1. Interacts with CHD8; leading to recruit histone H1 and
prevent transactivation activity (By similarity). Interacts with
ARMC10, BANP, CDKN2AIP, NUAK1, STK11/LKB1, UHRF2 and E4F1.
Interacts with YWHAZ; the interaction enhances TP53
transcriptional activity. Phosphorylation of YWHAZ on 'Ser-58'
inhibits this interaction. Interacts (via DNA-binding domain) with
MAML1 (via N-terminus). Interacts with MKRN1. Interacts with PML
(via C-terminus). Interacts with MDM2; leading to ubiquitination
and proteasomal degradation of TP53. Directly interacts with
FBXO42; leading to ubiquitination and degradation of TP53.
Interacts (phosphorylated at Ser-15 by ATM) with the phosphatase
PP2A-PPP2R5C holoenzyme; regulates stress-induced TP53-dependent
inhibition of cell proliferation. Interacts with PPP2R2A.
Interacts with AURKA, DAXX, BRD7 and TRIM24. Interacts (when
monomethylated at Lys-382) with L3MBTL1. Isoform 1 interacts with
isoform 2 and with isoform 4. Interacts with GRK5. Binds to the
CAK complex (CDK7, cyclin H and MAT1) in response to DNA damage.
Interacts with CDK5 in neurons. Interacts with AURKB, SETD2, UHRF2
and NOC2L. Interacts (via N-terminus) with PTK2/FAK1; this
promotes ubiquitination by MDM2. Interacts with PTK2B/PYK2; this
promotes ubiquitination by MDM2. Interacts with PRKCG. Interacts
with PPIF; the association implicates preferentially tetrameric
TP53, is induced by oxidative stress and is impaired by
cyclosporin A (CsA). Interacts with human cytomegalovirus/HHV-5
protein UL123. Interacts with SNAI1; the interaction induces SNAI1
degradation via MDM2-mediated ubiquitination and inhibits SNAI1-
induced cell invasion. Interacts with KAT6A. Interacts with UBC9.
Interacts with ZNF385B; the interaction is direct. Interacts (via
DNA-binding domain) with ZNF385A; the interaction is direct and
enhances p53/TP53 transactivation functions on cell-cycle arrest
target genes, resulting in growth arrest. Interacts with ANKRD2.
Interacts with RFFL and RNF34; involved in p53/TP53
ubiquitination. Interacts with MTA1 and RFWD2. Interacts with
CCAR2 (via N-terminus). Interacts (via N-terminus) with human
adenovirus 5 E1B-55K protein; this interaction leads to the
inhibition of TP53 function and/or its degradation
(PubMed:25772236). Interacts with MORC3 (PubMed:17332504).
Interacts (via C-terminus) with POU4F2 isoform 1 (via C-terminus)
(PubMed:17145718). Interacts (via oligomerization region) with
NOP53; the interaction is direct and may prevent the MDM2-mediated
proteasomal degradation of TP53 (PubMed:22522597). Interacts with
AFG1L; mediates mitochondrial translocation of TP53
(PubMed:27323408). Interacts with UBD (PubMed:25422469).
{ECO:0000250, ECO:0000269|PubMed:12750254,
ECO:0000269|PubMed:12810724, ECO:0000269|PubMed:12851404,
ECO:0000269|PubMed:14534297, ECO:0000269|PubMed:14702041,
ECO:0000269|PubMed:15053879, ECO:0000269|PubMed:15109303,
ECO:0000269|PubMed:15136035, ECO:0000269|PubMed:15186775,
ECO:0000269|PubMed:15701641, ECO:0000269|PubMed:15855171,
ECO:0000269|PubMed:16219768, ECO:0000269|PubMed:16322561,
ECO:0000269|PubMed:16376338, ECO:0000269|PubMed:16377624,
ECO:0000269|PubMed:16402859, ECO:0000269|PubMed:16474402,
ECO:0000269|PubMed:16793544, ECO:0000269|PubMed:16845383,
ECO:0000269|PubMed:17015838, ECO:0000269|PubMed:17108107,
ECO:0000269|PubMed:17121812, ECO:0000269|PubMed:17145718,
ECO:0000269|PubMed:17170702, ECO:0000269|PubMed:17245430,
ECO:0000269|PubMed:17317671, ECO:0000269|PubMed:17332504,
ECO:0000269|PubMed:17591690, ECO:0000269|PubMed:17719541,
ECO:0000269|PubMed:17904127, ECO:0000269|PubMed:17967874,
ECO:0000269|PubMed:18585004, ECO:0000269|PubMed:18650397,
ECO:0000269|PubMed:18996393, ECO:0000269|PubMed:19509332,
ECO:0000269|PubMed:19515728, ECO:0000269|PubMed:19536131,
ECO:0000269|PubMed:19556538, ECO:0000269|PubMed:19776115,
ECO:0000269|PubMed:19837670, ECO:0000269|PubMed:19880522,
ECO:0000269|PubMed:20124405, ECO:0000269|PubMed:20142040,
ECO:0000269|PubMed:20228809, ECO:0000269|PubMed:20364130,
ECO:0000269|PubMed:20385133, ECO:0000269|PubMed:20660729,
ECO:0000269|PubMed:20870725, ECO:0000269|PubMed:20959462,
ECO:0000269|PubMed:21317932, ECO:0000269|PubMed:21952639,
ECO:0000269|PubMed:22214662, ECO:0000269|PubMed:22522597,
ECO:0000269|PubMed:22726440, ECO:0000269|PubMed:22945289,
ECO:0000269|PubMed:23431171, ECO:0000269|PubMed:25422469,
ECO:0000269|PubMed:25732823, ECO:0000269|PubMed:25772236,
ECO:0000269|PubMed:27323408, ECO:0000269|PubMed:8875926,
ECO:0000269|PubMed:8875929, ECO:0000269|PubMed:9840937}.
-!- INTERACTION:
Self; NbExp=24; IntAct=EBI-366083, EBI-366083;
P03070:- (xeno); NbExp=19; IntAct=EBI-366083, EBI-617698;
P26663:- (xeno); NbExp=9; IntAct=EBI-366083, EBI-6838571;
Q7L7W2:-; NbExp=2; IntAct=EBI-366083, EBI-7210801;
Q8QW27:- (xeno); NbExp=2; IntAct=EBI-366083, EBI-6863726;
Q13155:AIMP2; NbExp=6; IntAct=EBI-366083, EBI-745226;
O95376:ARIH2; NbExp=5; IntAct=EBI-366083, EBI-711158;
P49407:ARRB1; NbExp=5; IntAct=EBI-366083, EBI-743313;
P29066:Arrb1 (xeno); NbExp=3; IntAct=EBI-366083, EBI-4303019;
Q9UBL3:ASH2L; NbExp=7; IntAct=EBI-366083, EBI-540797;
O95352-2:ATG7; NbExp=4; IntAct=EBI-366083, EBI-15980880;
O15169:AXIN1; NbExp=4; IntAct=EBI-366083, EBI-710484;
Q8N9N5:BANP; NbExp=3; IntAct=EBI-366083, EBI-744695;
P10415:BCL2; NbExp=5; IntAct=EBI-366083, EBI-77694;
Q07817-1:BCL2L1; NbExp=26; IntAct=EBI-366083, EBI-287195;
P11274:BCR; NbExp=2; IntAct=EBI-366083, EBI-712838;
O14503:BHLHE40; NbExp=11; IntAct=EBI-366083, EBI-711810;
P51587:BRCA2; NbExp=7; IntAct=EBI-366083, EBI-79792;
Q9NPI1:BRD7; NbExp=9; IntAct=EBI-366083, EBI-711221;
Q9BX70:BTBD2; NbExp=2; IntAct=EBI-366083, EBI-710091;
Q9Y297:BTRC; NbExp=2; IntAct=EBI-366083, EBI-307461;
Q9ESJ1:Cables1 (xeno); NbExp=3; IntAct=EBI-366083, EBI-604411;
Q9BWC9:CCDC106; NbExp=3; IntAct=EBI-366083, EBI-711501;
P38936:CDKN1A; NbExp=3; IntAct=EBI-366083, EBI-375077;
P17676:CEBPB; NbExp=4; IntAct=EBI-366083, EBI-969696;
Q92793:CREBBP; NbExp=11; IntAct=EBI-366083, EBI-81215;
P45481:Crebbp (xeno); NbExp=9; IntAct=EBI-366083, EBI-296306;
P55060:CSE1L; NbExp=5; IntAct=EBI-366083, EBI-286709;
P68400:CSNK2A1; NbExp=2; IntAct=EBI-366083, EBI-347804;
Q14999:CUL7; NbExp=5; IntAct=EBI-366083, EBI-308606;
Q8IWT3:CUL9; NbExp=4; IntAct=EBI-366083, EBI-311123;
Q9P0U4:CXXC1; NbExp=7; IntAct=EBI-366083, EBI-949911;
Q9UER7:DAXX; NbExp=12; IntAct=EBI-366083, EBI-77321;
Q92841:DDX17; NbExp=3; IntAct=EBI-366083, EBI-746012;
P17844:DDX5; NbExp=6; IntAct=EBI-366083, EBI-351962;
Q9NRR4:DROSHA; NbExp=5; IntAct=EBI-366083, EBI-528367;
Q9BV47:DUSP26; NbExp=9; IntAct=EBI-366083, EBI-2924519;
O14641:DVL2; NbExp=4; IntAct=EBI-366083, EBI-740850;
P03126:E6 (xeno); NbExp=5; IntAct=EBI-366083, EBI-1177242;
P06463:E6 (xeno); NbExp=3; IntAct=EBI-366083, EBI-1186926;
Q09472:EP300; NbExp=20; IntAct=EBI-366083, EBI-447295;
P15036:ETS2; NbExp=4; IntAct=EBI-366083, EBI-1646991;
Q86XK2:FBXO11; NbExp=4; IntAct=EBI-366083, EBI-1047804;
O43524:FOXO3; NbExp=2; IntAct=EBI-366083, EBI-1644164;
P49841:GSK3B; NbExp=3; IntAct=EBI-366083, EBI-373586;
P32780:GTF2H1; NbExp=5; IntAct=EBI-366083, EBI-715539;
Q13547:HDAC1; NbExp=7; IntAct=EBI-366083, EBI-301834;
Q86Z02:HIPK1; NbExp=2; IntAct=EBI-366083, EBI-692891;
P09429:HMGB1; NbExp=9; IntAct=EBI-366083, EBI-389432;
P61978:HNRNPK; NbExp=2; IntAct=EBI-366083, EBI-304185;
P61978-2:HNRNPK; NbExp=2; IntAct=EBI-366083, EBI-7060731;
P02829:HSP82 (xeno); NbExp=8; IntAct=EBI-366083, EBI-8659;
P34931:HSPA1L; NbExp=2; IntAct=EBI-366083, EBI-354912;
P38646:HSPA9; NbExp=6; IntAct=EBI-366083, EBI-354932;
P04792:HSPB1; NbExp=3; IntAct=EBI-366083, EBI-352682;
P42858:HTT; NbExp=4; IntAct=EBI-366083, EBI-466029;
Q7Z6Z7:HUWE1; NbExp=3; IntAct=EBI-366083, EBI-625934;
Q16666-2:IFI16; NbExp=6; IntAct=EBI-366083, EBI-6273540;
Q08619:Ifi205b (xeno); NbExp=2; IntAct=EBI-366083, EBI-8064290;
O14920:IKBKB; NbExp=2; IntAct=EBI-366083, EBI-81266;
Q9UHH9:IP6K2; NbExp=4; IntAct=EBI-366083, EBI-747509;
Q6NYC1:JMJD6; NbExp=7; IntAct=EBI-366083, EBI-8464037;
Q92993:KAT5; NbExp=3; IntAct=EBI-366083, EBI-399080;
Q9H7Z6:KAT8; NbExp=2; IntAct=EBI-366083, EBI-896414;
O60341-1:KDM1A; NbExp=6; IntAct=EBI-366083, EBI-15599570;
Q8IZD2:KMT2E; NbExp=4; IntAct=EBI-366083, EBI-2689959;
Q16363:LAMA4; NbExp=2; IntAct=EBI-366083, EBI-711505;
P43356:MAGEA2B; NbExp=7; IntAct=EBI-366083, EBI-5650739;
Q9UBF1:MAGEC2; NbExp=3; IntAct=EBI-366083, EBI-5651487;
P46821:MAP1B; NbExp=6; IntAct=EBI-366083, EBI-764611;
Q15759:MAPK11; NbExp=2; IntAct=EBI-366083, EBI-298304;
Q8IW41:MAPKAPK5; NbExp=2; IntAct=EBI-366083, EBI-1201460;
Q00987:MDM2; NbExp=91; IntAct=EBI-366083, EBI-389668;
O15151:MDM4; NbExp=19; IntAct=EBI-366083, EBI-398437;
Q9UHC7:MKRN1; NbExp=8; IntAct=EBI-366083, EBI-373524;
O75970:MPDZ; NbExp=3; IntAct=EBI-366083, EBI-821405;
P04731:MT1A; NbExp=3; IntAct=EBI-366083, EBI-8045030;
P19338:NCL; NbExp=2; IntAct=EBI-366083, EBI-346967;
Q9Y618:NCOR2; NbExp=7; IntAct=EBI-366083, EBI-80830;
P23511:NFYA; NbExp=11; IntAct=EBI-366083, EBI-389739;
P25208:NFYB; NbExp=6; IntAct=EBI-366083, EBI-389728;
Q9Y3T9:NOC2L; NbExp=8; IntAct=EBI-366083, EBI-751547;
O60936:NOL3; NbExp=3; IntAct=EBI-366083, EBI-740992;
P06748:NPM1; NbExp=6; IntAct=EBI-366083, EBI-78579;
P06748-1:NPM1; NbExp=3; IntAct=EBI-366083, EBI-354150;
Q15466:NR0B2; NbExp=3; IntAct=EBI-366083, EBI-3910729;
P22736:NR4A1; NbExp=6; IntAct=EBI-366083, EBI-721550;
O43847:NRDC; NbExp=6; IntAct=EBI-366083, EBI-2371631;
P89055:NSP1 (xeno); NbExp=6; IntAct=EBI-366083, EBI-9522973;
O60285:NUAK1; NbExp=5; IntAct=EBI-366083, EBI-1046789;
P49757:NUMB; NbExp=5; IntAct=EBI-366083, EBI-915016;
Q96FW1:OTUB1; NbExp=8; IntAct=EBI-366083, EBI-1058491;
Q8TEW0:PARD3; NbExp=3; IntAct=EBI-366083, EBI-81968;
P09874:PARP1; NbExp=3; IntAct=EBI-366083, EBI-355676;
Q96KB5:PBK; NbExp=7; IntAct=EBI-366083, EBI-536853;
P35232:PHB; NbExp=6; IntAct=EBI-366083, EBI-354213;
O75925:PIAS1; NbExp=4; IntAct=EBI-366083, EBI-629434;
O75928:PIAS2; NbExp=2; IntAct=EBI-366083, EBI-348555;
Q8N2W9:PIAS4; NbExp=2; IntAct=EBI-366083, EBI-473160;
Q13526:PIN1; NbExp=12; IntAct=EBI-366083, EBI-714158;
P53350:PLK1; NbExp=6; IntAct=EBI-366083, EBI-476768;
P29590:PML; NbExp=4; IntAct=EBI-366083, EBI-295890;
P30405:PPIF; NbExp=4; IntAct=EBI-366083, EBI-5544229;
P36873-1:PPP1CC; NbExp=2; IntAct=EBI-366083, EBI-356289;
Q8WUF5:PPP1R13L; NbExp=12; IntAct=EBI-366083, EBI-5550163;
P30153:PPP2R1A; NbExp=3; IntAct=EBI-366083, EBI-302388;
Q13362:PPP2R5C; NbExp=4; IntAct=EBI-366083, EBI-1266156;
Q05655:PRKCD; NbExp=4; IntAct=EBI-366083, EBI-704279;
P61289:PSME3; NbExp=7; IntAct=EBI-366083, EBI-355546;
Q05397:PTK2; NbExp=13; IntAct=EBI-366083, EBI-702142;
Q06609:RAD51; NbExp=2; IntAct=EBI-366083, EBI-297202;
Q06330:RBPJ; NbExp=5; IntAct=EBI-366083, EBI-632552;
Q96PM5:RCHY1; NbExp=11; IntAct=EBI-366083, EBI-947779;
Q6PCD5:RFWD3; NbExp=5; IntAct=EBI-366083, EBI-2129159;
P23396:RPS3; NbExp=4; IntAct=EBI-366083, EBI-351193;
Q8N488:RYBP; NbExp=3; IntAct=EBI-366083, EBI-752324;
P23297:S100A1; NbExp=2; IntAct=EBI-366083, EBI-743686;
P29034:S100A2; NbExp=2; IntAct=EBI-366083, EBI-752230;
P26447:S100A4; NbExp=7; IntAct=EBI-366083, EBI-717058;
P04271:S100B; NbExp=2; IntAct=EBI-366083, EBI-458391;
Q15424:SAFB; NbExp=5; IntAct=EBI-366083, EBI-348298;
Q8WTS6:SETD7; NbExp=11; IntAct=EBI-366083, EBI-1268586;
P31947:SFN; NbExp=4; IntAct=EBI-366083, EBI-476295;
Q96ST3:SIN3A; NbExp=2; IntAct=EBI-366083, EBI-347218;
Q96EB6:SIRT1; NbExp=18; IntAct=EBI-366083, EBI-1802965;
Q923E4:Sirt1 (xeno); NbExp=4; IntAct=EBI-366083, EBI-1802585;
Q15796:SMAD2; NbExp=7; IntAct=EBI-366083, EBI-1040141;
Q9NRG4:SMYD2; NbExp=6; IntAct=EBI-366083, EBI-1055671;
Q8R5A0:Smyd2 (xeno); NbExp=3; IntAct=EBI-366083, EBI-15612527;
O95863:SNAI1; NbExp=2; IntAct=EBI-366083, EBI-1045459;
Q06945:SOX4; NbExp=4; IntAct=EBI-366083, EBI-6672525;
P08047:SP1; NbExp=3; IntAct=EBI-366083, EBI-298336;
Q12772:SREBF2; NbExp=3; IntAct=EBI-366083, EBI-465059;
Q96SB4:SRPK1; NbExp=3; IntAct=EBI-366083, EBI-539478;
P63165:SUMO1; NbExp=3; IntAct=EBI-366083, EBI-80140;
Q86TM6:SYVN1; NbExp=5; IntAct=EBI-366083, EBI-947849;
P20226:TBP; NbExp=2; IntAct=EBI-366083, EBI-355371;
P15884:TCF4; NbExp=2; IntAct=EBI-366083, EBI-533224;
Q96GM8:TOE1; NbExp=3; IntAct=EBI-366083, EBI-717460;
Q12888:TP53BP1; NbExp=6; IntAct=EBI-366083, EBI-396540;
Q12888-1:TP53BP1; NbExp=17; IntAct=EBI-366083, EBI-8022649;
Q13625:TP53BP2; NbExp=7; IntAct=EBI-366083, EBI-77642;
Q9H3D4:TP63; NbExp=5; IntAct=EBI-366083, EBI-2337775;
O88898:Tp63 (xeno); NbExp=2; IntAct=EBI-366083, EBI-2338025;
P13693:TPT1; NbExp=7; IntAct=EBI-366083, EBI-1783169;
O15164:TRIM24; NbExp=3; IntAct=EBI-366083, EBI-2130378;
Q15672:TWIST1; NbExp=10; IntAct=EBI-366083, EBI-1797287;
P26687:Twist1 (xeno); NbExp=4; IntAct=EBI-366083, EBI-6123119;
P0CG48:UBC; NbExp=15; IntAct=EBI-366083, EBI-3390054;
Q05086:UBE3A; NbExp=6; IntAct=EBI-366083, EBI-954357;
Q96PU4:UHRF2; NbExp=3; IntAct=EBI-366083, EBI-625304;
Q9H9J4:USP42; NbExp=2; IntAct=EBI-366083, EBI-2513638;
Q9H9J4-2:USP42; NbExp=2; IntAct=EBI-366083, EBI-9118105;
Q93009:USP7; NbExp=18; IntAct=EBI-366083, EBI-302474;
P11473:VDR; NbExp=6; IntAct=EBI-366083, EBI-286357;
Q99986:VRK1; NbExp=9; IntAct=EBI-366083, EBI-1769146;
Q14191:WRN; NbExp=5; IntAct=EBI-366083, EBI-368417;
O14980:XPO1; NbExp=3; IntAct=EBI-366083, EBI-355867;
P12956:XRCC6; NbExp=2; IntAct=EBI-366083, EBI-353208;
P61981:YWHAG; NbExp=5; IntAct=EBI-366083, EBI-359832;
P63104:YWHAZ; NbExp=2; IntAct=EBI-366083, EBI-347088;
Q8TAQ5:ZNF420; NbExp=4; IntAct=EBI-366083, EBI-3923307;
Q9PST7:znf585b (xeno); NbExp=3; IntAct=EBI-366083, EBI-1782562;
-!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus, PML body.
Endoplasmic reticulum. Mitochondrion matrix. Note=Interaction with
BANP promotes nuclear localization. Recruited into PML bodies
together with CHEK2. Translocates to mitochondria upon oxidative
stress. Translocates to mitochondria in response to mitomycin C
treatment (PubMed:27323408). {ECO:0000269|PubMed:27323408}.
-!- SUBCELLULAR LOCATION: Isoform 1: Nucleus. Cytoplasm.
Note=Predominantly nuclear but localizes to the cytoplasm when
expressed with isoform 4.
-!- SUBCELLULAR LOCATION: Isoform 2: Nucleus. Cytoplasm.
Note=Localized mainly in the nucleus with minor staining in the
cytoplasm.
-!- SUBCELLULAR LOCATION: Isoform 3: Nucleus. Cytoplasm.
Note=Localized in the nucleus in most cells but found in the
cytoplasm in some cells.
-!- SUBCELLULAR LOCATION: Isoform 4: Nucleus. Cytoplasm.
Note=Predominantly nuclear but translocates to the cytoplasm
following cell stress.
-!- SUBCELLULAR LOCATION: Isoform 7: Nucleus. Cytoplasm.
Note=Localized mainly in the nucleus with minor staining in the
cytoplasm.
-!- SUBCELLULAR LOCATION: Isoform 8: Nucleus. Cytoplasm.
Note=Localized in both nucleus and cytoplasm in most cells. In
some cells, forms foci in the nucleus that are different from
nucleoli.
-!- SUBCELLULAR LOCATION: Isoform 9: Cytoplasm.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative promoter usage, Alternative splicing; Named isoforms=9;
Name=1; Synonyms=p53, p53alpha;
IsoId=P04637-1; Sequence=Displayed;
Name=2; Synonyms=I9RET, p53beta;
IsoId=P04637-2; Sequence=VSP_006535, VSP_006536;
Note=Expressed in quiescent lymphocytes. Seems to be
non-functional. May be produced at very low levels due to a
premature stop codon in the mRNA, leading to nonsense-mediated
mRNA decay.;
Name=3; Synonyms=p53gamma;
IsoId=P04637-3; Sequence=VSP_040560, VSP_040561;
Note=Expressed in quiescent lymphocytes. Seems to be
non-functional. May be produced at very low levels due to a
premature stop codon in the mRNA, leading to nonsense-mediated
mRNA decay.;
Name=4; Synonyms=Del40-p53, Del40-p53alpha, p47;
IsoId=P04637-4; Sequence=VSP_040832;
Name=5; Synonyms=Del40-p53beta;
IsoId=P04637-5; Sequence=VSP_040832, VSP_006535, VSP_006536;
Name=6; Synonyms=Del40-p53gamma;
IsoId=P04637-6; Sequence=VSP_040832, VSP_040560, VSP_040561;
Name=7; Synonyms=Del133-p53, Del133-p53alpha;
IsoId=P04637-7; Sequence=VSP_040833;
Note=Produced by alternative promoter usage.;
Name=8; Synonyms=Del133-p53beta;
IsoId=P04637-8; Sequence=VSP_040833, VSP_006535, VSP_006536;
Note=Produced by alternative promoter usage and alternative
splicing.;
Name=9; Synonyms=Del133-p53gamma;
IsoId=P04637-9; Sequence=VSP_040833, VSP_040560, VSP_040561;
Note=Produced by alternative promoter usage and alternative
splicing.;
-!- TISSUE SPECIFICITY: Ubiquitous. Isoforms are expressed in a wide
range of normal tissues but in a tissue-dependent manner. Isoform
2 is expressed in most normal tissues but is not detected in
brain, lung, prostate, muscle, fetal brain, spinal cord and fetal
liver. Isoform 3 is expressed in most normal tissues but is not
detected in lung, spleen, testis, fetal brain, spinal cord and
fetal liver. Isoform 7 is expressed in most normal tissues but is
not detected in prostate, uterus, skeletal muscle and breast.
Isoform 8 is detected only in colon, bone marrow, testis, fetal
brain and intestine. Isoform 9 is expressed in most normal tissues
but is not detected in brain, heart, lung, fetal liver, salivary
gland, breast or intestine. {ECO:0000269|PubMed:16131611}.
-!- INDUCTION: Up-regulated in response to DNA damage. Isoform 2 is
not induced in tumor cells in response to stress.
{ECO:0000269|PubMed:10570149, ECO:0000269|PubMed:16131611}.
-!- DOMAIN: The nuclear export signal acts as a transcriptional
repression domain. The TADI and TADII motifs (residues 17 to 25
and 48 to 56) correspond both to 9aaTAD motifs which are
transactivation domains present in a large number of yeast and
animal transcription factors. {ECO:0000269|PubMed:17467953}.
-!- PTM: Acetylated. Acetylation of Lys-382 by CREBBP enhances
transcriptional activity. Deacetylation of Lys-382 by SIRT1
impairs its ability to induce proapoptotic program and modulate
cell senescence. Deacetylation by SIRT2 impairs its ability to
induce transcription activation in a AKT-dependent manner.
{ECO:0000269|PubMed:10656795, ECO:0000269|PubMed:20228809,
ECO:0000269|PubMed:23431171}.
-!- PTM: Phosphorylation on Ser residues mediates transcriptional
activation. Phosphorylated by HIPK1 (By similarity).
Phosphorylation at Ser-9 by HIPK4 increases repression activity on
BIRC5 promoter. Phosphorylated on Thr-18 by VRK1. Phosphorylated
on Ser-20 by CHEK2 in response to DNA damage, which prevents
ubiquitination by MDM2. Phosphorylated on Ser-20 by PLK3 in
response to reactive oxygen species (ROS), promoting p53/TP53-
mediated apoptosis. Phosphorylated on Thr-55 by TAF1, which
promotes MDM2-mediated degradation. Phosphorylated on Ser-33 by
CDK7 in a CAK complex in response to DNA damage. Phosphorylated on
Ser-46 by HIPK2 upon UV irradiation. Phosphorylation on Ser-46 is
required for acetylation by CREBBP. Phosphorylated on Ser-392
following UV but not gamma irradiation. Phosphorylated on Ser-15
upon ultraviolet irradiation; which is enhanced by interaction
with BANP. Phosphorylated by NUAK1 at Ser-15 and Ser-392; was
initially thought to be mediated by STK11/LKB1 but it was later
shown that it is indirect and that STK11/LKB1-dependent
phosphorylation is probably mediated by downstream NUAK1
(PubMed:21317932). It is unclear whether AMP directly mediates
phosphorylation at Ser-15. Phosphorylated on Thr-18 by isoform 1
and isoform 2 of VRK2. Phosphorylation on Thr-18 by isoform 2 of
VRK2 results in a reduction in ubiquitination by MDM2 and an
increase in acetylation by EP300. Stabilized by CDK5-mediated
phosphorylation in response to genotoxic and oxidative stresses at
Ser-15, Ser-33 and Ser-46, leading to accumulation of p53/TP53,
particularly in the nucleus, thus inducing the transactivation of
p53/TP53 target genes. Phosphorylated by DYRK2 at Ser-46 in
response to genotoxic stress. Phosphorylated at Ser-315 and Ser-
392 by CDK2 in response to DNA-damage. {ECO:0000250,
ECO:0000269|PubMed:10570149, ECO:0000269|PubMed:10606744,
ECO:0000269|PubMed:10884347, ECO:0000269|PubMed:10951572,
ECO:0000269|PubMed:11239457, ECO:0000269|PubMed:11447225,
ECO:0000269|PubMed:11546806, ECO:0000269|PubMed:11551930,
ECO:0000269|PubMed:11554766, ECO:0000269|PubMed:11740489,
ECO:0000269|PubMed:11780126, ECO:0000269|PubMed:12810724,
ECO:0000269|PubMed:14702041, ECO:0000269|PubMed:15053879,
ECO:0000269|PubMed:15701641, ECO:0000269|PubMed:15866171,
ECO:0000269|PubMed:16377624, ECO:0000269|PubMed:16704422,
ECO:0000269|PubMed:1705009, ECO:0000269|PubMed:17108107,
ECO:0000269|PubMed:17254968, ECO:0000269|PubMed:17349958,
ECO:0000269|PubMed:17591690, ECO:0000269|PubMed:17967874,
ECO:0000269|PubMed:18022393, ECO:0000269|PubMed:20041275,
ECO:0000269|PubMed:20124405, ECO:0000269|PubMed:20959462,
ECO:0000269|PubMed:21317932, ECO:0000269|PubMed:2141171,
ECO:0000269|PubMed:22214662, ECO:0000269|PubMed:9372954}.
-!- PTM: Dephosphorylated by PP2A-PPP2R5C holoenzyme at Thr-55. SV40
small T antigen inhibits the dephosphorylation by the AC form of
PP2A.
-!- PTM: May be O-glycosylated in the C-terminal basic region. Studied
in EB-1 cell line. {ECO:0000269|PubMed:8632915}.
-!- PTM: Ubiquitinated by MDM2 and SYVN1, which leads to proteasomal
degradation (PubMed:10722742, PubMed:12810724, PubMed:15340061,
PubMed:17170702, PubMed:19880522). Ubiquitinated by RFWD3, which
works in cooperation with MDM2 and may catalyze the formation of
short polyubiquitin chains on p53/TP53 that are not targeted to
the proteasome (PubMed:10722742, PubMed:12810724,
PubMed:20173098). Ubiquitinated by MKRN1 at Lys-291 and Lys-292,
which leads to proteasomal degradation (PubMed:19536131).
Deubiquitinated by USP10, leading to its stabilization
(PubMed:20096447). Ubiquitinated by TRIM24, RFFL, RNF34 and
RNF125, which leads to proteasomal degradation (PubMed:19556538).
Ubiquitination by TOPORS induces degradation (PubMed:19473992).
Deubiquitination by USP7, leading to stabilization
(PubMed:15053880). Isoform 4 is monoubiquitinated in an MDM2-
independent manner (PubMed:15340061). Ubiquitinated by RFWD2,
which leads to proteasomal degradation (PubMed:19837670).
Ubiquitination and subsequent proteasomal degradation is
negatively regulated by CCAR2 (PubMed:25732823).
{ECO:0000269|PubMed:10722742, ECO:0000269|PubMed:12810724,
ECO:0000269|PubMed:15053880, ECO:0000269|PubMed:15340061,
ECO:0000269|PubMed:17170702, ECO:0000269|PubMed:18206965,
ECO:0000269|PubMed:19473992, ECO:0000269|PubMed:19536131,
ECO:0000269|PubMed:19556538, ECO:0000269|PubMed:19837670,
ECO:0000269|PubMed:19880522, ECO:0000269|PubMed:20096447,
ECO:0000269|PubMed:20173098, ECO:0000269|PubMed:25591766,
ECO:0000269|PubMed:25732823}.
-!- PTM: Monomethylated at Lys-372 by SETD7, leading to stabilization
and increased transcriptional activation. Monomethylated at Lys-
370 by SMYD2, leading to decreased DNA-binding activity and
subsequent transcriptional regulation activity. Lys-372
monomethylation prevents interaction with SMYD2 and subsequent
monomethylation at Lys-370. Dimethylated at Lys-373 by EHMT1 and
EHMT2. Monomethylated at Lys-382 by KMT5A, promoting interaction
with L3MBTL1 and leading to repress transcriptional activity.
Dimethylation at Lys-370 and Lys-382 diminishes p53
ubiquitination, through stabilizing association with the methyl
reader PHF20. Demethylation of dimethylated Lys-370 by KDM1A
prevents interaction with TP53BP1 and represses TP53-mediated
transcriptional activation.
-!- PTM: Sumoylated with SUMO1. Sumoylated at Lys-386 by UBC9.
{ECO:0000269|PubMed:11124955, ECO:0000269|PubMed:22214662,
ECO:0000269|Ref.35}.
-!- DISEASE: Note=TP53 is found in increased amounts in a wide variety
of transformed cells. TP53 is frequently mutated or inactivated in
about 60% of cancers. TP53 defects are found in Barrett metaplasia
a condition in which the normally stratified squamous epithelium
of the lower esophagus is replaced by a metaplastic columnar
epithelium. The condition develops as a complication in
approximately 10% of patients with chronic gastroesophageal reflux
disease and predisposes to the development of esophageal
adenocarcinoma.
-!- DISEASE: Esophageal cancer (ESCR) [MIM:133239]: A malignancy of
the esophagus. The most common types are esophageal squamous cell
carcinoma and adenocarcinoma. Cancer of the esophagus remains a
devastating disease because it is usually not detected until it
has progressed to an advanced incurable stage. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- DISEASE: Li-Fraumeni syndrome (LFS) [MIM:151623]: Autosomal
dominant familial cancer syndrome that in its classic form is
defined by the existence of a proband affected by a sarcoma before
45 years with a first degree relative affected by any tumor before
45 years and another first degree relative with any tumor before
45 years or a sarcoma at any age. Other clinical definitions for
LFS have been proposed (PubMed:8118819 and PubMed:8718514) and
called Li-Fraumeni like syndrome (LFL). In these families affected
relatives develop a diverse set of malignancies at unusually early
ages. Four types of cancers account for 80% of tumors occurring in
TP53 germline mutation carriers: breast cancers, soft tissue and
bone sarcomas, brain tumors (astrocytomas) and adrenocortical
carcinomas. Less frequent tumors include choroid plexus carcinoma
or papilloma before the age of 15, rhabdomyosarcoma before the age
of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal
and gastric cancers. {ECO:0000269|PubMed:10484981,
ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:1737852,
ECO:0000269|PubMed:1933902, ECO:0000269|PubMed:1978757,
ECO:0000269|PubMed:2259385, ECO:0000269|PubMed:7887414,
ECO:0000269|PubMed:8825920, ECO:0000269|PubMed:9452042}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Squamous cell carcinoma of the head and neck (HNSCC)
[MIM:275355]: A non-melanoma skin cancer affecting the head and
neck. The hallmark of cutaneous SCC is malignant transformation of
normal epidermal keratinocytes. Note=The gene represented in this
entry is involved in disease pathogenesis.
-!- DISEASE: Lung cancer (LNCR) [MIM:211980]: A common malignancy
affecting tissues of the lung. The most common form of lung cancer
is non-small cell lung cancer (NSCLC) that can be divided into 3
major histologic subtypes: squamous cell carcinoma,
adenocarcinoma, and large cell lung cancer. NSCLC is often
diagnosed at an advanced stage and has a poor prognosis. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Papilloma of choroid plexus (CPP) [MIM:260500]: A benign
tumor of neuroectodermal origin that generally occurs in
childhood, but has also been reported in adults. Although
generally found within the ventricular system, choroid plexus
papillomas can arise ectopically in the brain parenchyma or
disseminate throughout the neuraxis. Patients present with signs
and symptoms of increased intracranial pressure including
headache, hydrocephalus, papilledema, nausea, vomiting, cranial
nerve deficits, gait impairment, and seizures.
{ECO:0000269|PubMed:12085209}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Adrenocortical carcinoma (ADCC) [MIM:202300]: A malignant
neoplasm of the adrenal cortex and a rare childhood tumor. It
occurs with increased frequency in patients with Beckwith-
Wiedemann syndrome and Li-Fraumeni syndrome.
{ECO:0000269|PubMed:11481490}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Basal cell carcinoma 7 (BCC7) [MIM:614740]: A common
malignant skin neoplasm that typically appears on hair-bearing
skin, most commonly on sun-exposed areas. It is slow growing and
rarely metastasizes, but has potentialities for local invasion and
destruction. It usually develops as a flat, firm, pale area that
is small, raised, pink or red, translucent, shiny, and waxy, and
the area may bleed following minor injury. Tumor size can vary
from a few millimeters to several centimeters in diameter.
{ECO:0000269|PubMed:21946351}. Note=Disease susceptibility is
associated with variations affecting the gene represented in this
entry.
-!- SIMILARITY: Belongs to the p53 family. {ECO:0000305}.
-!- WEB RESOURCE: Name=IARC TP53 mutation database; Note=Somatic and
germline TP53 mutations in human cancers;
URL="http://p53.iarc.fr/";
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/P53ID88.html";
-!- WEB RESOURCE: Name=NIEHS-SNPs;
URL="http://egp.gs.washington.edu/data/tp53/";
-!- WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and
polymorphism database;
URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=TP53";
-!- WEB RESOURCE: Name=Wikipedia; Note=P53 entry;
URL="https://en.wikipedia.org/wiki/P53";
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; X02469; CAA26306.1; -; mRNA.
EMBL; M13121; AAA59987.1; -; Genomic_DNA.
EMBL; M13112; AAA59987.1; JOINED; Genomic_DNA.
EMBL; M13113; AAA59987.1; JOINED; Genomic_DNA.
EMBL; M13114; AAA59987.1; JOINED; Genomic_DNA.
EMBL; M13115; AAA59987.1; JOINED; Genomic_DNA.
EMBL; M13116; AAA59987.1; JOINED; Genomic_DNA.
EMBL; M13117; AAA59987.1; JOINED; Genomic_DNA.
EMBL; M13118; AAA59987.1; JOINED; Genomic_DNA.
EMBL; M13119; AAA59987.1; JOINED; Genomic_DNA.
EMBL; M13120; AAA59987.1; JOINED; Genomic_DNA.
EMBL; K03199; AAA59989.1; -; mRNA.
EMBL; M14694; AAA61211.1; -; mRNA.
EMBL; M14695; AAA61212.1; -; mRNA.
EMBL; M22898; AAA59988.1; -; Genomic_DNA.
EMBL; M22882; AAA59988.1; JOINED; Genomic_DNA.
EMBL; M22883; AAA59988.1; JOINED; Genomic_DNA.
EMBL; M22884; AAA59988.1; JOINED; Genomic_DNA.
EMBL; M22887; AAA59988.1; JOINED; Genomic_DNA.
EMBL; M22888; AAA59988.1; JOINED; Genomic_DNA.
EMBL; M22894; AAA59988.1; JOINED; Genomic_DNA.
EMBL; M22895; AAA59988.1; JOINED; Genomic_DNA.
EMBL; M22896; AAA59988.1; JOINED; Genomic_DNA.
EMBL; M22897; AAA59988.1; JOINED; Genomic_DNA.
EMBL; X01405; CAA25652.1; -; mRNA.
EMBL; X60011; CAA42626.1; -; mRNA.
EMBL; X60012; CAA42627.1; ALT_TERM; mRNA.
EMBL; X60013; CAA42628.1; -; mRNA.
EMBL; X60014; CAA42629.1; -; mRNA.
EMBL; X60015; CAA42630.1; -; mRNA.
EMBL; X60016; CAA42631.1; -; mRNA.
EMBL; X60017; CAA42632.1; -; mRNA.
EMBL; X60018; CAA42633.1; -; mRNA.
EMBL; X60019; CAA42634.1; -; mRNA.
EMBL; X60020; CAA42635.1; -; mRNA.
EMBL; AF307851; AAG28785.1; -; mRNA.
EMBL; DQ186648; ABA29753.1; -; mRNA.
EMBL; DQ186649; ABA29754.1; -; mRNA.
EMBL; DQ186650; ABA29755.1; -; mRNA.
EMBL; DQ186651; ABA29756.1; -; mRNA.
EMBL; DQ186652; ABA29757.1; -; mRNA.
EMBL; DQ191317; ABB80262.1; -; mRNA.
EMBL; DQ286964; ABB80266.1; -; mRNA.
EMBL; X54156; CAA38095.1; -; Genomic_DNA.
EMBL; U94788; AAC12971.1; -; Genomic_DNA.
EMBL; AY838896; AAV80424.1; -; Genomic_DNA.
EMBL; AF135121; AAD28535.1; -; Genomic_DNA.
EMBL; AF135120; AAD28535.1; JOINED; Genomic_DNA.
EMBL; AF136271; AAD28628.1; -; Genomic_DNA.
EMBL; AF136270; AAD28628.1; JOINED; Genomic_DNA.
EMBL; AB082923; BAC16799.1; -; mRNA.
EMBL; AK312568; BAG35463.1; -; mRNA.
EMBL; AC007421; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC087388; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471108; EAW90143.1; -; Genomic_DNA.
EMBL; CH471108; EAW90144.1; -; Genomic_DNA.
EMBL; BC003596; AAH03596.1; -; mRNA.
EMBL; AY429684; AAR10356.1; -; mRNA.
EMBL; AY390341; AAQ90158.1; -; Genomic_DNA.
EMBL; AY359814; AAR13239.1; -; Genomic_DNA.
EMBL; U63714; AAB39322.1; -; Genomic_DNA.
EMBL; AF209136; AAF36362.1; -; Genomic_DNA.
EMBL; AF209128; AAF36354.1; -; Genomic_DNA.
EMBL; AF209129; AAF36355.1; -; Genomic_DNA.
EMBL; AF209130; AAF36356.1; -; Genomic_DNA.
EMBL; AF209131; AAF36357.1; -; Genomic_DNA.
EMBL; AF209132; AAF36358.1; -; Genomic_DNA.
EMBL; AF209133; AAF36359.1; -; Genomic_DNA.
EMBL; AF209134; AAF36360.1; -; Genomic_DNA.
EMBL; AF209135; AAF36361.1; -; Genomic_DNA.
EMBL; AF209148; AAF36374.1; -; Genomic_DNA.
EMBL; AF209149; AAF36375.1; -; Genomic_DNA.
EMBL; AF209150; AAF36376.1; -; Genomic_DNA.
EMBL; AF209151; AAF36377.1; -; Genomic_DNA.
EMBL; AF209152; AAF36378.1; -; Genomic_DNA.
EMBL; AF209153; AAF36379.1; -; Genomic_DNA.
EMBL; AF209154; AAF36380.1; -; Genomic_DNA.
EMBL; AF209155; AAF36381.1; -; Genomic_DNA.
EMBL; AF209156; AAF36382.1; -; Genomic_DNA.
EMBL; AF210309; AAF63442.1; -; Genomic_DNA.
EMBL; AF210308; AAF63442.1; JOINED; Genomic_DNA.
EMBL; AF210310; AAF63443.1; -; Genomic_DNA.
EMBL; AF240684; AAK76358.1; -; Genomic_DNA.
EMBL; AF240685; AAK76359.1; -; Genomic_DNA.
EMBL; AY270155; AAP30003.1; -; Genomic_DNA.
CCDS; CCDS11118.1; -. [P04637-1]
CCDS; CCDS45605.1; -. [P04637-3]
CCDS; CCDS45606.1; -. [P04637-2]
CCDS; CCDS73966.1; -. [P04637-7]
CCDS; CCDS73967.1; -. [P04637-9]
CCDS; CCDS73968.1; -. [P04637-8]
CCDS; CCDS73969.1; -. [P04637-4]
CCDS; CCDS73970.1; -. [P04637-6]
CCDS; CCDS73971.1; -. [P04637-5]
PIR; A25224; DNHU53.
RefSeq; NP_000537.3; NM_000546.5. [P04637-1]
RefSeq; NP_001119584.1; NM_001126112.2. [P04637-1]
RefSeq; NP_001119585.1; NM_001126113.2. [P04637-3]
RefSeq; NP_001119586.1; NM_001126114.2. [P04637-2]
RefSeq; NP_001119587.1; NM_001126115.1. [P04637-7]
RefSeq; NP_001119588.1; NM_001126116.1. [P04637-8]
RefSeq; NP_001119589.1; NM_001126117.1. [P04637-9]
RefSeq; NP_001119590.1; NM_001126118.1. [P04637-4]
RefSeq; NP_001263624.1; NM_001276695.1. [P04637-6]
RefSeq; NP_001263625.1; NM_001276696.1. [P04637-5]
RefSeq; NP_001263626.1; NM_001276697.1.
RefSeq; NP_001263627.1; NM_001276698.1.
RefSeq; NP_001263628.1; NM_001276699.1.
RefSeq; NP_001263689.1; NM_001276760.1. [P04637-4]
RefSeq; NP_001263690.1; NM_001276761.1. [P04637-4]
UniGene; Hs.437460; -.
UniGene; Hs.740601; -.
PDB; 1A1U; NMR; -; A/C=324-358.
PDB; 1AIE; X-ray; 1.50 A; A=326-356.
PDB; 1C26; X-ray; 1.70 A; A=325-356.
PDB; 1DT7; NMR; -; X/Y=367-388.
PDB; 1GZH; X-ray; 2.60 A; A/C=95-292.
PDB; 1H26; X-ray; 2.24 A; E=376-386.
PDB; 1HS5; NMR; -; A/B=324-357.
PDB; 1JSP; NMR; -; A=367-386.
PDB; 1KZY; X-ray; 2.50 A; A/B=95-289.
PDB; 1MA3; X-ray; 2.00 A; B=372-389.
PDB; 1OLG; NMR; -; A/B/C/D=319-360.
PDB; 1OLH; NMR; -; A/B/C/D=319-360.
PDB; 1PES; NMR; -; A/B/C/D=325-355.
PDB; 1PET; NMR; -; A/B/C/D=325-355.
PDB; 1SAE; NMR; -; A/B/C/D=319-360.
PDB; 1SAF; NMR; -; A/B/C/D=319-360.
PDB; 1SAK; NMR; -; A/B/C/D=319-360.
PDB; 1SAL; NMR; -; A/B/C/D=319-360.
PDB; 1TSR; X-ray; 2.20 A; A/B/C=94-312.
PDB; 1TUP; X-ray; 2.20 A; A/B/C=94-312.
PDB; 1UOL; X-ray; 1.90 A; A/B=94-312.
PDB; 1XQH; X-ray; 1.75 A; B/F=369-377.
PDB; 1YC5; X-ray; 1.40 A; B=372-389.
PDB; 1YCQ; X-ray; 2.30 A; B=13-29.
PDB; 1YCR; X-ray; 2.60 A; B=15-29.
PDB; 1YCS; X-ray; 2.20 A; A=94-292.
PDB; 2AC0; X-ray; 1.80 A; A/B/C/D=94-293.
PDB; 2ADY; X-ray; 2.50 A; A/B=94-293.
PDB; 2AHI; X-ray; 1.85 A; A/B/C/D=94-293.
PDB; 2ATA; X-ray; 2.20 A; A/B/C/D=94-293.
PDB; 2B3G; X-ray; 1.60 A; B=33-60.
PDB; 2BIM; X-ray; 1.98 A; A/B=94-312.
PDB; 2BIN; X-ray; 1.90 A; A=94-312.
PDB; 2BIO; X-ray; 1.90 A; A=94-312.
PDB; 2BIP; X-ray; 1.80 A; A=94-312.
PDB; 2BIQ; X-ray; 1.80 A; A=94-312.
PDB; 2F1X; X-ray; 2.30 A; A/B=359-368.
PDB; 2FEJ; NMR; -; A=94-297.
PDB; 2FOJ; X-ray; 1.60 A; B=361-367.
PDB; 2FOO; X-ray; 2.20 A; B=358-363.
PDB; 2GS0; NMR; -; B=20-73.
PDB; 2H1L; X-ray; 3.16 A; M/N/O/P/Q/R/S/T/U/V/W/X=92-292.
PDB; 2H2D; X-ray; 1.70 A; B=372-389.
PDB; 2H2F; X-ray; 2.20 A; B=372-389.
PDB; 2H4F; X-ray; 2.00 A; D=372-389.
PDB; 2H4H; X-ray; 1.99 A; B=372-389.
PDB; 2H4J; X-ray; 2.10 A; D=372-389.
PDB; 2H59; X-ray; 1.90 A; D/E=372-389.
PDB; 2J0Z; NMR; -; A/B/C/D=326-356.
PDB; 2J10; NMR; -; A/B/C/D=326-356.
PDB; 2J11; NMR; -; A/B/C/D=326-356.
PDB; 2J1W; X-ray; 1.80 A; A/B=94-312.
PDB; 2J1X; X-ray; 1.65 A; A/B=94-312.
PDB; 2J1Y; X-ray; 1.69 A; A/B/C/D=94-293.
PDB; 2J1Z; X-ray; 1.80 A; A/B=94-312.
PDB; 2J20; X-ray; 1.80 A; A/B=94-312.
PDB; 2J21; X-ray; 1.60 A; A/B=94-312.
PDB; 2K8F; NMR; -; B=1-39.
PDB; 2L14; NMR; -; B=13-61.
PDB; 2LY4; NMR; -; B=1-93.
PDB; 2MEJ; NMR; -; B=96-312.
PDB; 2MWO; NMR; -; B=363-377.
PDB; 2MWP; NMR; -; B=376-387.
PDB; 2MWY; NMR; -; B=15-29.
PDB; 2MZD; NMR; -; B=35-59.
PDB; 2OCJ; X-ray; 2.05 A; A/B/C/D=94-312.
PDB; 2PCX; X-ray; 1.54 A; A=94-292.
PDB; 2RUK; NMR; -; A=41-62.
PDB; 2VUK; X-ray; 1.50 A; A/B=94-312.
PDB; 2WGX; X-ray; 1.75 A; A/B=94-312.
PDB; 2X0U; X-ray; 1.60 A; A/B=94-312.
PDB; 2X0V; X-ray; 1.80 A; A/B=94-312.
PDB; 2X0W; X-ray; 2.10 A; A/B=94-312.
PDB; 2XWR; X-ray; 1.68 A; A/B=89-293.
PDB; 2YBG; X-ray; 1.90 A; A/B/C/D=94-293.
PDB; 2YDR; X-ray; 2.75 A; P=144-154.
PDB; 2Z5S; X-ray; 2.30 A; P/Q/R=15-29.
PDB; 2Z5T; X-ray; 2.30 A; P/Q/R=15-29.
PDB; 3D05; X-ray; 1.70 A; A=94-293.
PDB; 3D06; X-ray; 1.20 A; A=94-293.
PDB; 3D07; X-ray; 2.20 A; A/B=94-293.
PDB; 3D08; X-ray; 1.40 A; A=94-293.
PDB; 3D09; X-ray; 1.90 A; A=94-293.
PDB; 3D0A; X-ray; 1.80 A; A/B/C/D=94-293.
PDB; 3DAB; X-ray; 1.90 A; B/D/F/H=15-29.
PDB; 3DAC; X-ray; 1.80 A; B/P=17-37.
PDB; 3IGK; X-ray; 1.70 A; A=94-293.
PDB; 3IGL; X-ray; 1.80 A; A=94-293.
PDB; 3KMD; X-ray; 2.15 A; A/B/C/D=92-291.
PDB; 3KZ8; X-ray; 1.91 A; A/B=94-293.
PDB; 3LW1; X-ray; 1.28 A; P=385-393.
PDB; 3OQ5; X-ray; 2.50 A; D/E=377-386.
PDB; 3PDH; X-ray; 1.80 A; D=372-389.
PDB; 3Q01; X-ray; 2.10 A; A/B=94-356.
PDB; 3Q05; X-ray; 2.40 A; A/B/C/D=94-356.
PDB; 3Q06; X-ray; 3.20 A; A/B/C/D=96-354.
PDB; 3SAK; NMR; -; A/B/C/D=319-360.
PDB; 3TG5; X-ray; 2.30 A; B=365-375.
PDB; 3TS8; X-ray; 2.80 A; A/B/C/D=94-356.
PDB; 3ZME; X-ray; 1.35 A; A/B=94-312.
PDB; 4AGL; X-ray; 1.70 A; A/B=94-312.
PDB; 4AGM; X-ray; 1.52 A; A/B=94-312.
PDB; 4AGN; X-ray; 1.60 A; A/B=94-312.
PDB; 4AGO; X-ray; 1.45 A; A/B=94-312.
PDB; 4AGP; X-ray; 1.50 A; A/B=94-312.
PDB; 4AGQ; X-ray; 1.42 A; A/B=94-312.
PDB; 4BUZ; X-ray; 1.90 A; P=379-386.
PDB; 4BV2; X-ray; 3.30 A; E/H=376-388.
PDB; 4HFZ; X-ray; 2.69 A; B/D=15-29.
PDB; 4HJE; X-ray; 1.91 A; A/B/C/D=92-291.
PDB; 4IBQ; X-ray; 1.80 A; A/B/C/D=94-293.
PDB; 4IBS; X-ray; 1.78 A; A/B/C/D=94-293.
PDB; 4IBT; X-ray; 1.70 A; A/B/C/D=94-293.
PDB; 4IBU; X-ray; 1.70 A; A/B/C/D=94-293.
PDB; 4IBV; X-ray; 2.10 A; A=94-293.
PDB; 4IBW; X-ray; 1.79 A; A=94-293.
PDB; 4IBY; X-ray; 1.45 A; A/B=94-293.
PDB; 4IBZ; X-ray; 1.92 A; A/B/C/D=94-293.
PDB; 4IJT; X-ray; 1.78 A; A=94-293.
PDB; 4KVP; X-ray; 1.50 A; A/B/C/D=94-312.
PDB; 4LO9; X-ray; 2.50 A; A/B/C/D=94-312.
PDB; 4LOE; X-ray; 1.85 A; A/B/C/D=94-312.
PDB; 4LOF; X-ray; 2.00 A; A=94-312.
PDB; 4MZI; X-ray; 1.25 A; A=94-292.
PDB; 4MZR; X-ray; 2.90 A; A/B/C/D=94-388.
PDB; 4QO1; X-ray; 1.92 A; B=92-312.
PDB; 4RP6; X-ray; 1.70 A; Z=252-258.
PDB; 4RP7; X-ray; 1.58 A; Z=253-258.
PDB; 4X34; X-ray; 1.80 A; C/D=377-386.
PDB; 4XR8; X-ray; 2.25 A; C/D=94-292.
PDB; 4ZZJ; X-ray; 2.74 A; B=379-383.
PDB; 5A7B; X-ray; 1.40 A; A/B=94-312.
PDB; 5AB9; X-ray; 1.36 A; A/B=94-312.
PDB; 5ABA; X-ray; 1.62 A; A/B=94-312.
PDB; 5AOI; X-ray; 1.78 A; A/B=94-312.
PDB; 5AOJ; X-ray; 1.47 A; A/B=94-312.
PDB; 5AOK; X-ray; 1.35 A; A/B=94-312.
PDB; 5AOL; X-ray; 1.50 A; A/B=94-312.
PDB; 5AOM; X-ray; 1.74 A; A/B=94-312.
PDB; 5BUA; X-ray; 1.81 A; A=94-293.
PDB; 5ECG; X-ray; 3.00 A; A/B=95-312.
PDB; 5G4M; X-ray; 1.38 A; A/B=94-312.
PDB; 5G4N; X-ray; 1.35 A; A/B=94-312.
PDB; 5G4O; X-ray; 1.48 A; A/B=94-312.
PDB; 5HOU; NMR; -; A=1-61.
PDB; 5HP0; NMR; -; A=37-61.
PDB; 5HPD; NMR; -; A=2-61.
PDB; 5LAP; X-ray; 1.42 A; A/B=94-312.
PDB; 5LGY; X-ray; 2.92 A; A/B/C/D=94-291.
PDB; 5UN8; X-ray; 2.13 A; E/F/G/H=144-154.
PDBsum; 1A1U; -.
PDBsum; 1AIE; -.
PDBsum; 1C26; -.
PDBsum; 1DT7; -.
PDBsum; 1GZH; -.
PDBsum; 1H26; -.
PDBsum; 1HS5; -.
PDBsum; 1JSP; -.
PDBsum; 1KZY; -.
PDBsum; 1MA3; -.
PDBsum; 1OLG; -.
PDBsum; 1OLH; -.
PDBsum; 1PES; -.
PDBsum; 1PET; -.
PDBsum; 1SAE; -.
PDBsum; 1SAF; -.
PDBsum; 1SAK; -.
PDBsum; 1SAL; -.
PDBsum; 1TSR; -.
PDBsum; 1TUP; -.
PDBsum; 1UOL; -.
PDBsum; 1XQH; -.
PDBsum; 1YC5; -.
PDBsum; 1YCQ; -.
PDBsum; 1YCR; -.
PDBsum; 1YCS; -.
PDBsum; 2AC0; -.
PDBsum; 2ADY; -.
PDBsum; 2AHI; -.
PDBsum; 2ATA; -.
PDBsum; 2B3G; -.
PDBsum; 2BIM; -.
PDBsum; 2BIN; -.
PDBsum; 2BIO; -.
PDBsum; 2BIP; -.
PDBsum; 2BIQ; -.
PDBsum; 2F1X; -.
PDBsum; 2FEJ; -.
PDBsum; 2FOJ; -.
PDBsum; 2FOO; -.
PDBsum; 2GS0; -.
PDBsum; 2H1L; -.
PDBsum; 2H2D; -.
PDBsum; 2H2F; -.
PDBsum; 2H4F; -.
PDBsum; 2H4H; -.
PDBsum; 2H4J; -.
PDBsum; 2H59; -.
PDBsum; 2J0Z; -.
PDBsum; 2J10; -.
PDBsum; 2J11; -.
PDBsum; 2J1W; -.
PDBsum; 2J1X; -.
PDBsum; 2J1Y; -.
PDBsum; 2J1Z; -.
PDBsum; 2J20; -.
PDBsum; 2J21; -.
PDBsum; 2K8F; -.
PDBsum; 2L14; -.
PDBsum; 2LY4; -.
PDBsum; 2MEJ; -.
PDBsum; 2MWO; -.
PDBsum; 2MWP; -.
PDBsum; 2MWY; -.
PDBsum; 2MZD; -.
PDBsum; 2OCJ; -.
PDBsum; 2PCX; -.
PDBsum; 2RUK; -.
PDBsum; 2VUK; -.
PDBsum; 2WGX; -.
PDBsum; 2X0U; -.
PDBsum; 2X0V; -.
PDBsum; 2X0W; -.
PDBsum; 2XWR; -.
PDBsum; 2YBG; -.
PDBsum; 2YDR; -.
PDBsum; 2Z5S; -.
PDBsum; 2Z5T; -.
PDBsum; 3D05; -.
PDBsum; 3D06; -.
PDBsum; 3D07; -.
PDBsum; 3D08; -.
PDBsum; 3D09; -.
PDBsum; 3D0A; -.
PDBsum; 3DAB; -.
PDBsum; 3DAC; -.
PDBsum; 3IGK; -.
PDBsum; 3IGL; -.
PDBsum; 3KMD; -.
PDBsum; 3KZ8; -.
PDBsum; 3LW1; -.
PDBsum; 3OQ5; -.
PDBsum; 3PDH; -.
PDBsum; 3Q01; -.
PDBsum; 3Q05; -.
PDBsum; 3Q06; -.
PDBsum; 3SAK; -.
PDBsum; 3TG5; -.
PDBsum; 3TS8; -.
PDBsum; 3ZME; -.
PDBsum; 4AGL; -.
PDBsum; 4AGM; -.
PDBsum; 4AGN; -.
PDBsum; 4AGO; -.
PDBsum; 4AGP; -.
PDBsum; 4AGQ; -.
PDBsum; 4BUZ; -.
PDBsum; 4BV2; -.
PDBsum; 4HFZ; -.
PDBsum; 4HJE; -.
PDBsum; 4IBQ; -.
PDBsum; 4IBS; -.
PDBsum; 4IBT; -.
PDBsum; 4IBU; -.
PDBsum; 4IBV; -.
PDBsum; 4IBW; -.
PDBsum; 4IBY; -.
PDBsum; 4IBZ; -.
PDBsum; 4IJT; -.
PDBsum; 4KVP; -.
PDBsum; 4LO9; -.
PDBsum; 4LOE; -.
PDBsum; 4LOF; -.
PDBsum; 4MZI; -.
PDBsum; 4MZR; -.
PDBsum; 4QO1; -.
PDBsum; 4RP6; -.
PDBsum; 4RP7; -.
PDBsum; 4X34; -.
PDBsum; 4XR8; -.
PDBsum; 4ZZJ; -.
PDBsum; 5A7B; -.
PDBsum; 5AB9; -.
PDBsum; 5ABA; -.
PDBsum; 5AOI; -.
PDBsum; 5AOJ; -.
PDBsum; 5AOK; -.
PDBsum; 5AOL; -.
PDBsum; 5AOM; -.
PDBsum; 5BUA; -.
PDBsum; 5ECG; -.
PDBsum; 5G4M; -.
PDBsum; 5G4N; -.
PDBsum; 5G4O; -.
PDBsum; 5HOU; -.
PDBsum; 5HP0; -.
PDBsum; 5HPD; -.
PDBsum; 5LAP; -.
PDBsum; 5LGY; -.
PDBsum; 5UN8; -.
DisProt; DP00086; -.
ProteinModelPortal; P04637; -.
SMR; P04637; -.
BioGrid; 113010; 1032.
CORUM; P04637; -.
DIP; DIP-368N; -.
ELM; P04637; -.
IntAct; P04637; 463.
MINT; MINT-91013; -.
STRING; 9606.ENSP00000269305; -.
BindingDB; P04637; -.
ChEMBL; CHEMBL4096; -.
DrugBank; DB08363; 1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine.
DrugBank; DB00945; Acetylsalicylic acid.
DrugBank; DB05404; AZD 3355.
TCDB; 1.C.110.1.1; the pore-forming pnc-27 peptide of 32 aas from the p53 tumor suppressor protein (pnc-27) family.
iPTMnet; P04637; -.
PhosphoSitePlus; P04637; -.
BioMuta; TP53; -.
DMDM; 269849759; -.
SWISS-2DPAGE; P04637; -.
EPD; P04637; -.
MaxQB; P04637; -.
PaxDb; P04637; -.
PeptideAtlas; P04637; -.
PRIDE; P04637; -.
DNASU; 7157; -.
Ensembl; ENST00000269305; ENSP00000269305; ENSG00000141510. [P04637-1]
Ensembl; ENST00000420246; ENSP00000391127; ENSG00000141510. [P04637-2]
Ensembl; ENST00000445888; ENSP00000391478; ENSG00000141510. [P04637-1]
Ensembl; ENST00000455263; ENSP00000398846; ENSG00000141510. [P04637-3]
Ensembl; ENST00000504290; ENSP00000484409; ENSG00000141510. [P04637-9]
Ensembl; ENST00000504937; ENSP00000481179; ENSG00000141510. [P04637-7]
Ensembl; ENST00000510385; ENSP00000478499; ENSG00000141510. [P04637-8]
Ensembl; ENST00000610292; ENSP00000478219; ENSG00000141510. [P04637-4]
Ensembl; ENST00000610538; ENSP00000480868; ENSG00000141510. [P04637-6]
Ensembl; ENST00000617185; ENSP00000482258; ENSG00000141510. [P04637-2]
Ensembl; ENST00000619485; ENSP00000482537; ENSG00000141510. [P04637-4]
Ensembl; ENST00000620739; ENSP00000481638; ENSG00000141510. [P04637-4]
Ensembl; ENST00000622645; ENSP00000482222; ENSG00000141510. [P04637-5]
GeneID; 7157; -.
KEGG; hsa:7157; -.
UCSC; uc002gij.4; human. [P04637-1]
CTD; 7157; -.
DisGeNET; 7157; -.
EuPathDB; HostDB:ENSG00000141510.16; -.
GeneCards; TP53; -.
GeneReviews; TP53; -.
HGNC; HGNC:11998; TP53.
HPA; CAB002973; -.
HPA; CAB039238; -.
HPA; CAB039239; -.
HPA; CAB072876; -.
HPA; HPA051244; -.
MalaCards; TP53; -.
MIM; 133239; phenotype.
MIM; 151623; phenotype.
MIM; 191170; gene+phenotype.
MIM; 202300; phenotype.
MIM; 211980; phenotype.
MIM; 260500; phenotype.
MIM; 275355; phenotype.
MIM; 614740; phenotype.
neXtProt; NX_P04637; -.
OpenTargets; ENSG00000141510; -.
Orphanet; 1501; Adrenocortical carcinoma.
Orphanet; 67038; B-cell chronic lymphocytic leukemia.
Orphanet; 3318; Essential thrombocythemia.
Orphanet; 1333; Familial pancreatic carcinoma.
Orphanet; 251579; Giant cell glioblastoma.
Orphanet; 251576; Gliosarcoma.
Orphanet; 524; Li-Fraumeni syndrome.
Orphanet; 2807; Papilloma of choroid plexus.
Orphanet; 99860; Precursor B-cell acute lymphoblastic leukemia.
PharmGKB; PA36679; -.
eggNOG; ENOG410IITK; Eukaryota.
eggNOG; ENOG410ZSWV; LUCA.
GeneTree; ENSGT00390000015092; -.
HOVERGEN; HBG005201; -.
InParanoid; P04637; -.
KO; K04451; -.
OMA; PATSWPL; -.
OrthoDB; EOG091G0XY5; -.
PhylomeDB; P04637; -.
TreeFam; TF106101; -.
Reactome; R-HSA-111448; Activation of NOXA and translocation to mitochondria.
Reactome; R-HSA-1257604; PIP3 activates AKT signaling.
Reactome; R-HSA-139915; Activation of PUMA and translocation to mitochondria.
Reactome; R-HSA-1912408; Pre-NOTCH Transcription and Translation.
Reactome; R-HSA-2559580; Oxidative Stress Induced Senescence.
Reactome; R-HSA-2559584; Formation of Senescence-Associated Heterochromatin Foci (SAHF).
Reactome; R-HSA-2559585; Oncogene Induced Senescence.
Reactome; R-HSA-2559586; DNA Damage/Telomere Stress Induced Senescence.
Reactome; R-HSA-3232118; SUMOylation of transcription factors.
Reactome; R-HSA-349425; Autodegradation of the E3 ubiquitin ligase COP1.
Reactome; R-HSA-390471; Association of TriC/CCT with target proteins during biosynthesis.
Reactome; R-HSA-5628897; TP53 Regulates Metabolic Genes.
Reactome; R-HSA-5689880; Ub-specific processing proteases.
Reactome; R-HSA-5689896; Ovarian tumor domain proteases.
Reactome; R-HSA-5693565; Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
Reactome; R-HSA-6785807; Interleukin-4 and 13 signaling.
Reactome; R-HSA-6796648; TP53 Regulates Transcription of DNA Repair Genes.
Reactome; R-HSA-6803204; TP53 Regulates Transcription of Genes Involved in Cytochrome C Release.
Reactome; R-HSA-6803205; TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain.
Reactome; R-HSA-6803207; TP53 Regulates Transcription of Caspase Activators and Caspases.
Reactome; R-HSA-6803211; TP53 Regulates Transcription of Death Receptors and Ligands.
Reactome; R-HSA-6804114; TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest.
Reactome; R-HSA-6804115; TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain.
Reactome; R-HSA-6804116; TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest.
Reactome; R-HSA-6804754; Regulation of TP53 Expression.
Reactome; R-HSA-6804756; Regulation of TP53 Activity through Phosphorylation.
Reactome; R-HSA-6804757; Regulation of TP53 Degradation.
Reactome; R-HSA-6804758; Regulation of TP53 Activity through Acetylation.
Reactome; R-HSA-6804759; Regulation of TP53 Activity through Association with Co-factors.
Reactome; R-HSA-6804760; Regulation of TP53 Activity through Methylation.
Reactome; R-HSA-6811555; PI5P Regulates TP53 Acetylation.
Reactome; R-HSA-69473; G2/M DNA damage checkpoint.
Reactome; R-HSA-69481; G2/M Checkpoints.
Reactome; R-HSA-69541; Stabilization of p53.
Reactome; R-HSA-69895; Transcriptional activation of cell cycle inhibitor p21.
Reactome; R-HSA-8852276; The role of GTSE1 in G2/M progression after G2 checkpoint.
Reactome; R-HSA-8941855; RUNX3 regulates CDKN1A transcription.
Reactome; R-HSA-8943724; Regulation of PTEN gene transcription.
Reactome; R-HSA-983231; Factors involved in megakaryocyte development and platelet production.
SignaLink; P04637; -.
SIGNOR; P04637; -.
ChiTaRS; TP53; human.
EvolutionaryTrace; P04637; -.
GeneWiki; P53; -.
GenomeRNAi; 7157; -.
PMAP-CutDB; P04637; -.
PRO; PR:P04637; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000141510; -.
ExpressionAtlas; P04637; baseline and differential.
Genevisible; P04637; HS.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; IDA:UniProtKB.
GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
GO; GO:0005622; C:intracellular; IDA:CAFA.
GO; GO:0005759; C:mitochondrial matrix; IEA:UniProtKB-SubCell.
GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
GO; GO:0000790; C:nuclear chromatin; IDA:BHF-UCL.
GO; GO:0016363; C:nuclear matrix; IDA:UniProtKB.
GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
GO; GO:0005654; C:nucleoplasm; IDA:UniProtKB.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0016605; C:PML body; IDA:UniProtKB.
GO; GO:0043234; C:protein complex; IDA:CAFA.
GO; GO:0005657; C:replication fork; IBA:GO_Central.
GO; GO:0005524; F:ATP binding; IDA:UniProtKB.
GO; GO:0051087; F:chaperone binding; IPI:UniProtKB.
GO; GO:0003682; F:chromatin binding; IDA:UniProtKB.
GO; GO:0005507; F:copper ion binding; IDA:UniProtKB.
GO; GO:0001046; F:core promoter sequence-specific DNA binding; IDA:CAFA.
GO; GO:0003684; F:damaged DNA binding; IBA:GO_Central.
GO; GO:0097718; F:disordered domain specific binding; IPI:CAFA.
GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
GO; GO:0035035; F:histone acetyltransferase binding; IPI:UniProtKB.
GO; GO:0042826; F:histone deacetylase binding; IPI:CAFA.
GO; GO:0042802; F:identical protein binding; IMP:CAFA.
GO; GO:0003730; F:mRNA 3'-UTR binding; IDA:CAFA.
GO; GO:0002039; F:p53 binding; IPI:CAFA.
GO; GO:0002020; F:protease binding; IPI:UniProtKB.
GO; GO:0046982; F:protein heterodimerization activity; IPI:UniProtKB.
GO; GO:0019901; F:protein kinase binding; IPI:UniProtKB.
GO; GO:0047485; F:protein N-terminus binding; IPI:UniProtKB.
GO; GO:0051721; F:protein phosphatase 2A binding; IPI:UniProtKB.
GO; GO:0019903; F:protein phosphatase binding; IPI:UniProtKB.
GO; GO:0043621; F:protein self-association; IPI:AgBase.
GO; GO:0030971; F:receptor tyrosine kinase binding; IPI:BHF-UCL.
GO; GO:0000977; F:RNA polymerase II regulatory region sequence-specific DNA binding; IDA:ParkinsonsUK-UCL.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0001085; F:RNA polymerase II transcription factor binding; IPI:BHF-UCL.
GO; GO:0000990; F:transcription factor activity, core RNA polymerase binding; IDA:CAFA.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0008134; F:transcription factor binding; IPI:UniProtKB.
GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:BHF-UCL.
GO; GO:0001228; F:transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding; IDA:BHF-UCL.
GO; GO:0031625; F:ubiquitin protein ligase binding; IPI:UniProtKB.
GO; GO:0008270; F:zinc ion binding; TAS:UniProtKB.
GO; GO:0006914; P:autophagy; IMP:CAFA.
GO; GO:0006284; P:base-excision repair; TAS:UniProtKB.
GO; GO:0007569; P:cell aging; IMP:UniProtKB.
GO; GO:0007050; P:cell cycle arrest; IDA:BHF-UCL.
GO; GO:0030154; P:cell differentiation; TAS:UniProtKB.
GO; GO:0008283; P:cell proliferation; TAS:UniProtKB.
GO; GO:0034613; P:cellular protein localization; IDA:UniProtKB.
GO; GO:0072717; P:cellular response to actinomycin D; IDA:CAFA.
GO; GO:0006974; P:cellular response to DNA damage stimulus; IDA:UniProtKB.
GO; GO:0035690; P:cellular response to drug; IEP:UniProtKB.
GO; GO:0071480; P:cellular response to gamma radiation; IDA:CAFA.
GO; GO:0042149; P:cellular response to glucose starvation; IDA:UniProtKB.
GO; GO:0071456; P:cellular response to hypoxia; IEP:UniProtKB.
GO; GO:0071479; P:cellular response to ionizing radiation; IMP:BHF-UCL.
GO; GO:0034644; P:cellular response to UV; IDA:CAFA.
GO; GO:0031497; P:chromatin assembly; IDA:UniProtKB.
GO; GO:0048512; P:circadian behavior; ISS:UniProtKB.
GO; GO:0008340; P:determination of adult lifespan; ISS:BHF-UCL.
GO; GO:0030330; P:DNA damage response, signal transduction by p53 class mediator; IDA:BHF-UCL.
GO; GO:0006977; P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; IMP:CAFA.
GO; GO:0006978; P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; IDA:CAFA.
GO; GO:0000733; P:DNA strand renaturation; IDA:UniProtKB.
GO; GO:0043153; P:entrainment of circadian clock by photoperiod; ISS:UniProtKB.
GO; GO:0006983; P:ER overload response; IDA:MGI.
GO; GO:0038111; P:interleukin-7-mediated signaling pathway; TAS:Reactome.
GO; GO:0097193; P:intrinsic apoptotic signaling pathway; TAS:HGNC.
GO; GO:0072332; P:intrinsic apoptotic signaling pathway by p53 class mediator; IMP:UniProtKB.
GO; GO:0042771; P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; IDA:UniProtKB.
GO; GO:0031571; P:mitotic G1 DNA damage checkpoint; IMP:BHF-UCL.
GO; GO:0009299; P:mRNA transcription; IMP:UniProtKB.
GO; GO:0007275; P:multicellular organism development; IMP:UniProtKB.
GO; GO:0043066; P:negative regulation of apoptotic process; IDA:UniProtKB.
GO; GO:0030308; P:negative regulation of cell growth; IMP:UniProtKB.
GO; GO:0008285; P:negative regulation of cell proliferation; IDA:CACAO.
GO; GO:0048147; P:negative regulation of fibroblast proliferation; IMP:UniProtKB.
GO; GO:0051097; P:negative regulation of helicase activity; TAS:UniProtKB.
GO; GO:0051974; P:negative regulation of telomerase activity; IDA:BHF-UCL.
GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0006289; P:nucleotide-excision repair; IMP:UniProtKB.
GO; GO:0097252; P:oligodendrocyte apoptotic process; IDA:UniProtKB.
GO; GO:0090403; P:oxidative stress-induced premature senescence; IMP:BHF-UCL.
GO; GO:0048015; P:phosphatidylinositol-mediated signaling; TAS:Reactome.
GO; GO:0043065; P:positive regulation of apoptotic process; IDA:UniProtKB.
GO; GO:0071158; P:positive regulation of cell cycle arrest; IDA:CAFA.
GO; GO:1900119; P:positive regulation of execution phase of apoptosis; IMP:AgBase.
GO; GO:0010628; P:positive regulation of gene expression; IDA:CAFA.
GO; GO:0031065; P:positive regulation of histone deacetylation; IBA:GO_Central.
GO; GO:2001244; P:positive regulation of intrinsic apoptotic signaling pathway; IMP:UniProtKB.
GO; GO:0043525; P:positive regulation of neuron apoptotic process; IBA:GO_Central.
GO; GO:0050731; P:positive regulation of peptidyl-tyrosine phosphorylation; ISS:BHF-UCL.
GO; GO:1902895; P:positive regulation of pri-miRNA transcription from RNA polymerase II promoter; IDA:BHF-UCL.
GO; GO:0046827; P:positive regulation of protein export from nucleus; TAS:Reactome.
GO; GO:1900740; P:positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway; TAS:Reactome.
GO; GO:0032461; P:positive regulation of protein oligomerization; IDA:UniProtKB.
GO; GO:2000379; P:positive regulation of reactive oxygen species metabolic process; IMP:BHF-UCL.
GO; GO:0090200; P:positive regulation of release of cytochrome c from mitochondria; IDA:UniProtKB.
GO; GO:0070245; P:positive regulation of thymocyte apoptotic process; ISS:BHF-UCL.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
GO; GO:1990440; P:positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress; ISS:ParkinsonsUK-UCL.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0043161; P:proteasome-mediated ubiquitin-dependent protein catabolic process; TAS:Reactome.
GO; GO:0006461; P:protein complex assembly; IDA:UniProtKB.
GO; GO:0016579; P:protein deubiquitination; TAS:Reactome.
GO; GO:0051289; P:protein homotetramerization; IMP:CAFA.
GO; GO:0008104; P:protein localization; IDA:UniProtKB.
GO; GO:0051262; P:protein tetramerization; TAS:UniProtKB.
GO; GO:0007265; P:Ras protein signal transduction; IEP:BHF-UCL.
GO; GO:0042981; P:regulation of apoptotic process; IDA:MGI.
GO; GO:1902749; P:regulation of cell cycle G2/M phase transition; TAS:Reactome.
GO; GO:0046902; P:regulation of mitochondrial membrane permeability; TAS:UniProtKB.
GO; GO:1901796; P:regulation of signal transduction by p53 class mediator; TAS:Reactome.
GO; GO:0006355; P:regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0090399; P:replicative senescence; IMP:BHF-UCL.
GO; GO:0046677; P:response to antibiotic; IEP:UniProtKB.
GO; GO:0010332; P:response to gamma radiation; IMP:BHF-UCL.
GO; GO:0010165; P:response to X-ray; IBA:GO_Central.
GO; GO:0072331; P:signal transduction by p53 class mediator; IDA:CAFA.
GO; GO:0016032; P:viral process; IMP:CACAO.
CDD; cd08367; P53; 1.
Gene3D; 2.60.40.720; -; 1.
Gene3D; 4.10.170.10; -; 1.
InterPro; IPR008967; p53-like_TF_DNA-bd.
InterPro; IPR012346; p53/RUNT-type_TF_DNA-bd.
InterPro; IPR011615; p53_DNA-bd.
InterPro; IPR036674; p53_tetramer_sf.
InterPro; IPR010991; p53_tetrameristn.
InterPro; IPR013872; p53_transactivation_domain.
InterPro; IPR002117; p53_tumour_suppressor.
PANTHER; PTHR11447; PTHR11447; 1.
Pfam; PF00870; P53; 1.
Pfam; PF08563; P53_TAD; 1.
Pfam; PF07710; P53_tetramer; 1.
PRINTS; PR00386; P53SUPPRESSR.
SUPFAM; SSF47719; SSF47719; 1.
SUPFAM; SSF49417; SSF49417; 1.
PROSITE; PS00348; P53; 1.
1: Evidence at protein level;
3D-structure; Acetylation; Activator; Alternative promoter usage;
Alternative splicing; Apoptosis; Biological rhythms; Cell cycle;
Complete proteome; Cytoplasm; Disease mutation; DNA-binding;
Endoplasmic reticulum; Glycoprotein; Host-virus interaction;
Isopeptide bond; Li-Fraumeni syndrome; Metal-binding; Methylation;
Mitochondrion; Necrosis; Nucleus; Phosphoprotein; Polymorphism;
Reference proteome; Repressor; Transcription;
Transcription regulation; Tumor suppressor; Ubl conjugation; Zinc.
CHAIN 1 393 Cellular tumor antigen p53.
/FTId=PRO_0000185703.
DNA_BIND 102 292
REGION 1 320 Interaction with CCAR2.
{ECO:0000269|PubMed:25732823}.
REGION 1 83 Interaction with HRMT1L2.
{ECO:0000269|PubMed:15186775}.
REGION 1 44 Transcription activation (acidic).
REGION 66 110 Interaction with WWOX.
REGION 100 370 Interaction with HIPK1. {ECO:0000250}.
REGION 100 300 Required for interaction with ZNF385A.
{ECO:0000269|PubMed:17719541}.
REGION 113 236 Required for interaction with FBXO42.
{ECO:0000269|PubMed:19509332}.
REGION 116 292 Interaction with AXIN1. {ECO:0000250}.
REGION 241 248 Interaction with the 53BP2 SH3 domain.
REGION 256 294 Interaction with E4F1.
{ECO:0000269|PubMed:10644996}.
REGION 273 280 Interaction with DNA.
REGION 300 393 Interaction with CARM1.
{ECO:0000269|PubMed:15186775}.
REGION 319 360 Interaction with HIPK2.
REGION 325 356 Oligomerization.
REGION 359 363 Interaction with USP7.
REGION 368 387 Basic (repression of DNA-binding).
MOTIF 17 25 TADI.
MOTIF 48 56 TADII.
MOTIF 305 321 Bipartite nuclear localization signal.
MOTIF 339 350 Nuclear export signal.
MOTIF 370 372 [KR]-[STA]-K motif.
METAL 176 176 Zinc.
METAL 179 179 Zinc.
METAL 238 238 Zinc.
METAL 242 242 Zinc.
SITE 120 120 Interaction with DNA.
MOD_RES 9 9 Phosphoserine; by HIPK4.
{ECO:0000269|PubMed:18022393}.
MOD_RES 15 15 Phosphoserine; by CDK5, PRPK, AMPK, NUAK1
and ATM. {ECO:0000269|PubMed:10570149,
ECO:0000269|PubMed:11554766,
ECO:0000269|PubMed:15701641,
ECO:0000269|PubMed:15866171,
ECO:0000269|PubMed:17108107,
ECO:0000269|PubMed:17591690,
ECO:0000269|PubMed:17967874,
ECO:0000269|PubMed:21317932}.
MOD_RES 18 18 Phosphothreonine; by CK1, VRK1 and VRK2.
{ECO:0000269|PubMed:10606744,
ECO:0000269|PubMed:10951572,
ECO:0000269|PubMed:16704422}.
MOD_RES 20 20 Phosphoserine; by CHEK2, CK1 and PLK3.
{ECO:0000269|PubMed:10570149,
ECO:0000269|PubMed:11447225,
ECO:0000269|PubMed:11551930,
ECO:0000269|PubMed:12810724,
ECO:0000269|PubMed:20041275}.
MOD_RES 33 33 Phosphoserine; by CDK5 and CDK7.
{ECO:0000269|PubMed:17591690,
ECO:0000269|PubMed:9372954}.
MOD_RES 37 37 Phosphoserine; by MAPKAPK5.
{ECO:0000269|PubMed:17254968}.
MOD_RES 46 46 Phosphoserine; by CDK5, DYRK2, HIPK2 and
PKC/PRKCG. {ECO:0000269|PubMed:11740489,
ECO:0000269|PubMed:11780126,
ECO:0000269|PubMed:16377624,
ECO:0000269|PubMed:17349958,
ECO:0000269|PubMed:17591690}.
MOD_RES 55 55 Phosphothreonine; by TAF1 and GRK5.
{ECO:0000269|PubMed:15053879,
ECO:0000269|PubMed:20124405}.
MOD_RES 120 120 N6-acetyllysine; by KAT6A.
{ECO:0000269|PubMed:23431171}.
MOD_RES 183 183 Phosphoserine; by AURKB.
{ECO:0000269|PubMed:20959462}.
MOD_RES 269 269 Phosphoserine; by AURKB.
{ECO:0000269|PubMed:20959462}.
MOD_RES 284 284 Phosphothreonine; by AURKB.
{ECO:0000269|PubMed:20959462}.
MOD_RES 305 305 N6-acetyllysine.
{ECO:0000269|PubMed:12724314}.
MOD_RES 315 315 Phosphoserine; by AURKA, CDK1 and CDK2.
{ECO:0000269|PubMed:10884347,
ECO:0000269|PubMed:14702041}.
MOD_RES 321 321 N6-acetyllysine.
{ECO:0000250|UniProtKB:P02340}.
MOD_RES 370 370 N6,N6-dimethyllysine; alternate.
{ECO:0000269|PubMed:17108971,
ECO:0000269|PubMed:22864287}.
MOD_RES 370 370 N6-methyllysine; by SMYD2; alternate.
{ECO:0000269|PubMed:17108971,
ECO:0000269|PubMed:22864287}.
MOD_RES 372 372 N6-methyllysine; by SETD7.
{ECO:0000269|PubMed:15525938,
ECO:0000269|PubMed:16415881}.
MOD_RES 373 373 N6,N6-dimethyllysine; by EHMT1 and EHMT2;
alternate. {ECO:0000269|PubMed:20118233}.
MOD_RES 373 373 N6-acetyllysine; alternate.
{ECO:0000269|PubMed:10656795}.
MOD_RES 381 381 N6-acetyllysine.
{ECO:0000244|PubMed:19608861}.
MOD_RES 382 382 N6,N6-dimethyllysine; alternate.
{ECO:0000269|PubMed:17707234,
ECO:0000269|PubMed:20870725,
ECO:0000269|PubMed:22864287}.
MOD_RES 382 382 N6-acetyllysine; by KAT6A; alternate.
{ECO:0000244|PubMed:19608861,
ECO:0000269|PubMed:10656795,
ECO:0000269|PubMed:20228809,
ECO:0000269|PubMed:23431171}.
MOD_RES 382 382 N6-methyllysine; by KMT5A; alternate.
{ECO:0000269|PubMed:17707234,
ECO:0000269|PubMed:20870725,
ECO:0000269|PubMed:22864287}.
MOD_RES 392 392 Phosphoserine; by CK2, CDK2 and NUAK1.
{ECO:0000269|PubMed:10884347,
ECO:0000269|PubMed:11239457,
ECO:0000269|PubMed:17108107,
ECO:0000269|PubMed:21317932,
ECO:0000269|PubMed:22214662}.
CROSSLNK 291 291 Glycyl lysine isopeptide (Lys-Gly)
(interchain with G-Cter in ubiquitin).
{ECO:0000269|PubMed:19536131}.
CROSSLNK 292 292 Glycyl lysine isopeptide (Lys-Gly)
(interchain with G-Cter in ubiquitin).
{ECO:0000269|PubMed:19536131}.
CROSSLNK 386 386 Glycyl lysine isopeptide (Lys-Gly)
(interchain with G-Cter in SUMO).
{ECO:0000269|PubMed:11124955,
ECO:0000269|PubMed:22214662,
ECO:0000269|Ref.35}.
VAR_SEQ 1 132 Missing (in isoform 7, isoform 8 and
isoform 9).
{ECO:0000303|PubMed:16131611}.
/FTId=VSP_040833.
VAR_SEQ 1 39 Missing (in isoform 4, isoform 5 and
isoform 6). {ECO:0000305}.
/FTId=VSP_040832.
VAR_SEQ 332 346 IRGRERFEMFRELNE -> MLLDLRWCYFLINSS (in
isoform 3, isoform 6 and isoform 9).
{ECO:0000303|PubMed:16131611}.
/FTId=VSP_040560.
VAR_SEQ 332 341 IRGRERFEMF -> DQTSFQKENC (in isoform 2,
isoform 5 and isoform 8).
{ECO:0000303|PubMed:16131611}.
/FTId=VSP_006535.
VAR_SEQ 342 393 Missing (in isoform 2, isoform 5 and
isoform 8).
{ECO:0000303|PubMed:16131611}.
/FTId=VSP_006536.
VAR_SEQ 347 393 Missing (in isoform 3, isoform 6 and
isoform 9).
{ECO:0000303|PubMed:16131611}.
/FTId=VSP_040561.
VARIANT 5 5 Q -> H (in a sporadic cancer; somatic
mutation; abolishes strongly
phosphorylation).
/FTId=VAR_044543.
VARIANT 6 6 S -> L (in a sporadic cancer; somatic
mutation; reduces interaction with
ZNF385A).
/FTId=VAR_044544.
VARIANT 7 7 D -> H (in a sporadic cancer; somatic
mutation; dbSNP:rs587782646).
/FTId=VAR_005851.
VARIANT 8 8 P -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044545.
VARIANT 10 10 V -> I (in a sporadic cancer; somatic
mutation; dbSNP:rs535274413).
/FTId=VAR_044546.
VARIANT 11 11 E -> K (in sporadic cancers; somatic
mutation; dbSNP:rs201382018).
/FTId=VAR_044547.
VARIANT 11 11 E -> Q (in sporadic cancers; somatic
mutation; dbSNP:rs201382018).
/FTId=VAR_044548.
VARIANT 15 15 S -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044549.
VARIANT 16 16 Q -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044550.
VARIANT 17 17 E -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044551.
VARIANT 24 24 K -> N (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044552.
VARIANT 28 28 E -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044553.
VARIANT 29 30 NN -> KD (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047158.
VARIANT 31 31 V -> I (in sporadic cancers; somatic
mutation; dbSNP:rs201753350).
/FTId=VAR_044554.
VARIANT 33 33 S -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044555.
VARIANT 34 34 P -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044556.
VARIANT 35 35 L -> F (in sporadic cancers; somatic
mutation; dbSNP:rs121912661).
/FTId=VAR_005852.
VARIANT 36 36 P -> L (in a sporadic cancer; somatic
mutation; dbSNP:rs587781866).
/FTId=VAR_044557.
VARIANT 37 37 S -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044558.
VARIANT 37 37 S -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044559.
VARIANT 39 39 A -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044560.
VARIANT 39 39 A -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044561.
VARIANT 42 42 D -> Y (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044562.
VARIANT 43 43 L -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_005853.
VARIANT 44 44 M -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044563.
VARIANT 44 44 M -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044564.
VARIANT 44 44 M -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044565.
VARIANT 45 45 L -> M (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044566.
VARIANT 46 46 S -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_044567.
VARIANT 46 46 S -> P (in sporadic cancers; somatic
mutation; dbSNP:rs876659630).
/FTId=VAR_044568.
VARIANT 47 47 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044569.
VARIANT 47 47 P -> S (in dbSNP:rs1800371).
{ECO:0000269|Ref.12}.
/FTId=VAR_014632.
VARIANT 48 48 D -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044570.
VARIANT 49 49 D -> H (in sporadic cancers; somatic
mutation; dbSNP:rs587780728).
/FTId=VAR_044571.
VARIANT 49 49 D -> N (in a sporadic cancer; somatic
mutation; dbSNP:rs587780728).
/FTId=VAR_044572.
VARIANT 49 49 D -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_044573.
VARIANT 52 52 Q -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044574.
VARIANT 53 53 W -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_005854.
VARIANT 53 53 W -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044575.
VARIANT 54 54 F -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044576.
VARIANT 54 54 F -> Y (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044577.
VARIANT 56 56 E -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_044578.
VARIANT 56 56 E -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044579.
VARIANT 58 58 P -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044580.
VARIANT 58 58 P -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044581.
VARIANT 59 59 G -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_044582.
VARIANT 59 59 G -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044583.
VARIANT 59 59 G -> N (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045783.
VARIANT 60 60 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044584.
VARIANT 60 60 P -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044585.
VARIANT 60 60 P -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_005855.
VARIANT 61 61 D -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044586.
VARIANT 61 61 D -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_044587.
VARIANT 62 62 E -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044588.
VARIANT 63 63 A -> T (in a sporadic cancer; somatic
mutation; dbSNP:rs876658902).
/FTId=VAR_044589.
VARIANT 63 63 A -> V (in a sporadic cancer; somatic
mutation; dbSNP:rs372201428).
/FTId=VAR_044590.
VARIANT 65 65 R -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044591.
VARIANT 66 66 M -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044592.
VARIANT 66 66 M -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044593.
VARIANT 67 67 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044594.
VARIANT 67 67 P -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044595.
VARIANT 67 67 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044596.
VARIANT 68 68 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044597.
VARIANT 68 68 E -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044598.
VARIANT 69 69 A -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044599.
VARIANT 69 69 A -> G (in sporadic cancers; somatic
mutation; dbSNP:rs756233241).
/FTId=VAR_044600.
VARIANT 69 69 A -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044601.
VARIANT 69 69 A -> V (in a sporadic cancer; somatic
mutation; dbSNP:rs756233241).
/FTId=VAR_044602.
VARIANT 70 70 A -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044603.
VARIANT 71 71 P -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044604.
VARIANT 72 72 P -> C (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions; dbSNP:rs730882014).
/FTId=VAR_045784.
VARIANT 72 72 P -> G (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045785.
VARIANT 72 72 P -> H (in sporadic cancers; somatic
mutation; dbSNP:rs1042522).
/FTId=VAR_045786.
VARIANT 72 72 P -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045787.
VARIANT 72 72 P -> R (in dbSNP:rs1042522).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:16131611,
ECO:0000269|PubMed:1999338,
ECO:0000269|Ref.17}.
/FTId=VAR_005856.
VARIANT 73 73 V -> E (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044605.
VARIANT 73 73 V -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044606.
VARIANT 73 73 V -> M (in sporadic cancers; somatic
mutation; dbSNP:rs587782423).
/FTId=VAR_044607.
VARIANT 74 74 A -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044608.
VARIANT 75 75 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044609.
VARIANT 75 75 P -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044610.
VARIANT 75 75 P -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044611.
VARIANT 76 76 A -> G (in a sporadic cancer; somatic
mutation). {ECO:0000269|PubMed:2946935}.
/FTId=VAR_044612.
VARIANT 76 76 A -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044613.
VARIANT 77 77 P -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044614.
VARIANT 78 78 A -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044615.
VARIANT 79 79 A -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044616.
VARIANT 79 79 A -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_005857.
VARIANT 79 79 A -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044617.
VARIANT 80 80 P -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044618.
VARIANT 80 80 P -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044619.
VARIANT 81 81 T -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044620.
VARIANT 82 82 P -> L (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs534447939).
/FTId=VAR_044621.
VARIANT 82 82 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044622.
VARIANT 83 83 A -> E (in a sporadic cancer; somatic
mutation; dbSNP:rs201717599).
/FTId=VAR_044623.
VARIANT 83 83 A -> V (in sporadic cancers; somatic
mutation; dbSNP:rs201717599).
/FTId=VAR_044624.
VARIANT 84 84 A -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044625.
VARIANT 84 84 A -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044626.
VARIANT 85 85 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044627.
VARIANT 85 85 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044628.
VARIANT 86 86 A -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044629.
VARIANT 87 87 P -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_005858.
VARIANT 88 88 A -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044630.
VARIANT 88 88 A -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044631.
VARIANT 89 89 P -> L (in sporadic cancers; somatic
mutation; dbSNP:rs730881994).
/FTId=VAR_044632.
VARIANT 89 89 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044633.
VARIANT 90 90 S -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_044634.
VARIANT 90 90 S -> Y (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044635.
VARIANT 91 91 W -> C (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044636.
VARIANT 92 92 P -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044637.
VARIANT 92 92 P -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044638.
VARIANT 92 92 P -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044639.
VARIANT 93 93 L -> M (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044640.
VARIANT 93 93 L -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044641.
VARIANT 94 94 S -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044642.
VARIANT 94 94 S -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_005859.
VARIANT 95 95 S -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_044643.
VARIANT 95 95 S -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044644.
VARIANT 96 96 S -> C (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044645.
VARIANT 96 96 S -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_044646.
VARIANT 96 96 S -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044647.
VARIANT 97 97 V -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044648.
VARIANT 97 97 V -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044649.
VARIANT 97 97 V -> I (in familial cancer not matching
LFS; germline mutation and in a sporadic
cancer; somatic mutation).
/FTId=VAR_044650.
VARIANT 98 98 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044651.
VARIANT 98 98 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044652.
VARIANT 99 99 S -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_044653.
VARIANT 99 99 S -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044654.
VARIANT 100 100 Q -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044655.
VARIANT 101 101 K -> N (in a sporadic cancer; somatic
mutation; dbSNP:rs878854069).
/FTId=VAR_044656.
VARIANT 101 101 K -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044657.
VARIANT 102 102 T -> I (in sporadic cancers; somatic
mutation; dbSNP:rs786202717).
/FTId=VAR_044658.
VARIANT 104 104 Q -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044659.
VARIANT 104 104 Q -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044660.
VARIANT 105 105 G -> C (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_044661.
VARIANT 105 105 G -> D (in sporadic cancers; somatic
mutation; dbSNP:rs587781504).
/FTId=VAR_044662.
VARIANT 105 105 G -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044663.
VARIANT 105 105 G -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044664.
VARIANT 105 105 G -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044665.
VARIANT 106 106 S -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044666.
VARIANT 106 106 S -> R (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation).
/FTId=VAR_044667.
VARIANT 107 107 Y -> C (in a sporadic cancer; somatic
mutation; dbSNP:rs587782447).
/FTId=VAR_044668.
VARIANT 107 107 Y -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044669.
VARIANT 107 107 Y -> H (in a sporadic cancer; somatic
mutation; dbSNP:rs368771578).
/FTId=VAR_044670.
VARIANT 108 108 G -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044671.
VARIANT 108 108 G -> S (in sporadic cancers; somatic
mutation; dbSNP:rs587782461).
/FTId=VAR_044672.
VARIANT 109 109 F -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_044673.
VARIANT 109 109 F -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044674.
VARIANT 109 109 F -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044675.
VARIANT 110 110 R -> C (in sporadic cancers; somatic
mutation; dbSNP:rs587781371).
/FTId=VAR_005860.
VARIANT 110 110 R -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044676.
VARIANT 110 110 R -> H (in sporadic cancers; somatic
mutation; dbSNP:rs11540654).
/FTId=VAR_044677.
VARIANT 110 110 R -> L (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation; does not
induce SNAI1 degradation;
dbSNP:rs11540654).
{ECO:0000269|PubMed:20385133}.
/FTId=VAR_005861.
VARIANT 110 110 R -> P (in sporadic cancers; somatic
mutation; dbSNP:rs11540654).
{ECO:0000269|PubMed:17224074}.
/FTId=VAR_005862.
VARIANT 110 110 R -> S (in a sporadic cancer; somatic
mutation; dbSNP:rs587781371).
/FTId=VAR_044678.
VARIANT 111 111 L -> M (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044679.
VARIANT 111 111 L -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044680.
VARIANT 111 111 L -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_044681.
VARIANT 111 111 L -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044682.
VARIANT 112 112 G -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044683.
VARIANT 112 112 G -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044684.
VARIANT 113 113 F -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_005863.
VARIANT 113 113 F -> G (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045788.
VARIANT 113 113 F -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044685.
VARIANT 113 113 F -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044686.
VARIANT 113 113 F -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044687.
VARIANT 113 113 F -> V (in sporadic cancers; somatic
mutation; dbSNP:rs587781642).
{ECO:0000269|PubMed:17224074}.
/FTId=VAR_033033.
VARIANT 115 115 H -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_044688.
VARIANT 116 116 S -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_044689.
VARIANT 116 116 S -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044690.
VARIANT 116 116 S -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044691.
VARIANT 117 117 G -> E (in sporadic cancers; somatic
mutation; dbSNP:rs755238756).
/FTId=VAR_044692.
VARIANT 117 117 G -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044693.
VARIANT 118 118 T -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044694.
VARIANT 118 118 T -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044695.
VARIANT 118 118 T -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044696.
VARIANT 119 119 A -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044697.
VARIANT 119 119 A -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044698.
VARIANT 120 120 K -> E (in sporadic cancers; somatic
mutation; dbSNP:rs121912658).
/FTId=VAR_044699.
VARIANT 120 120 K -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_044700.
VARIANT 120 120 K -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044701.
VARIANT 120 120 K -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044702.
VARIANT 121 121 S -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_044703.
VARIANT 122 122 V -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044704.
VARIANT 123 123 T -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044705.
VARIANT 123 123 T -> N (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044706.
VARIANT 124 124 C -> G (in a sporadic cancer; somatic
mutation; dbSNP:rs730881997).
/FTId=VAR_044707.
VARIANT 124 124 C -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044708.
VARIANT 124 124 C -> S (in sporadic cancers; somatic
mutation; dbSNP:rs730881997).
/FTId=VAR_044709.
VARIANT 124 124 C -> W (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044710.
VARIANT 124 124 C -> Y (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044711.
VARIANT 125 125 T -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044712.
VARIANT 125 125 T -> K (in sporadic cancers; somatic
mutation; dbSNP:rs786201057).
/FTId=VAR_044713.
VARIANT 125 125 T -> M (in sporadic cancers; somatic
mutation; dbSNP:rs786201057).
/FTId=VAR_005864.
VARIANT 125 125 T -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044714.
VARIANT 125 125 T -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044715.
VARIANT 126 126 Y -> C (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation).
/FTId=VAR_044716.
VARIANT 126 126 Y -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_005865.
VARIANT 126 126 Y -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044717.
VARIANT 126 126 Y -> G (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045789.
VARIANT 126 126 Y -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044718.
VARIANT 126 126 Y -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_005866.
VARIANT 126 126 Y -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044719.
VARIANT 127 127 S -> C (in a sporadic cancer; somatic
mutation; dbSNP:rs730881999).
/FTId=VAR_044720.
VARIANT 127 127 S -> F (in sporadic cancers; somatic
mutation; dbSNP:rs730881999).
/FTId=VAR_005867.
VARIANT 127 127 S -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044721.
VARIANT 127 127 S -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044722.
VARIANT 127 127 S -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_044723.
VARIANT 128 128 P -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044724.
VARIANT 128 128 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044725.
VARIANT 128 128 P -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044726.
VARIANT 128 128 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_005868.
VARIANT 129 129 A -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_005869.
VARIANT 129 129 A -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044727.
VARIANT 129 129 A -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044728.
VARIANT 129 129 A -> V (in sporadic cancers; somatic
mutation; dbSNP:rs137852792).
/FTId=VAR_044729.
VARIANT 130 130 L -> F (in sporadic cancers; somatic
mutation; dbSNP:rs863224683).
/FTId=VAR_044730.
VARIANT 130 130 L -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044731.
VARIANT 130 130 L -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044732.
VARIANT 130 130 L -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044733.
VARIANT 130 130 L -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_005870.
VARIANT 130 130 L -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044734.
VARIANT 131 131 N -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044735.
VARIANT 131 131 N -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044736.
VARIANT 131 131 N -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044737.
VARIANT 131 131 N -> K (in sporadic cancers; somatic
mutation; dbSNP:rs769270327).
/FTId=VAR_005872.
VARIANT 131 131 N -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_005871.
VARIANT 131 131 N -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044738.
VARIANT 131 131 N -> Y (in sporadic cancers; somatic
mutation; dbSNP:rs587782160).
/FTId=VAR_044739.
VARIANT 132 133 KM -> NL (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047159.
VARIANT 132 132 K -> E (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs747342068).
/FTId=VAR_044740.
VARIANT 132 132 K -> L (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045790.
VARIANT 132 132 K -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_005873.
VARIANT 132 132 K -> N (in sporadic cancers; somatic
mutation; dbSNP:rs866775781).
/FTId=VAR_044741.
VARIANT 132 132 K -> Q (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:1694291}.
/FTId=VAR_005874.
VARIANT 132 132 K -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044742.
VARIANT 132 132 K -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044743.
VARIANT 132 132 K -> W (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045791.
VARIANT 133 133 M -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044744.
VARIANT 133 133 M -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_044745.
VARIANT 133 133 M -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044746.
VARIANT 133 133 M -> R (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_044747.
VARIANT 133 133 M -> T (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934873).
{ECO:0000269|PubMed:1933902}.
/FTId=VAR_005875.
VARIANT 133 133 M -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044748.
VARIANT 134 134 F -> C (in sporadic cancers; somatic
mutation; dbSNP:rs780442292).
/FTId=VAR_044749.
VARIANT 134 134 F -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044750.
VARIANT 134 134 F -> L (in sporadic cancers; somatic
mutation; dbSNP:rs267605077).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036504.
VARIANT 134 134 F -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044751.
VARIANT 134 134 F -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044752.
VARIANT 135 135 C -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_005877.
VARIANT 135 135 C -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044753.
VARIANT 135 135 C -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044754.
VARIANT 135 135 C -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_005876.
VARIANT 135 135 C -> T (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045792.
VARIANT 135 135 C -> W (in sporadic cancers; somatic
mutation).
/FTId=VAR_044755.
VARIANT 135 135 C -> Y (in sporadic cancers; somatic
mutation; decreased E6-mediated binding
to E6-AP; dbSNP:rs587781991).
/FTId=VAR_044756.
VARIANT 136 136 Q -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_005878.
VARIANT 136 136 Q -> H (in sporadic cancers; somatic
mutation; dbSNP:rs758781593).
/FTId=VAR_044757.
VARIANT 136 136 Q -> K (in a sporadic cancer; somatic
mutation).
/FTId=VAR_005879.
VARIANT 136 136 Q -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044758.
VARIANT 136 136 Q -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044759.
VARIANT 137 137 L -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_044760.
VARIANT 137 137 L -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044761.
VARIANT 137 137 L -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_005880.
VARIANT 137 137 L -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044762.
VARIANT 138 138 A -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044763.
VARIANT 138 138 A -> P (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934875).
/FTId=VAR_005881.
VARIANT 138 138 A -> S (in LFS; germline mutation).
/FTId=VAR_044764.
VARIANT 138 138 A -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044765.
VARIANT 138 138 A -> V (in sporadic cancers; somatic
mutation; dbSNP:rs750600586).
{ECO:0000269|PubMed:17224074}.
/FTId=VAR_033034.
VARIANT 139 139 K -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_044766.
VARIANT 139 139 K -> N (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:14660794}.
/FTId=VAR_005882.
VARIANT 139 139 K -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_044767.
VARIANT 139 139 K -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044768.
VARIANT 139 139 K -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044769.
VARIANT 140 140 T -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044770.
VARIANT 140 140 T -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044771.
VARIANT 140 140 T -> N (in a sporadic cancer; somatic
mutation; dbSNP:rs786202561).
/FTId=VAR_044772.
VARIANT 140 140 T -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044773.
VARIANT 140 140 T -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044774.
VARIANT 141 141 C -> A (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045793.
VARIANT 141 141 C -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_005885.
VARIANT 141 141 C -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_005884.
VARIANT 141 141 C -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044775.
VARIANT 141 141 C -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044776.
VARIANT 141 141 C -> W (in sporadic cancers; somatic
mutation).
/FTId=VAR_044777.
VARIANT 141 141 C -> Y (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587781288).
/FTId=VAR_005886.
VARIANT 142 142 P -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044778.
VARIANT 142 142 P -> F (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045794.
VARIANT 142 142 P -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044779.
VARIANT 142 142 P -> L (in sporadic cancers; somatic
mutation; dbSNP:rs779196500).
/FTId=VAR_044780.
VARIANT 142 142 P -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044781.
VARIANT 142 142 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044782.
VARIANT 142 142 P -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044783.
VARIANT 143 143 V -> A (in sporadic cancers; somatic
mutation; strong DNA binding ability at
32.5 degrees Celsius; strong reduction of
transcriptional activity at 37.5 degrees
Celsius; severely represses interaction
with ZNF385A).
{ECO:0000269|PubMed:17719541,
ECO:0000269|PubMed:8013454}.
/FTId=VAR_005887.
VARIANT 143 143 V -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_044784.
VARIANT 143 143 V -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044785.
VARIANT 143 143 V -> L (in sporadic cancers; somatic
mutation; dbSNP:rs587782620).
/FTId=VAR_044786.
VARIANT 143 143 V -> M (in sporadic cancers; somatic
mutation; dbSNP:rs587782620).
/FTId=VAR_044787.
VARIANT 144 144 Q -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044788.
VARIANT 144 144 Q -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_044789.
VARIANT 144 144 Q -> L (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_044790.
VARIANT 144 144 Q -> P (in sporadic cancers; somatic
mutation; dbSNP:rs786203071).
/FTId=VAR_005888.
VARIANT 144 144 Q -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044791.
VARIANT 145 145 L -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_044792.
VARIANT 145 145 L -> P (in sporadic cancers; somatic
mutation; dbSNP:rs587782197).
/FTId=VAR_005889.
VARIANT 145 145 L -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_005890.
VARIANT 145 145 L -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044793.
VARIANT 145 145 L -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044794.
VARIANT 146 146 W -> C (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044795.
VARIANT 146 146 W -> G (in sporadic cancers; somatic
mutation; dbSNP:rs786203064).
/FTId=VAR_044796.
VARIANT 146 146 W -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044797.
VARIANT 146 146 W -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044798.
VARIANT 146 146 W -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044799.
VARIANT 147 147 V -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044800.
VARIANT 147 147 V -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_005891.
VARIANT 147 147 V -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_044801.
VARIANT 147 147 V -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044802.
VARIANT 147 147 V -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_005892.
VARIANT 147 147 V -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044803.
VARIANT 148 148 D -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044804.
VARIANT 148 148 D -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_044805.
VARIANT 148 148 D -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044806.
VARIANT 148 148 D -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_044807.
VARIANT 148 148 D -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044808.
VARIANT 148 148 D -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_044809.
VARIANT 149 149 S -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_044810.
VARIANT 149 149 S -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_005893.
VARIANT 149 149 S -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044811.
VARIANT 150 150 T -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044812.
VARIANT 150 150 T -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044813.
VARIANT 150 150 T -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_044814.
VARIANT 150 150 T -> N (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044815.
VARIANT 150 150 T -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044816.
VARIANT 150 150 T -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044817.
VARIANT 151 151 P -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_005894.
VARIANT 151 151 P -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044818.
VARIANT 151 151 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044819.
VARIANT 151 151 P -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044820.
VARIANT 151 151 P -> S (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934874).
{ECO:0000269|PubMed:7682763}.
/FTId=VAR_005895.
VARIANT 151 151 P -> T (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934874).
/FTId=VAR_005896.
VARIANT 152 152 P -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044821.
VARIANT 152 152 P -> L (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587782705).
{ECO:0000269|PubMed:1868473}.
/FTId=VAR_005897.
VARIANT 152 152 P -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_044822.
VARIANT 152 152 P -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044823.
VARIANT 152 152 P -> S (in sporadic cancers; somatic
mutation; dbSNP:rs767328513).
{ECO:0000269|PubMed:9450901}.
/FTId=VAR_005898.
VARIANT 152 152 P -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044824.
VARIANT 153 153 P -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044825.
VARIANT 153 153 P -> F (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045795.
VARIANT 153 153 P -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044826.
VARIANT 153 153 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044827.
VARIANT 153 153 P -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044828.
VARIANT 153 153 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044829.
VARIANT 153 153 P -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_005899.
VARIANT 154 154 G -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044830.
VARIANT 154 154 G -> C (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044831.
VARIANT 154 154 G -> D (in sporadic cancers; somatic
mutation; dbSNP:rs762846821).
/FTId=VAR_044832.
VARIANT 154 154 G -> I (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045796.
VARIANT 154 154 G -> S (in sporadic cancers; somatic
mutation; dbSNP:rs137852789).
/FTId=VAR_044833.
VARIANT 154 154 G -> V (in a brain tumor with no family
history; germline mutation and in
sporadic cancers; somatic mutation).
{ECO:0000269|PubMed:2263646}.
/FTId=VAR_005900.
VARIANT 155 155 T -> A (in sporadic cancers; somatic
mutation; dbSNP:rs772683278).
{ECO:0000269|PubMed:1868473}.
/FTId=VAR_005901.
VARIANT 155 155 T -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044834.
VARIANT 155 155 T -> M (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044835.
VARIANT 155 155 T -> N (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_044836.
VARIANT 155 155 T -> P (in sporadic cancers; somatic
mutation; does not induce SNAI1
degradation).
{ECO:0000269|PubMed:14660794,
ECO:0000269|PubMed:20385133}.
/FTId=VAR_044837.
VARIANT 155 155 T -> S (in sporadic cancers; somatic
mutation; dbSNP:rs786202752).
/FTId=VAR_044838.
VARIANT 156 156 R -> C (in sporadic cancers; somatic
mutation; dbSNP:rs563378859).
/FTId=VAR_044839.
VARIANT 156 156 R -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044840.
VARIANT 156 156 R -> H (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs371524413).
/FTId=VAR_044841.
VARIANT 156 156 R -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044842.
VARIANT 156 156 R -> P (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:7682763}.
/FTId=VAR_005902.
VARIANT 156 156 R -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044843.
VARIANT 157 157 V -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044844.
VARIANT 157 157 V -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_005903.
VARIANT 157 157 V -> F (in sporadic cancers; somatic
mutation; dbSNP:rs121912654).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_005904.
VARIANT 157 157 V -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044845.
VARIANT 157 157 V -> I (in sporadic cancers; somatic
mutation; dbSNP:rs121912654).
{ECO:0000269|PubMed:9419979}.
/FTId=VAR_012977.
VARIANT 157 157 V -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044846.
VARIANT 158 158 R -> C (in sporadic cancers; somatic
mutation; dbSNP:rs587780068).
/FTId=VAR_005905.
VARIANT 158 158 R -> F (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045797.
VARIANT 158 158 R -> G (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_005906.
VARIANT 158 158 R -> H (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587782144).
/FTId=VAR_005907.
VARIANT 158 158 R -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044847.
VARIANT 158 158 R -> P (in sporadic cancers; somatic
mutation; dbSNP:rs587782144).
/FTId=VAR_044848.
VARIANT 158 158 R -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044849.
VARIANT 158 158 R -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044850.
VARIANT 158 158 R -> Y (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045798.
VARIANT 159 159 A -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044851.
VARIANT 159 159 A -> F (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions; dbSNP:rs730882022).
/FTId=VAR_045799.
VARIANT 159 159 A -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044852.
VARIANT 159 159 A -> P (in sporadic cancers; somatic
mutation; dbSNP:rs730882000).
/FTId=VAR_044853.
VARIANT 159 159 A -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044854.
VARIANT 159 159 A -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044855.
VARIANT 159 159 A -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044856.
VARIANT 160 161 MA -> IP (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047160.
VARIANT 160 161 MA -> IS (in sporadic cancers; somatic
mutation).
/FTId=VAR_047161.
VARIANT 160 161 MA -> IT (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047162.
VARIANT 160 160 M -> I (in sporadic cancers; somatic
mutation; dbSNP:rs772354334).
/FTId=VAR_005908.
VARIANT 160 160 M -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_044857.
VARIANT 160 160 M -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044858.
VARIANT 160 160 M -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044859.
VARIANT 161 161 A -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044860.
VARIANT 161 161 A -> F (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045800.
VARIANT 161 161 A -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044861.
VARIANT 161 161 A -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044862.
VARIANT 161 161 A -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_005909.
VARIANT 161 161 A -> T (in sporadic cancers; somatic
mutation; dbSNP:rs193920817).
/FTId=VAR_044863.
VARIANT 161 161 A -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044864.
VARIANT 162 162 I -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_044865.
VARIANT 162 162 I -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_044866.
VARIANT 162 162 I -> N (in a breast cancer with no family
history; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_044867.
VARIANT 162 162 I -> S (in sporadic cancers; somatic
mutation; dbSNP:rs587780069).
/FTId=VAR_005910.
VARIANT 162 162 I -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044868.
VARIANT 162 162 I -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_005911.
VARIANT 163 163 Y -> C (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs148924904).
{ECO:0000269|PubMed:16959974,
ECO:0000269|PubMed:17224074}.
/FTId=VAR_033035.
VARIANT 163 163 Y -> D (in sporadic cancers; somatic
mutation; dbSNP:rs786203436).
/FTId=VAR_044869.
VARIANT 163 163 Y -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044870.
VARIANT 163 163 Y -> H (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:17224074}.
/FTId=VAR_005912.
VARIANT 163 163 Y -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_044871.
VARIANT 163 163 Y -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044872.
VARIANT 164 164 K -> E (in sporadic cancers; somatic
mutation; dbSNP:rs879254249).
/FTId=VAR_044873.
VARIANT 164 164 K -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_044874.
VARIANT 164 164 K -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_005913.
VARIANT 164 164 K -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_005914.
VARIANT 164 164 K -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044875.
VARIANT 164 164 K -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044876.
VARIANT 165 165 Q -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_044877.
VARIANT 165 165 Q -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044878.
VARIANT 165 165 Q -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_005915.
VARIANT 165 165 Q -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044879.
VARIANT 165 165 Q -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_005916.
VARIANT 166 166 S -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044880.
VARIANT 166 166 S -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044881.
VARIANT 166 166 S -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_005917.
VARIANT 166 166 S -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044882.
VARIANT 166 166 S -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044883.
VARIANT 167 168 QH -> HD (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047163.
VARIANT 167 168 QH -> YL (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047164.
VARIANT 167 167 Q -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044884.
VARIANT 167 167 Q -> K (in LFS; germline mutation and in
a sporadic cancer; somatic mutation).
/FTId=VAR_044885.
VARIANT 167 167 Q -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044886.
VARIANT 167 167 Q -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044887.
VARIANT 168 169 HM -> LI (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047165.
VARIANT 168 168 H -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044888.
VARIANT 168 168 H -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044889.
VARIANT 168 168 H -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_044890.
VARIANT 168 168 H -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044891.
VARIANT 168 168 H -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_044892.
VARIANT 168 168 H -> R (in sporadic cancers; somatic
mutation; dbSNP:rs867114783).
/FTId=VAR_005918.
VARIANT 168 168 H -> V (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045801.
VARIANT 168 168 H -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_044893.
VARIANT 169 170 MT -> IS (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047166.
VARIANT 169 169 M -> I (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:9450901}.
/FTId=VAR_005919.
VARIANT 169 169 M -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_044894.
VARIANT 169 169 M -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_005920.
VARIANT 169 169 M -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044895.
VARIANT 170 170 T -> A (in sporadic cancers; somatic
mutation; dbSNP:rs587780729).
/FTId=VAR_044896.
VARIANT 170 170 T -> K (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044897.
VARIANT 170 170 T -> M (in sporadic cancers; somatic
mutation; dbSNP:rs779000871).
/FTId=VAR_005921.
VARIANT 170 170 T -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044898.
VARIANT 170 170 T -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_005922.
VARIANT 171 171 E -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044899.
VARIANT 171 171 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044900.
VARIANT 171 171 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044901.
VARIANT 171 171 E -> K (in sporadic cancers; somatic
mutation; dbSNP:rs587781845).
/FTId=VAR_044902.
VARIANT 171 171 E -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044903.
VARIANT 171 171 E -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044904.
VARIANT 172 172 V -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_005923.
VARIANT 172 172 V -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044905.
VARIANT 172 172 V -> F (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_044906.
VARIANT 172 172 V -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044907.
VARIANT 172 172 V -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044908.
VARIANT 173 173 V -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044909.
VARIANT 173 173 V -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_005924.
VARIANT 173 173 V -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044910.
VARIANT 173 173 V -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_005925.
VARIANT 173 173 V -> M (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs876660754).
/FTId=VAR_005926.
VARIANT 173 173 V -> W (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045802.
VARIANT 174 174 R -> G (in LFS; germline mutation and in
a sporadic cancer; somatic mutation;
dbSNP:rs864622115).
/FTId=VAR_044911.
VARIANT 174 174 R -> K (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:7682763}.
/FTId=VAR_005927.
VARIANT 174 174 R -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_044912.
VARIANT 174 174 R -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044913.
VARIANT 174 174 R -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044914.
VARIANT 174 174 R -> W (in sporadic cancers; somatic
mutation).
/FTId=VAR_044915.
VARIANT 175 175 R -> C (in sporadic cancers; somatic
mutation; dbSNP:rs138729528).
/FTId=VAR_005928.
VARIANT 175 175 R -> G (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs138729528).
/FTId=VAR_005929.
VARIANT 175 175 R -> H (in LFS; germline mutation and in
sporadic cancers; somatic mutation; does
not induce SNAI1 degradation; reduces
interaction with ZNF385A;
dbSNP:rs28934578).
{ECO:0000269|PubMed:16959974,
ECO:0000269|PubMed:17719541,
ECO:0000269|PubMed:1868473,
ECO:0000269|PubMed:20385133,
ECO:0000269|PubMed:7887414,
ECO:0000269|PubMed:8825920}.
/FTId=VAR_005932.
VARIANT 175 175 R -> L (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934578).
/FTId=VAR_005930.
VARIANT 175 175 R -> P (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:17719541}.
/FTId=VAR_005931.
VARIANT 175 175 R -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044916.
VARIANT 175 175 R -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044917.
VARIANT 176 177 CP -> FS (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047167.
VARIANT 176 176 C -> F (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:1394225,
ECO:0000269|PubMed:1868473,
ECO:0000269|PubMed:8829627,
ECO:0000269|PubMed:9450901}.
/FTId=VAR_005933.
VARIANT 176 176 C -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044918.
VARIANT 176 176 C -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044919.
VARIANT 176 176 C -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044920.
VARIANT 176 176 C -> W (in sporadic cancers; somatic
mutation).
/FTId=VAR_005934.
VARIANT 176 176 C -> Y (in sporadic cancers; somatic
mutation; dbSNP:rs786202962).
/FTId=VAR_044921.
VARIANT 177 177 P -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044922.
VARIANT 177 177 P -> F (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045803.
VARIANT 177 177 P -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044923.
VARIANT 177 177 P -> I (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045804.
VARIANT 177 177 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_005935.
VARIANT 177 177 P -> R (in sporadic cancers; somatic
mutation; dbSNP:rs751477326).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036505.
VARIANT 177 177 P -> S (in sporadic cancers; somatic
mutation; dbSNP:rs147002414).
/FTId=VAR_044924.
VARIANT 177 177 P -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044925.
VARIANT 178 179 HH -> QS (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047168.
VARIANT 178 178 H -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044926.
VARIANT 178 178 H -> HPHP (in a Burkitt lymphoma).
{ECO:0000269|PubMed:1303181}.
/FTId=VAR_005936.
VARIANT 178 178 H -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044927.
VARIANT 178 178 H -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_044928.
VARIANT 178 178 H -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044929.
VARIANT 178 178 H -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_044930.
VARIANT 178 178 H -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044931.
VARIANT 178 178 H -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_044932.
VARIANT 179 179 H -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044933.
VARIANT 179 179 H -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044934.
VARIANT 179 179 H -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_044935.
VARIANT 179 179 H -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044936.
VARIANT 179 179 H -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_044937.
VARIANT 179 179 H -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044938.
VARIANT 179 179 H -> Y (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587780070).
/FTId=VAR_044939.
VARIANT 180 180 E -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044940.
VARIANT 180 180 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044941.
VARIANT 180 180 E -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044942.
VARIANT 180 180 E -> K (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs879253911).
/FTId=VAR_044943.
VARIANT 180 180 E -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_044944.
VARIANT 180 180 E -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044945.
VARIANT 181 181 R -> C (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587782596).
/FTId=VAR_044946.
VARIANT 181 181 R -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044947.
VARIANT 181 181 R -> H (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs397514495).
/FTId=VAR_044948.
VARIANT 181 181 R -> L (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation;
dbSNP:rs397514495).
/FTId=VAR_005937.
VARIANT 181 181 R -> P (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation).
/FTId=VAR_044949.
VARIANT 181 181 R -> S (in sporadic cancers; somatic
mutation; dbSNP:rs587782596).
/FTId=VAR_044950.
VARIANT 182 182 C -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044951.
VARIANT 182 182 C -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_005938.
VARIANT 182 182 C -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_044952.
VARIANT 183 183 S -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044953.
VARIANT 183 183 S -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044954.
VARIANT 184 184 D -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044955.
VARIANT 184 184 D -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044956.
VARIANT 184 184 D -> N (in sporadic cancers; somatic
mutation; dbSNP:rs72661117).
/FTId=VAR_047169.
VARIANT 184 184 D -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044957.
VARIANT 184 184 D -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_005939.
VARIANT 185 185 S -> C (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044958.
VARIANT 185 185 S -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044959.
VARIANT 185 185 S -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044960.
VARIANT 185 185 S -> N (in a sporadic cancer; somatic
mutation; dbSNP:rs150607408).
/FTId=VAR_044961.
VARIANT 185 185 S -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044962.
VARIANT 185 185 S -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044963.
VARIANT 186 186 D -> E (in a sporadic cancer; somatic
mutation; dbSNP:rs375275361).
/FTId=VAR_044964.
VARIANT 186 186 D -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044965.
VARIANT 186 186 D -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044966.
VARIANT 186 186 D -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_044967.
VARIANT 186 186 D -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044968.
VARIANT 186 186 D -> Y (in a sporadic cancer; somatic
mutation).
/FTId=VAR_005940.
VARIANT 187 187 G -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_005941.
VARIANT 187 187 G -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_044969.
VARIANT 187 187 G -> N (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045805.
VARIANT 187 187 G -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_044970.
VARIANT 187 187 G -> S (in sporadic cancers; somatic
mutation; dbSNP:rs776167460).
/FTId=VAR_005942.
VARIANT 187 187 G -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044971.
VARIANT 188 188 L -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044972.
VARIANT 188 188 L -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_044973.
VARIANT 189 189 A -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044974.
VARIANT 189 189 A -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_044975.
VARIANT 189 189 A -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_005943.
VARIANT 189 189 A -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044976.
VARIANT 189 189 A -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_044977.
VARIANT 189 189 A -> V (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation;
dbSNP:rs121912665).
/FTId=VAR_044978.
VARIANT 190 190 P -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_044979.
VARIANT 190 190 P -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044980.
VARIANT 190 190 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_005944.
VARIANT 190 190 P -> R (in sporadic cancers; somatic
mutation; dbSNP:rs876660825).
/FTId=VAR_044981.
VARIANT 190 190 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_044982.
VARIANT 190 190 P -> T (in sporadic cancers; somatic
mutation; dbSNP:rs876660254).
/FTId=VAR_044983.
VARIANT 191 191 P -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044984.
VARIANT 191 191 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044985.
VARIANT 191 191 P -> R (in sporadic cancers; somatic
mutation; dbSNP:rs587778718).
/FTId=VAR_044986.
VARIANT 191 191 P -> S (in sporadic cancers; somatic
mutation; dbSNP:rs868590738).
/FTId=VAR_044987.
VARIANT 191 191 P -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_005945.
VARIANT 192 193 QH -> HN (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047170.
VARIANT 192 193 QH -> HY (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047171.
VARIANT 192 192 Q -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044988.
VARIANT 192 192 Q -> K (in a sporadic cancer; somatic
mutation).
/FTId=VAR_044989.
VARIANT 192 192 Q -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_044990.
VARIANT 192 192 Q -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044991.
VARIANT 192 192 Q -> R (in sporadic cancers; somatic
mutation; dbSNP:rs730882002).
/FTId=VAR_005946.
VARIANT 193 193 H -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_005947.
VARIANT 193 193 H -> L (in sporadic cancers; somatic
mutation; dbSNP:rs786201838).
/FTId=VAR_044992.
VARIANT 193 193 H -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_044993.
VARIANT 193 193 H -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_044994.
VARIANT 193 193 H -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_044995.
VARIANT 193 193 H -> R (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs786201838).
{ECO:0000269|PubMed:16959974,
ECO:0000269|PubMed:7887414}.
/FTId=VAR_005948.
VARIANT 193 193 H -> Y (in sporadic cancers; somatic
mutation; dbSNP:rs876658468).
/FTId=VAR_044996.
VARIANT 194 194 L -> F (in sporadic cancers; somatic
mutation; dbSNP:rs587780071).
/FTId=VAR_044997.
VARIANT 194 194 L -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_044998.
VARIANT 194 194 L -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_044999.
VARIANT 194 194 L -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_005949.
VARIANT 194 194 L -> R (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:7682763}.
/FTId=VAR_005950.
VARIANT 194 194 L -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045000.
VARIANT 195 195 I -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_045001.
VARIANT 195 195 I -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047172.
VARIANT 195 195 I -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045002.
VARIANT 195 195 I -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045003.
VARIANT 195 195 I -> T (in sporadic cancers; somatic
mutation; dbSNP:rs760043106).
{ECO:0000269|PubMed:17224074,
ECO:0000269|PubMed:9450901}.
/FTId=VAR_005951.
VARIANT 195 195 I -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045004.
VARIANT 195 195 I -> Y (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045806.
VARIANT 196 196 R -> G (in sporadic cancers; somatic
mutation; dbSNP:rs397516435).
/FTId=VAR_045005.
VARIANT 196 196 R -> L (in sporadic cancers; somatic
mutation; dbSNP:rs483352697).
/FTId=VAR_045006.
VARIANT 196 196 R -> P (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs483352697).
/FTId=VAR_045007.
VARIANT 196 196 R -> Q (in sporadic cancers; somatic
mutation; dbSNP:rs483352697).
/FTId=VAR_045008.
VARIANT 196 196 R -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045009.
VARIANT 197 197 V -> E (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation).
/FTId=VAR_045010.
VARIANT 197 197 V -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045011.
VARIANT 197 197 V -> L (in sporadic cancers; somatic
mutation; dbSNP:rs786204041).
/FTId=VAR_045012.
VARIANT 197 197 V -> M (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs786204041).
/FTId=VAR_045013.
VARIANT 198 198 E -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045014.
VARIANT 198 198 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045015.
VARIANT 198 198 E -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_005952.
VARIANT 198 198 E -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045016.
VARIANT 198 198 E -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045017.
VARIANT 199 199 G -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045018.
VARIANT 199 199 G -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045019.
VARIANT 199 199 G -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045020.
VARIANT 199 199 G -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045021.
VARIANT 200 200 N -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045022.
VARIANT 200 200 N -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045023.
VARIANT 200 200 N -> K (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045024.
VARIANT 200 200 N -> P (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045807.
VARIANT 200 200 N -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045025.
VARIANT 200 200 N -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045026.
VARIANT 201 202 LR -> FC (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047173.
VARIANT 201 201 L -> F (in sporadic cancers; somatic
mutation; dbSNP:rs730882024).
/FTId=VAR_045027.
VARIANT 201 201 L -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045028.
VARIANT 201 201 L -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045029.
VARIANT 202 202 R -> C (in sporadic cancers; somatic
mutation; dbSNP:rs587780072).
/FTId=VAR_045030.
VARIANT 202 202 R -> G (in sporadic cancers; somatic
mutation; dbSNP:rs587780072).
/FTId=VAR_045031.
VARIANT 202 202 R -> H (in sporadic cancers; somatic
mutation; dbSNP:rs587778719).
/FTId=VAR_045032.
VARIANT 202 202 R -> L (in sporadic cancers; somatic
mutation; dbSNP:rs587778719).
/FTId=VAR_045033.
VARIANT 202 202 R -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045034.
VARIANT 202 202 R -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045035.
VARIANT 203 204 VE -> LV (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047174.
VARIANT 203 203 V -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045036.
VARIANT 203 203 V -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045037.
VARIANT 203 203 V -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045038.
VARIANT 203 203 V -> M (in sporadic cancers; somatic
mutation; dbSNP:rs730882003).
/FTId=VAR_045039.
VARIANT 203 203 V -> W (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045808.
VARIANT 204 204 E -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045040.
VARIANT 204 204 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045041.
VARIANT 204 204 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045042.
VARIANT 204 204 E -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_045043.
VARIANT 204 204 E -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045044.
VARIANT 204 204 E -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045045.
VARIANT 205 205 Y -> C (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:1459726}.
/FTId=VAR_005953.
VARIANT 205 205 Y -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_005954.
VARIANT 205 205 Y -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_047175.
VARIANT 205 205 Y -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045046.
VARIANT 205 205 Y -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045047.
VARIANT 205 205 Y -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045048.
VARIANT 206 206 L -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045049.
VARIANT 206 206 L -> M (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045050.
VARIANT 207 208 DD -> EY (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047176.
VARIANT 207 207 D -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045051.
VARIANT 207 207 D -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045052.
VARIANT 207 207 D -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045053.
VARIANT 207 207 D -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045054.
VARIANT 207 207 D -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045055.
VARIANT 207 207 D -> Y (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045056.
VARIANT 208 208 D -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045057.
VARIANT 208 208 D -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045058.
VARIANT 208 208 D -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045059.
VARIANT 208 208 D -> I (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045809.
VARIANT 208 208 D -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045060.
VARIANT 208 208 D -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045061.
VARIANT 208 208 D -> Y (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045062.
VARIANT 209 209 R -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045063.
VARIANT 209 209 R -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_045064.
VARIANT 209 209 R -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045065.
VARIANT 209 209 R -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045066.
VARIANT 210 210 N -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045067.
VARIANT 210 210 N -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045068.
VARIANT 210 210 N -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045069.
VARIANT 210 210 N -> K (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045070.
VARIANT 210 210 N -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045071.
VARIANT 210 210 N -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045072.
VARIANT 210 210 N -> Y (in a familial cancer not matching
LFS; germline mutation).
/FTId=VAR_045073.
VARIANT 211 211 T -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045074.
VARIANT 211 211 T -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045075.
VARIANT 211 211 T -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045076.
VARIANT 211 211 T -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045077.
VARIANT 211 211 T -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045078.
VARIANT 212 212 F -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045079.
VARIANT 212 212 F -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045080.
VARIANT 212 212 F -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045081.
VARIANT 212 212 F -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045082.
VARIANT 212 212 F -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045083.
VARIANT 213 213 R -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045084.
VARIANT 213 213 R -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045085.
VARIANT 213 213 R -> P (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587778720).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036506.
VARIANT 213 213 R -> Q (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587778720).
/FTId=VAR_005955.
VARIANT 213 213 R -> W (in sporadic cancers; somatic
mutation).
/FTId=VAR_045086.
VARIANT 214 214 H -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045087.
VARIANT 214 214 H -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045088.
VARIANT 214 214 H -> Q (in sporadic cancers; somatic
mutation; dbSNP:rs587781386).
/FTId=VAR_047177.
VARIANT 214 214 H -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045089.
VARIANT 214 214 H -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045090.
VARIANT 215 215 S -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_045091.
VARIANT 215 215 S -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045092.
VARIANT 215 215 S -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045093.
VARIANT 215 215 S -> K (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045810.
VARIANT 215 215 S -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045094.
VARIANT 215 215 S -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045095.
VARIANT 215 215 S -> T (in sporadic cancers; somatic
mutation; dbSNP:rs587782177).
/FTId=VAR_045096.
VARIANT 216 216 V -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045097.
VARIANT 216 216 V -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045098.
VARIANT 216 216 V -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045099.
VARIANT 216 216 V -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045100.
VARIANT 216 216 V -> M (in sporadic cancers; somatic
mutation; dbSNP:rs730882025).
{ECO:0000269|PubMed:17224074}.
/FTId=VAR_005956.
VARIANT 216 216 V -> W (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045811.
VARIANT 217 217 V -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045101.
VARIANT 217 217 V -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045102.
VARIANT 217 217 V -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045103.
VARIANT 217 217 V -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045104.
VARIANT 217 217 V -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045105.
VARIANT 217 217 V -> M (in dbSNP:rs35163653).
/FTId=VAR_047178.
VARIANT 218 218 V -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045106.
VARIANT 218 218 V -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045107.
VARIANT 218 218 V -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045108.
VARIANT 218 218 V -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045109.
VARIANT 218 218 V -> M (in sporadic cancers; somatic
mutation; dbSNP:rs878854072).
/FTId=VAR_045110.
VARIANT 219 219 P -> C (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045812.
VARIANT 219 219 P -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045111.
VARIANT 219 219 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045112.
VARIANT 219 219 P -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045113.
VARIANT 219 219 P -> S (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation;
dbSNP:rs879253894).
/FTId=VAR_045114.
VARIANT 219 219 P -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045115.
VARIANT 220 220 Y -> C (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs121912666).
{ECO:0000269|PubMed:7682763,
ECO:0000269|PubMed:9450901}.
/FTId=VAR_005957.
VARIANT 220 220 Y -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045116.
VARIANT 220 220 Y -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045117.
VARIANT 220 220 Y -> H (in sporadic cancers; somatic
mutation; dbSNP:rs530941076).
/FTId=VAR_005958.
VARIANT 220 220 Y -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045118.
VARIANT 220 220 Y -> S (in a brain tumor with no family
history; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs121912666).
/FTId=VAR_005959.
VARIANT 221 221 E -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045119.
VARIANT 221 221 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045120.
VARIANT 221 221 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045121.
VARIANT 221 221 E -> K (in sporadic cancers; somatic
mutation; dbSNP:rs786201592).
/FTId=VAR_045122.
VARIANT 221 221 E -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045123.
VARIANT 222 222 P -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045124.
VARIANT 222 222 P -> L (in sporadic cancers; somatic
mutation; dbSNP:rs146340390).
/FTId=VAR_045125.
VARIANT 222 222 P -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045126.
VARIANT 222 222 P -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045127.
VARIANT 222 222 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045128.
VARIANT 222 222 P -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045129.
VARIANT 223 223 P -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047179.
VARIANT 223 223 P -> H (in sporadic cancers; somatic
mutation; dbSNP:rs138983188).
/FTId=VAR_045130.
VARIANT 223 223 P -> L (in sporadic cancers; somatic
mutation; dbSNP:rs138983188).
/FTId=VAR_045131.
VARIANT 223 223 P -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045132.
VARIANT 223 223 P -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045133.
VARIANT 223 223 P -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045134.
VARIANT 224 224 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045135.
VARIANT 224 224 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045136.
VARIANT 224 224 E -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_045137.
VARIANT 224 224 E -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045138.
VARIANT 225 225 V -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045139.
VARIANT 225 225 V -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045140.
VARIANT 225 225 V -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_045141.
VARIANT 225 225 V -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045142.
VARIANT 225 225 V -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045143.
VARIANT 225 225 V -> L (in a sporadic cancer; somatic
mutation; dbSNP:rs746504075).
/FTId=VAR_045144.
VARIANT 226 226 G -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045145.
VARIANT 226 226 G -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_047180.
VARIANT 226 226 G -> N (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045844.
VARIANT 226 226 G -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045146.
VARIANT 226 226 G -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045147.
VARIANT 227 227 S -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_045148.
VARIANT 227 227 S -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_045149.
VARIANT 227 227 S -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045150.
VARIANT 227 227 S -> T (in LFS; germline mutation and in
a sporadic cancer; somatic mutation).
/FTId=VAR_045151.
VARIANT 228 228 D -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045152.
VARIANT 228 228 D -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_005960.
VARIANT 228 228 D -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045153.
VARIANT 228 228 D -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045154.
VARIANT 228 228 D -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045155.
VARIANT 228 228 D -> P (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045845.
VARIANT 228 228 D -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045156.
VARIANT 228 228 D -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045157.
VARIANT 229 229 C -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045158.
VARIANT 229 229 C -> N (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045846.
VARIANT 229 229 C -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045159.
VARIANT 229 229 C -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045160.
VARIANT 229 229 C -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045161.
VARIANT 230 230 T -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045162.
VARIANT 230 230 T -> I (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:9450901}.
/FTId=VAR_005961.
VARIANT 230 230 T -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045163.
VARIANT 230 230 T -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045164.
VARIANT 230 230 T -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045165.
VARIANT 231 231 T -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045166.
VARIANT 231 231 T -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045167.
VARIANT 231 231 T -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045168.
VARIANT 231 231 T -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045169.
VARIANT 232 232 I -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_045170.
VARIANT 232 232 I -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045171.
VARIANT 232 232 I -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045172.
VARIANT 232 232 I -> S (in sporadic cancers; somatic
mutation; does not induce SNAI1
degradation).
{ECO:0000269|PubMed:20385133}.
/FTId=VAR_045173.
VARIANT 232 232 I -> T (in sporadic cancers; somatic
mutation; dbSNP:rs587781589).
/FTId=VAR_005962.
VARIANT 232 232 I -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045174.
VARIANT 233 233 H -> D (in LFS; germline mutation and in
a sporadic cancer; somatic mutation).
/FTId=VAR_045175.
VARIANT 233 233 H -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045176.
VARIANT 233 233 H -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045177.
VARIANT 233 233 H -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045178.
VARIANT 233 233 H -> R (in sporadic cancers; somatic
mutation; dbSNP:rs879254233).
/FTId=VAR_047181.
VARIANT 233 233 H -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045179.
VARIANT 234 234 Y -> C (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587780073).
/FTId=VAR_005963.
VARIANT 234 234 Y -> D (in sporadic cancers; somatic
mutation; dbSNP:rs864622237).
/FTId=VAR_045180.
VARIANT 234 234 Y -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045181.
VARIANT 234 234 Y -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_005964.
VARIANT 234 234 Y -> K (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045847.
VARIANT 234 234 Y -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045182.
VARIANT 234 234 Y -> Q (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045848.
VARIANT 234 234 Y -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045183.
VARIANT 235 235 N -> D (in an adrenocortical carcinoma
with no family history; germline mutation
and in sporadic cancers; somatic
mutation).
/FTId=VAR_047182.
VARIANT 235 235 N -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045184.
VARIANT 235 235 N -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045185.
VARIANT 235 235 N -> M (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045849.
VARIANT 235 235 N -> S (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs144340710).
/FTId=VAR_045186.
VARIANT 235 235 N -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045187.
VARIANT 235 235 N -> Y (in sporadic cancers; somatic
mutation; dbSNP:rs786204145).
/FTId=VAR_045188.
VARIANT 236 236 Y -> C (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_045189.
VARIANT 236 236 Y -> D (in sporadic cancers; somatic
mutation; dbSNP:rs587782289).
/FTId=VAR_045190.
VARIANT 236 236 Y -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045191.
VARIANT 236 236 Y -> H (in sporadic cancers; somatic
mutation; dbSNP:rs587782289).
/FTId=VAR_045192.
VARIANT 236 236 Y -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045193.
VARIANT 236 236 Y -> S (in sporadic cancers; somatic
mutation; dbSNP:rs730882026).
/FTId=VAR_045194.
VARIANT 237 237 M -> I (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587782664).
/FTId=VAR_005965.
VARIANT 237 237 M -> K (in sporadic cancers; somatic
mutation; dbSNP:rs765848205).
/FTId=VAR_045195.
VARIANT 237 237 M -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045196.
VARIANT 237 237 M -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045197.
VARIANT 237 237 M -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045198.
VARIANT 237 237 M -> V (in sporadic cancers; somatic
mutation; dbSNP:rs730882004).
/FTId=VAR_045199.
VARIANT 238 238 C -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_005966.
VARIANT 238 238 C -> G (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_045200.
VARIANT 238 238 C -> H (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045850.
VARIANT 238 238 C -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045201.
VARIANT 238 238 C -> S (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_045202.
VARIANT 238 238 C -> W (in sporadic cancers; somatic
mutation; dbSNP:rs193920789).
/FTId=VAR_045203.
VARIANT 238 238 C -> Y (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation;
dbSNP:rs730882005).
/FTId=VAR_005967.
VARIANT 239 239 N -> D (in sporadic cancers; somatic
mutation; dbSNP:rs876660807).
/FTId=VAR_045204.
VARIANT 239 239 N -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045205.
VARIANT 239 239 N -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045206.
VARIANT 239 239 N -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_045207.
VARIANT 239 239 N -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045208.
VARIANT 239 239 N -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045209.
VARIANT 239 239 N -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045210.
VARIANT 240 240 S -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_045211.
VARIANT 240 240 S -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045212.
VARIANT 240 240 S -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_005968.
VARIANT 240 240 S -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045213.
VARIANT 240 240 S -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045214.
VARIANT 240 240 S -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045215.
VARIANT 240 240 S -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045216.
VARIANT 241 241 S -> A (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:17224074}.
/FTId=VAR_033036.
VARIANT 241 241 S -> C (in sporadic cancers; somatic
mutation; dbSNP:rs28934573).
/FTId=VAR_045217.
VARIANT 241 241 S -> F (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934573).
{ECO:0000269|PubMed:16959974,
ECO:0000269|PubMed:1699228}.
/FTId=VAR_005969.
VARIANT 241 241 S -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045218.
VARIANT 241 241 S -> T (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_047183.
VARIANT 241 241 S -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045219.
VARIANT 242 242 C -> F (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:1394225,
ECO:0000269|PubMed:16959974}.
/FTId=VAR_005970.
VARIANT 242 242 C -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045220.
VARIANT 242 242 C -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045221.
VARIANT 242 242 C -> S (in sporadic cancers; somatic
mutation; dbSNP:rs121912655).
/FTId=VAR_045222.
VARIANT 242 242 C -> W (in sporadic cancers; somatic
mutation).
/FTId=VAR_045223.
VARIANT 242 242 C -> Y (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation;
dbSNP:rs121912655).
/FTId=VAR_045224.
VARIANT 243 244 MG -> IC (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047184.
VARIANT 243 244 MG -> IS (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047185.
VARIANT 243 243 M -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045225.
VARIANT 243 243 M -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_045226.
VARIANT 243 243 M -> L (in sporadic cancers; somatic
mutation; dbSNP:rs786203117).
/FTId=VAR_045227.
VARIANT 243 243 M -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045228.
VARIANT 243 243 M -> T (in sporadic cancers; somatic
mutation; dbSNP:rs730882006).
/FTId=VAR_045229.
VARIANT 243 243 M -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045230.
VARIANT 244 244 G -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_047186.
VARIANT 244 244 G -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_045231.
VARIANT 244 244 G -> D (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_045232.
VARIANT 244 244 G -> E (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045233.
VARIANT 244 244 G -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045234.
VARIANT 244 244 G -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045235.
VARIANT 244 244 G -> V (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_045236.
VARIANT 245 245 G -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_005971.
VARIANT 245 245 G -> C (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934575).
{ECO:0000269|PubMed:1394225,
ECO:0000269|PubMed:1978757}.
/FTId=VAR_005972.
VARIANT 245 245 G -> D (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs121912656).
{ECO:0000269|PubMed:2259385}.
/FTId=VAR_005973.
VARIANT 245 245 G -> E (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045237.
VARIANT 245 245 G -> F (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045851.
VARIANT 245 245 G -> H (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045852.
VARIANT 245 245 G -> L (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045853.
VARIANT 245 245 G -> N (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045854.
VARIANT 245 245 G -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045238.
VARIANT 245 245 G -> S (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934575).
{ECO:0000269|PubMed:8829627}.
/FTId=VAR_005974.
VARIANT 245 245 G -> V (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs121912656).
{ECO:0000269|PubMed:2263646}.
/FTId=VAR_005975.
VARIANT 246 246 M -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045239.
VARIANT 246 246 M -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_045240.
VARIANT 246 246 M -> L (in sporadic cancers; somatic
mutation; dbSNP:rs483352695).
/FTId=VAR_044020.
VARIANT 246 246 M -> R (in sporadic cancers; somatic
mutation; dbSNP:rs587780074).
/FTId=VAR_005976.
VARIANT 246 246 M -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_005977.
VARIANT 246 246 M -> V (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs483352695).
/FTId=VAR_005978.
VARIANT 247 248 NR -> IP (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047187.
VARIANT 247 248 NR -> KW (in sporadic cancers; somatic
mutation).
/FTId=VAR_047188.
VARIANT 247 247 N -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045241.
VARIANT 247 247 N -> F (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045855.
VARIANT 247 247 N -> I (in sporadic cancers; somatic
mutation; dbSNP:rs786201762).
/FTId=VAR_005980.
VARIANT 247 247 N -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_045242.
VARIANT 247 247 N -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045243.
VARIANT 247 247 N -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_047189.
VARIANT 247 247 N -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045244.
VARIANT 248 248 R -> C (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045245.
VARIANT 248 248 R -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_005981.
VARIANT 248 248 R -> L (in sporadic cancers; somatic
mutation; dbSNP:rs11540652).
{ECO:0000269|PubMed:1394225,
ECO:0000269|PubMed:7682763}.
/FTId=VAR_005982.
VARIANT 248 248 R -> P (in sporadic cancers; somatic
mutation; dbSNP:rs11540652).
/FTId=VAR_045246.
VARIANT 248 248 R -> Q (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs11540652).
{ECO:0000269|PubMed:16959974,
ECO:0000269|PubMed:2263646,
ECO:0000269|PubMed:7682763,
ECO:0000269|PubMed:7887414}.
/FTId=VAR_005983.
VARIANT 248 248 R -> W (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs121912651).
{ECO:0000269|PubMed:16959974,
ECO:0000269|PubMed:1978757,
ECO:0000269|PubMed:8829627}.
/FTId=VAR_005984.
VARIANT 249 250 RP -> SA (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047190.
VARIANT 249 250 RP -> SS (in sporadic cancers; somatic
mutation).
/FTId=VAR_047191.
VARIANT 249 249 R -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_005985.
VARIANT 249 249 R -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045247.
VARIANT 249 249 R -> K (in sporadic cancers; somatic
mutation; dbSNP:rs587782329).
/FTId=VAR_045248.
VARIANT 249 249 R -> M (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:17224074}.
/FTId=VAR_033037.
VARIANT 249 249 R -> N (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045856.
VARIANT 249 249 R -> S (in sporadic cancers; somatic
mutation; does not induce SNAI1
degradation; dbSNP:rs28934571).
{ECO:0000269|PubMed:1694291,
ECO:0000269|PubMed:16959974,
ECO:0000269|PubMed:20385133}.
/FTId=VAR_005986.
VARIANT 249 249 R -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045249.
VARIANT 249 249 R -> W (in sporadic cancers; somatic
mutation; dbSNP:rs587782082).
/FTId=VAR_045250.
VARIANT 250 250 P -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045251.
VARIANT 250 250 P -> F (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045857.
VARIANT 250 250 P -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045252.
VARIANT 250 250 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_047192.
VARIANT 250 250 P -> N (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045858.
VARIANT 250 250 P -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045253.
VARIANT 250 250 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045254.
VARIANT 250 250 P -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045255.
VARIANT 251 251 I -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_045256.
VARIANT 251 251 I -> L (in sporadic cancers; somatic
mutation; dbSNP:rs730882007).
/FTId=VAR_045257.
VARIANT 251 251 I -> M (in LFS; germline mutation).
/FTId=VAR_045258.
VARIANT 251 251 I -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_005987.
VARIANT 251 251 I -> S (in sporadic cancers; somatic
mutation; dbSNP:rs730882027).
{ECO:0000269|PubMed:17224074}.
/FTId=VAR_033038.
VARIANT 251 251 I -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045259.
VARIANT 251 251 I -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045260.
VARIANT 252 252 L -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_045261.
VARIANT 252 252 L -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045262.
VARIANT 252 252 L -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045263.
VARIANT 252 252 L -> P (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs121912653).
{ECO:0000269|PubMed:1978757}.
/FTId=VAR_005988.
VARIANT 252 252 L -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045264.
VARIANT 253 253 T -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045265.
VARIANT 253 253 T -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045266.
VARIANT 253 253 T -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045267.
VARIANT 253 253 T -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_047193.
VARIANT 253 253 T -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045268.
VARIANT 254 254 I -> D (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045859.
VARIANT 254 254 I -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045269.
VARIANT 254 254 I -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045270.
VARIANT 254 254 I -> M (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045271.
VARIANT 254 254 I -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_017908.
VARIANT 254 254 I -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045272.
VARIANT 254 254 I -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_017909.
VARIANT 254 254 I -> V (in sporadic cancers; somatic
mutation; dbSNP:rs746601313).
/FTId=VAR_045273.
VARIANT 255 255 I -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_045274.
VARIANT 255 255 I -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_045275.
VARIANT 255 255 I -> N (in sporadic cancers; somatic
mutation; dbSNP:rs876659675).
/FTId=VAR_045276.
VARIANT 255 255 I -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045277.
VARIANT 255 255 I -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045278.
VARIANT 255 255 I -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045279.
VARIANT 256 256 T -> I (in a brain tumor with no family
history; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_045280.
VARIANT 256 256 T -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_045281.
VARIANT 256 256 T -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045282.
VARIANT 256 256 T -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045283.
VARIANT 257 257 L -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_005989.
VARIANT 257 257 L -> Q (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934577).
/FTId=VAR_045284.
VARIANT 257 257 L -> R (in sporadic cancers; somatic
mutation; dbSNP:rs28934577).
/FTId=VAR_045285.
VARIANT 257 257 L -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045286.
VARIANT 258 258 E -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045287.
VARIANT 258 258 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_005990.
VARIANT 258 258 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045288.
VARIANT 258 258 E -> K (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs121912652).
{ECO:0000269|PubMed:1978757}.
/FTId=VAR_005991.
VARIANT 258 258 E -> L (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045860.
VARIANT 258 258 E -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045289.
VARIANT 258 258 E -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045290.
VARIANT 259 259 D -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047194.
VARIANT 259 259 D -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045291.
VARIANT 259 259 D -> G (in sporadic cancers; somatic
mutation; dbSNP:rs745425759).
/FTId=VAR_045292.
VARIANT 259 259 D -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045293.
VARIANT 259 259 D -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045294.
VARIANT 259 259 D -> P (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045861.
VARIANT 259 259 D -> S (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045862.
VARIANT 259 259 D -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045295.
VARIANT 259 259 D -> Y (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:17224074}.
/FTId=VAR_033039.
VARIANT 260 260 S -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045296.
VARIANT 260 260 S -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_045297.
VARIANT 260 260 S -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_045298.
VARIANT 260 260 S -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045299.
VARIANT 260 260 S -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045300.
VARIANT 260 260 S -> Y (in sporadic cancers; somatic
mutation; dbSNP:rs876658916).
/FTId=VAR_045301.
VARIANT 261 261 S -> C (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045302.
VARIANT 261 261 S -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045303.
VARIANT 261 261 S -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045304.
VARIANT 261 261 S -> N (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045305.
VARIANT 261 261 S -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045306.
VARIANT 262 263 GN -> PD (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047195.
VARIANT 262 262 G -> C (in a sporadic cancer; somatic
mutation; dbSNP:rs200579969).
/FTId=VAR_045307.
VARIANT 262 262 G -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_047196.
VARIANT 262 262 G -> H (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045863.
VARIANT 262 262 G -> S (in sporadic cancers; somatic
mutation; dbSNP:rs200579969).
/FTId=VAR_045308.
VARIANT 262 262 G -> V (in sporadic cancers; somatic
mutation). {ECO:0000269|Ref.23}.
/FTId=VAR_045309.
VARIANT 263 263 N -> D (in sporadic cancers; somatic
mutation; dbSNP:rs72661119).
/FTId=VAR_045310.
VARIANT 263 263 N -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045311.
VARIANT 263 263 N -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045312.
VARIANT 263 263 N -> K (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045313.
VARIANT 263 263 N -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045314.
VARIANT 264 264 L -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045315.
VARIANT 264 264 L -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045316.
VARIANT 264 264 L -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045317.
VARIANT 264 264 L -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045318.
VARIANT 264 264 L -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045319.
VARIANT 265 265 L -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_045320.
VARIANT 265 265 L -> P (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs879253942).
/FTId=VAR_045321.
VARIANT 265 265 L -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045322.
VARIANT 265 265 L -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_047197.
VARIANT 266 266 G -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045323.
VARIANT 266 266 G -> E (in sporadic cancers; somatic
mutation; dbSNP:rs193920774).
/FTId=VAR_045324.
VARIANT 266 266 G -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045325.
VARIANT 266 266 G -> V (in sporadic cancers; somatic
mutation; dbSNP:rs193920774).
/FTId=VAR_045326.
VARIANT 267 267 R -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045327.
VARIANT 267 267 R -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045328.
VARIANT 267 267 R -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045329.
VARIANT 267 267 R -> Q (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587780075).
/FTId=VAR_045330.
VARIANT 267 267 R -> W (in sporadic cancers; somatic
mutation; dbSNP:rs55832599).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036507.
VARIANT 268 268 N -> F (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045864.
VARIANT 268 268 N -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045331.
VARIANT 268 268 N -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045332.
VARIANT 268 268 N -> K (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045333.
VARIANT 268 268 N -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045334.
VARIANT 268 268 N -> Y (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045335.
VARIANT 269 269 S -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_045336.
VARIANT 269 269 S -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045337.
VARIANT 269 269 S -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047198.
VARIANT 269 269 S -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045338.
VARIANT 269 269 S -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045339.
VARIANT 269 269 S -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045340.
VARIANT 270 270 F -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_045341.
VARIANT 270 270 F -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045342.
VARIANT 270 270 F -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045343.
VARIANT 270 270 F -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045344.
VARIANT 270 270 F -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045345.
VARIANT 270 270 F -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045346.
VARIANT 271 271 E -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045347.
VARIANT 271 271 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045348.
VARIANT 271 271 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045349.
VARIANT 271 271 E -> K (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:16959974}.
/FTId=VAR_036508.
VARIANT 271 271 E -> P (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045865.
VARIANT 271 271 E -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045350.
VARIANT 271 271 E -> R (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045866.
VARIANT 271 271 E -> V (in an osteosarcoma with no family
history; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_047199.
VARIANT 272 272 V -> A (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation).
/FTId=VAR_045351.
VARIANT 272 272 V -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045352.
VARIANT 272 272 V -> G (in sporadic cancers; somatic
mutation; dbSNP:rs876660333).
/FTId=VAR_045353.
VARIANT 272 272 V -> L (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs121912657).
{ECO:0000269|PubMed:1737852}.
/FTId=VAR_005992.
VARIANT 272 272 V -> M (in sporadic cancers; somatic
mutation; dbSNP:rs121912657).
/FTId=VAR_045354.
VARIANT 273 273 R -> C (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs121913343).
{ECO:0000269|PubMed:16959974,
ECO:0000269|PubMed:17224074,
ECO:0000269|PubMed:7887414,
ECO:0000269|PubMed:9450901}.
/FTId=VAR_005993.
VARIANT 273 273 R -> G (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_005994.
VARIANT 273 273 R -> H (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
abolishes sequence-specific DNA binding;
does not induce SNAI1 degradation;
dbSNP:rs28934576).
{ECO:0000269|PubMed:10570149,
ECO:0000269|PubMed:1394225,
ECO:0000269|PubMed:1565144,
ECO:0000269|PubMed:16959974,
ECO:0000269|PubMed:1699228,
ECO:0000269|PubMed:1868473,
ECO:0000269|PubMed:20385133,
ECO:0000269|PubMed:7682763,
ECO:0000269|Ref.14}.
/FTId=VAR_005995.
VARIANT 273 273 R -> L (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934576).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036509.
VARIANT 273 273 R -> N (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045867.
VARIANT 273 273 R -> P (in sporadic cancers; somatic
mutation; dbSNP:rs28934576).
/FTId=VAR_045355.
VARIANT 273 273 R -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045356.
VARIANT 273 273 R -> S (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation;
dbSNP:rs121913343).
/FTId=VAR_045357.
VARIANT 273 273 R -> Y (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045868.
VARIANT 274 274 V -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045358.
VARIANT 274 274 V -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045359.
VARIANT 274 274 V -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_005997.
VARIANT 274 274 V -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_047200.
VARIANT 274 274 V -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045360.
VARIANT 274 274 V -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045361.
VARIANT 275 275 C -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_045362.
VARIANT 275 275 C -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045363.
VARIANT 275 275 C -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045364.
VARIANT 275 275 C -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045365.
VARIANT 275 275 C -> W (in sporadic cancers; somatic
mutation).
/FTId=VAR_005999.
VARIANT 275 275 C -> Y (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs863224451).
{ECO:0000269|PubMed:7887414}.
/FTId=VAR_005998.
VARIANT 276 276 A -> D (in sporadic cancers; somatic
mutation; dbSNP:rs786202082).
/FTId=VAR_045366.
VARIANT 276 276 A -> G (in sporadic cancers; somatic
mutation; dbSNP:rs786202082).
/FTId=VAR_045367.
VARIANT 276 276 A -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045368.
VARIANT 276 276 A -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045369.
VARIANT 276 276 A -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045370.
VARIANT 276 276 A -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045371.
VARIANT 277 277 C -> F (in sporadic cancers; somatic
mutation; dbSNP:rs763098116).
/FTId=VAR_045372.
VARIANT 277 277 C -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_006000.
VARIANT 277 277 C -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045373.
VARIANT 277 277 C -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045374.
VARIANT 277 277 C -> W (in sporadic cancers; somatic
mutation).
/FTId=VAR_047201.
VARIANT 277 277 C -> Y (in an osteosarcoma with no family
history; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs763098116).
/FTId=VAR_045375.
VARIANT 278 278 P -> A (in sporadic cancers; somatic
mutation; dbSNP:rs17849781).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_006001.
VARIANT 278 278 P -> F (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045869.
VARIANT 278 278 P -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_006002.
VARIANT 278 278 P -> L (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs876659802).
{ECO:0000269|PubMed:2263646}.
/FTId=VAR_006003.
VARIANT 278 278 P -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045376.
VARIANT 278 278 P -> S (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
{ECO:0000269|PubMed:16959974,
ECO:0000269|PubMed:2263646,
ECO:0000269|PubMed:9450901}.
/FTId=VAR_006004.
VARIANT 278 278 P -> T (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_006005.
VARIANT 279 279 G -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_006006.
VARIANT 279 279 G -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045377.
VARIANT 279 279 G -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045378.
VARIANT 279 279 G -> W (in sporadic cancers; somatic
mutation).
/FTId=VAR_045379.
VARIANT 280 280 R -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045380.
VARIANT 280 280 R -> I (in sporadic cancers; somatic
mutation; dbSNP:rs121912660).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_006008.
VARIANT 280 280 R -> K (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation; no effect on
interaction with CCAR2).
{ECO:0000269|PubMed:1694291,
ECO:0000269|PubMed:25732823}.
/FTId=VAR_006007.
VARIANT 280 280 R -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045381.
VARIANT 280 280 R -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045382.
VARIANT 280 280 R -> T (in sporadic cancers; somatic
mutation; dbSNP:rs121912660).
{ECO:0000269|PubMed:1631151}.
/FTId=VAR_006009.
VARIANT 281 282 DR -> EW (in sporadic cancers; somatic
mutation).
/FTId=VAR_047203.
VARIANT 281 281 D -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_006010.
VARIANT 281 281 D -> E (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:1459726}.
/FTId=VAR_006011.
VARIANT 281 281 D -> G (in a brain tumor with no family
history; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587781525).
/FTId=VAR_006012.
VARIANT 281 281 D -> H (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:16959974}.
/FTId=VAR_006013.
VARIANT 281 281 D -> N (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs764146326).
/FTId=VAR_047202.
VARIANT 281 281 D -> R (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045870.
VARIANT 281 281 D -> V (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation;
dbSNP:rs587781525).
/FTId=VAR_006014.
VARIANT 281 281 D -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045383.
VARIANT 282 282 R -> G (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs28934574).
/FTId=VAR_045384.
VARIANT 282 282 R -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045385.
VARIANT 282 282 R -> L (in sporadic cancers; somatic
mutation; dbSNP:rs730882008).
/FTId=VAR_006015.
VARIANT 282 282 R -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045386.
VARIANT 282 282 R -> Q (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation;
dbSNP:rs730882008).
{ECO:0000269|PubMed:18453682,
ECO:0000269|Ref.22}.
/FTId=VAR_045387.
VARIANT 282 282 R -> W (in LFS; germline mutation and in
sporadic cancers; somatic mutation; does
not induce SNAI1 degradation;
dbSNP:rs28934574).
{ECO:0000269|PubMed:20385133,
ECO:0000269|PubMed:8829627}.
/FTId=VAR_006016.
VARIANT 283 283 R -> C (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs149633775).
/FTId=VAR_006017.
VARIANT 283 283 R -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_006018.
VARIANT 283 283 R -> H (in a brain tumor with no family
history; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs371409680).
/FTId=VAR_006019.
VARIANT 283 283 R -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045388.
VARIANT 283 283 R -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_006020.
VARIANT 283 283 R -> S (in a sporadic cancer; somatic
mutation; dbSNP:rs149633775).
/FTId=VAR_045389.
VARIANT 284 284 T -> A (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:20959462}.
/FTId=VAR_006021.
VARIANT 284 284 T -> I (in sporadic cancers; somatic
mutation; dbSNP:rs863224685).
/FTId=VAR_045390.
VARIANT 284 284 T -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_045391.
VARIANT 284 284 T -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_006022.
VARIANT 285 285 E -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045392.
VARIANT 285 285 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045393.
VARIANT 285 285 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045394.
VARIANT 285 285 E -> K (in sporadic cancers; somatic
mutation; dbSNP:rs112431538).
{ECO:0000269|PubMed:1459726,
ECO:0000269|PubMed:1694291}.
/FTId=VAR_006023.
VARIANT 285 285 E -> Q (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_006024.
VARIANT 285 285 E -> V (in sporadic cancers; somatic
mutation; dbSNP:rs121912667).
/FTId=VAR_006025.
VARIANT 286 286 E -> A (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_006026.
VARIANT 286 286 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_006027.
VARIANT 286 286 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_006028.
VARIANT 286 286 E -> K (in sporadic cancers; somatic
mutation; dbSNP:rs786201059).
{ECO:0000269|PubMed:11023613,
ECO:0000269|PubMed:8316628}.
/FTId=VAR_006029.
VARIANT 286 286 E -> L (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045871.
VARIANT 286 286 E -> Q (in sporadic cancers; somatic
mutation). {ECO:0000269|PubMed:8829627}.
/FTId=VAR_006030.
VARIANT 286 286 E -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045395.
VARIANT 287 287 E -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047204.
VARIANT 287 287 E -> D (in sporadic cancers; somatic
mutation; dbSNP:rs748891343).
/FTId=VAR_045396.
VARIANT 287 287 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045397.
VARIANT 287 287 E -> K (in sporadic cancers; somatic
mutation; dbSNP:rs587782006).
/FTId=VAR_045398.
VARIANT 287 287 E -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045399.
VARIANT 288 288 N -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045400.
VARIANT 288 288 N -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_045401.
VARIANT 288 288 N -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045402.
VARIANT 288 288 N -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045403.
VARIANT 288 288 N -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045404.
VARIANT 289 289 L -> F (in sporadic cancers; somatic
mutation).
/FTId=VAR_045405.
VARIANT 289 289 L -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045406.
VARIANT 289 289 L -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045407.
VARIANT 289 289 L -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045408.
VARIANT 289 289 L -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045409.
VARIANT 290 290 R -> C (in sporadic cancers; somatic
mutation; dbSNP:rs770374782).
/FTId=VAR_045410.
VARIANT 290 290 R -> H (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs55819519).
/FTId=VAR_045411.
VARIANT 290 290 R -> L (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
/FTId=VAR_045412.
VARIANT 291 291 K -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045413.
VARIANT 291 291 K -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_045414.
VARIANT 291 291 K -> N (in sporadic cancers; somatic
mutation; dbSNP:rs372613518).
/FTId=VAR_045415.
VARIANT 291 291 K -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_047205.
VARIANT 291 291 K -> R (in sporadic cancers; somatic
mutation; dbSNP:rs781490101).
/FTId=VAR_045416.
VARIANT 291 291 K -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045417.
VARIANT 292 292 K -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045418.
VARIANT 292 292 K -> G (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045872.
VARIANT 292 292 K -> I (in LFS; germline mutation and in
a sporadic cancer; somatic mutation;
dbSNP:rs121912663).
{ECO:0000269|PubMed:10484981}.
/FTId=VAR_015819.
VARIANT 292 292 K -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045419.
VARIANT 292 292 K -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045420.
VARIANT 292 292 K -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045421.
VARIANT 292 292 K -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045422.
VARIANT 293 293 G -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045423.
VARIANT 293 293 G -> R (in sporadic cancers; somatic
mutation; dbSNP:rs587780076).
/FTId=VAR_045424.
VARIANT 293 293 G -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045425.
VARIANT 293 293 G -> W (in a brain tumor with no family
history; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587780076).
/FTId=VAR_045426.
VARIANT 294 294 E -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045427.
VARIANT 294 294 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045428.
VARIANT 294 294 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045429.
VARIANT 294 294 E -> K (in sporadic cancers; somatic
mutation).
/FTId=VAR_047206.
VARIANT 294 294 E -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045430.
VARIANT 294 294 E -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045431.
VARIANT 295 295 P -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045432.
VARIANT 295 295 P -> L (in sporadic cancers; somatic
mutation; dbSNP:rs751713111).
/FTId=VAR_045433.
VARIANT 295 295 P -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045434.
VARIANT 295 295 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045435.
VARIANT 296 296 H -> C (in sporadic cancers; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045873.
VARIANT 296 296 H -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045436.
VARIANT 296 296 H -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_047207.
VARIANT 296 296 H -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045437.
VARIANT 296 296 H -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_006031.
VARIANT 296 296 H -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045438.
VARIANT 296 296 H -> R (in a sporadic cancer; somatic
mutation; dbSNP:rs483352696).
/FTId=VAR_045439.
VARIANT 296 296 H -> Y (in sporadic cancers; somatic
mutation; dbSNP:rs672601296).
/FTId=VAR_045440.
VARIANT 297 297 H -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045441.
VARIANT 297 297 H -> N (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045442.
VARIANT 297 297 H -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045443.
VARIANT 297 297 H -> R (in sporadic cancers; somatic
mutation; dbSNP:rs876659477).
/FTId=VAR_045444.
VARIANT 297 297 H -> Y (in sporadic cancers; somatic
mutation).
/FTId=VAR_045445.
VARIANT 298 298 E -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045446.
VARIANT 298 298 E -> D (in sporadic cancers; somatic
mutation).
/FTId=VAR_045447.
VARIANT 298 298 E -> K (in sporadic cancers; somatic
mutation; dbSNP:rs201744589).
/FTId=VAR_045448.
VARIANT 298 298 E -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045449.
VARIANT 298 298 E -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_045450.
VARIANT 299 299 L -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045451.
VARIANT 299 299 L -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045452.
VARIANT 299 299 L -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045453.
VARIANT 299 299 L -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045454.
VARIANT 300 300 P -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045455.
VARIANT 300 300 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045456.
VARIANT 300 300 P -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_006032.
VARIANT 300 300 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045457.
VARIANT 301 301 P -> A (in sporadic cancers; somatic
mutation).
/FTId=VAR_045458.
VARIANT 301 301 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_006033.
VARIANT 301 301 P -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_045459.
VARIANT 301 301 P -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045460.
VARIANT 301 301 P -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047208.
VARIANT 302 302 G -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045461.
VARIANT 302 302 G -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_006034.
VARIANT 302 302 G -> R (in a sporadic cancer; somatic
mutation; dbSNP:rs863224686).
/FTId=VAR_045462.
VARIANT 302 302 G -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_006035.
VARIANT 303 303 S -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_045463.
VARIANT 303 303 S -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045464.
VARIANT 303 303 S -> N (in sporadic cancers; somatic
mutation; dbSNP:rs876658714).
/FTId=VAR_045465.
VARIANT 303 303 S -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045466.
VARIANT 304 304 T -> A (in sporadic cancers; somatic
mutation; dbSNP:rs587782654).
/FTId=VAR_045467.
VARIANT 304 304 T -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045468.
VARIANT 304 304 T -> N (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045469.
VARIANT 304 304 T -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047209.
VARIANT 305 305 K -> E (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045470.
VARIANT 305 305 K -> M (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation).
/FTId=VAR_045471.
VARIANT 305 305 K -> N (in sporadic cancers; somatic
mutation; loss of nuclear localization).
{ECO:0000269|PubMed:10551826}.
/FTId=VAR_045472.
VARIANT 305 305 K -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045473.
VARIANT 305 305 K -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045474.
VARIANT 306 306 R -> P (in LFS; germline mutation and in
a sporadic cancer; somatic mutation).
/FTId=VAR_045475.
VARIANT 306 306 R -> Q (in sporadic cancers; somatic
mutation).
/FTId=VAR_006036.
VARIANT 307 307 A -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045476.
VARIANT 307 307 A -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045477.
VARIANT 307 307 A -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_006037.
VARIANT 308 308 L -> M (in sporadic cancers; somatic
mutation).
/FTId=VAR_045478.
VARIANT 308 308 L -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045479.
VARIANT 309 309 P -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045480.
VARIANT 309 309 P -> S (in LFS; germline mutation and in
sporadic cancers; somatic mutation).
{ECO:0000269|Ref.14}.
/FTId=VAR_006038.
VARIANT 310 310 N -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045481.
VARIANT 310 310 N -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045482.
VARIANT 311 311 N -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045483.
VARIANT 311 311 N -> K (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045484.
VARIANT 311 311 N -> S (in a sporadic cancer; somatic
mutation; dbSNP:rs56184981).
/FTId=VAR_045485.
VARIANT 311 311 N -> T (in sporadic cancers; somatic
mutation; dbSNP:rs56184981).
/FTId=VAR_045486.
VARIANT 312 312 T -> I (in sporadic cancers; somatic
mutation).
/FTId=VAR_045487.
VARIANT 312 312 T -> S (in sporadic cancers; somatic
mutation; dbSNP:rs145151284).
/FTId=VAR_045488.
VARIANT 313 313 S -> C (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045489.
VARIANT 313 313 S -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045490.
VARIANT 313 313 S -> N (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045491.
VARIANT 313 313 S -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045492.
VARIANT 314 314 S -> F (in a sporadic cancer; somatic
mutation; dbSNP:rs751440465).
/FTId=VAR_045493.
VARIANT 315 315 S -> C (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045494.
VARIANT 315 315 S -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045495.
VARIANT 315 315 S -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045496.
VARIANT 316 316 P -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045497.
VARIANT 316 316 P -> T (in a sporadic cancer; somatic
mutation; dbSNP:rs772773208).
/FTId=VAR_045498.
VARIANT 317 317 Q -> H (in a kidney cancer with no family
history; germline mutation and in a
sporadic cancer; somatic mutation).
/FTId=VAR_045499.
VARIANT 317 317 Q -> K (in sporadic cancers; somatic
mutation; dbSNP:rs764735889).
/FTId=VAR_045500.
VARIANT 317 317 Q -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047210.
VARIANT 317 317 Q -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045501.
VARIANT 317 317 Q -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045502.
VARIANT 318 318 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045503.
VARIANT 319 319 K -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045504.
VARIANT 319 319 K -> N (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045505.
VARIANT 319 319 K -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045506.
VARIANT 320 320 K -> N (in sporadic cancers; somatic
mutation).
/FTId=VAR_045507.
VARIANT 321 321 K -> E (in kidney cancer; germline
mutation).
/FTId=VAR_045508.
VARIANT 321 321 K -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045509.
VARIANT 322 322 P -> L (in sporadic cancers; somatic
mutation).
/FTId=VAR_045510.
VARIANT 322 322 P -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045511.
VARIANT 323 323 L -> G (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045874.
VARIANT 323 323 L -> M (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045512.
VARIANT 323 323 L -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045513.
VARIANT 323 323 L -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045514.
VARIANT 323 323 L -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047211.
VARIANT 324 324 D -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045515.
VARIANT 324 324 D -> S (in a sporadic cancer; somatic
mutation; requires 2 nucleotide
substitutions).
/FTId=VAR_045875.
VARIANT 324 324 D -> Y (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045516.
VARIANT 325 325 G -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045517.
VARIANT 325 325 G -> E (in sporadic cancers; somatic
mutation).
/FTId=VAR_045518.
VARIANT 325 325 G -> V (in LFS; germline mutation;
dbSNP:rs28934271).
{ECO:0000269|PubMed:1565144}.
/FTId=VAR_006039.
VARIANT 326 326 E -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045519.
VARIANT 327 327 Y -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045520.
VARIANT 327 327 Y -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045521.
VARIANT 328 328 F -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045522.
VARIANT 328 328 F -> S (in sporadic cancers; somatic
mutation).
/FTId=VAR_045523.
VARIANT 328 328 F -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045524.
VARIANT 329 329 T -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045525.
VARIANT 329 329 T -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045526.
VARIANT 330 330 L -> H (in sporadic cancers; somatic
mutation).
/FTId=VAR_045527.
VARIANT 330 330 L -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047212.
VARIANT 330 330 L -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045528.
VARIANT 331 331 Q -> H (in sporadic cancers; somatic
mutation; dbSNP:rs11575996).
/FTId=VAR_045529.
VARIANT 331 331 Q -> P (in sporadic cancers; somatic
mutation).
/FTId=VAR_045530.
VARIANT 331 331 Q -> R (in sporadic cancers; somatic
mutation).
/FTId=VAR_045531.
VARIANT 332 332 I -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045532.
VARIANT 334 334 G -> V (in sporadic cancers; somatic
mutation).
/FTId=VAR_006040.
VARIANT 334 334 G -> W (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045533.
VARIANT 335 335 R -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045534.
VARIANT 335 335 R -> H (in a sporadic cancer; somatic
mutation; dbSNP:rs771939956).
/FTId=VAR_045535.
VARIANT 335 335 R -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045536.
VARIANT 337 337 R -> C (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs587782529).
{ECO:0000269|PubMed:9452042}.
/FTId=VAR_006041.
VARIANT 337 337 R -> H (in LFS; germline mutation and in
sporadic cancers; somatic mutation;
dbSNP:rs121912664).
{ECO:0000269|PubMed:11481490}.
/FTId=VAR_035016.
VARIANT 337 337 R -> L (in sporadic cancers; somatic
mutation; dbSNP:rs121912664).
/FTId=VAR_045537.
VARIANT 337 337 R -> P (in sporadic cancers; somatic
mutation; dbSNP:rs121912664).
/FTId=VAR_045538.
VARIANT 338 338 F -> I (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045539.
VARIANT 338 338 F -> L (in a sporadic cancer; somatic
mutation; dbSNP:rs150293825).
/FTId=VAR_045540.
VARIANT 339 339 E -> K (in a sporadic cancer; somatic
mutation; dbSNP:rs17882252).
{ECO:0000269|Ref.12}.
/FTId=VAR_022316.
VARIANT 339 339 E -> Q (in a sporadic cancer; somatic
mutation; dbSNP:rs17882252).
/FTId=VAR_045541.
VARIANT 341 341 F -> C (in sporadic cancers; somatic
mutation).
/FTId=VAR_045542.
VARIANT 342 342 R -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045543.
VARIANT 342 342 R -> P (in sporadic cancers; somatic
mutation; dbSNP:rs375338359).
/FTId=VAR_045544.
VARIANT 342 342 R -> Q (in sporadic cancers; somatic
mutation; dbSNP:rs375338359).
/FTId=VAR_047213.
VARIANT 343 343 E -> G (in sporadic cancers; somatic
mutation).
/FTId=VAR_045545.
VARIANT 344 344 L -> P (in LFS; germline mutation and in
a sporadic cancer; somatic mutation;
dbSNP:rs121912662).
/FTId=VAR_045546.
VARIANT 344 344 L -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045547.
VARIANT 346 346 E -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045548.
VARIANT 347 347 A -> G (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045549.
VARIANT 347 347 A -> T (in sporadic cancers; somatic
mutation).
/FTId=VAR_045550.
VARIANT 348 348 L -> F (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045551.
VARIANT 348 348 L -> S (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045552.
VARIANT 349 349 E -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045553.
VARIANT 352 352 D -> H (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045554.
VARIANT 353 353 A -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045555.
VARIANT 354 354 Q -> E (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045556.
VARIANT 354 354 Q -> K (in a sporadic cancer; somatic
mutation; dbSNP:rs755394212).
/FTId=VAR_045557.
VARIANT 354 354 Q -> R (in sporadic cancers; somatic
mutation; dbSNP:rs752142489).
/FTId=VAR_047214.
VARIANT 356 356 G -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045558.
VARIANT 356 356 G -> W (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045559.
VARIANT 358 358 E -> D (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045560.
VARIANT 358 358 E -> K (in a sporadic cancer; somatic
mutation; dbSNP:rs587782237).
/FTId=VAR_045561.
VARIANT 360 360 G -> A (in dbSNP:rs35993958).
/FTId=VAR_045562.
VARIANT 360 360 G -> V (in a sporadic cancer; somatic
mutation; dbSNP:rs35993958).
/FTId=VAR_045563.
VARIANT 363 363 R -> K (in a sporadic cancer; somatic
mutation; dbSNP:rs876660285).
/FTId=VAR_045564.
VARIANT 364 364 A -> P (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045565.
VARIANT 364 364 A -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045566.
VARIANT 364 364 A -> V (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045567.
VARIANT 365 365 H -> R (in a sporadic cancer; somatic
mutation).
/FTId=VAR_047215.
VARIANT 365 365 H -> Y (in a familial cancer not matching
LFS; germline mutation and in a sporadic
cancer; somatic mutation;
dbSNP:rs267605075).
/FTId=VAR_045568.
VARIANT 366 366 S -> A (in a familial cancer not matching
LFS; germline mutation and in sporadic
cancers; somatic mutation;
dbSNP:rs17881470). {ECO:0000269|Ref.12}.
/FTId=VAR_022317.
VARIANT 370 370 K -> Q (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045569.
VARIANT 376 376 S -> A (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045570.
VARIANT 376 376 S -> T (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045571.
VARIANT 379 379 R -> H (in sporadic cancers; somatic
mutation; dbSNP:rs863224682).
/FTId=VAR_045572.
VARIANT 385 385 F -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045573.
VARIANT 389 389 G -> W (in a sporadic cancer; somatic
mutation; dbSNP:rs587783064).
/FTId=VAR_045574.
VARIANT 392 392 S -> L (in a sporadic cancer; somatic
mutation).
/FTId=VAR_045575.
MUTAGEN 15 15 S->A: Loss of interaction with PPP2R5C,
PPP2CA AND PPP2R1A.
{ECO:0000269|PubMed:17967874}.
MUTAGEN 18 18 T->A: No effect on interaction with MDM2
and increase in protein levels after DNA
damage. {ECO:0000269|PubMed:10570149}.
MUTAGEN 20 20 S->A: Abolishes phosphorylation site.
Abolishes increase in protein levels
after DNA damage.
{ECO:0000269|PubMed:10570149}.
MUTAGEN 20 20 S->D: Constitutively increased TP53
protein levels.
{ECO:0000269|PubMed:10570149}.
MUTAGEN 22 23 LW->QS: Loss of interaction with MDM2,
leading to constitutively increased TP53
protein levels.
{ECO:0000269|PubMed:10570149}.
MUTAGEN 37 37 S->D: Abolihes phosphorylation by
MAPKAPK5. {ECO:0000269|PubMed:17254968}.
MUTAGEN 46 46 S->A: Abolishes phosphorylation by DYRK2
and HIPK2 and acetylation of K-382 by
CREBBP. {ECO:0000269|PubMed:11740489,
ECO:0000269|PubMed:16219768,
ECO:0000269|PubMed:17349958}.
MUTAGEN 46 46 Missing: Alters interaction with WWOX.
{ECO:0000269|PubMed:11740489,
ECO:0000269|PubMed:16219768,
ECO:0000269|PubMed:17349958}.
MUTAGEN 55 55 T->A: Blocks phosphorylation by TAF1.
{ECO:0000269|PubMed:15053879}.
MUTAGEN 183 183 S->A: Abolishes strongly phosphorylation.
{ECO:0000269|PubMed:20959462}.
MUTAGEN 183 183 S->E: Inhibits slightly its
transcriptional activity.
{ECO:0000269|PubMed:20959462}.
MUTAGEN 248 248 R->S: Does not induce SNAI1 degradation.
{ECO:0000269|PubMed:20385133}.
MUTAGEN 269 269 S->A: Abolishes phosphorylation.
{ECO:0000269|PubMed:20959462}.
MUTAGEN 269 269 S->E: Inhibits strongly its
transcriptional activity.
{ECO:0000269|PubMed:20959462}.
MUTAGEN 284 284 T->E: Inhibits strongly its
transcriptional activity.
MUTAGEN 291 292 KK->RR: Abolishes polyubiquitination by
MKRN1. {ECO:0000269|PubMed:19536131}.
MUTAGEN 319 319 K->A: Loss of nuclear localization; when
associated with A-320 and A-321.
{ECO:0000269|PubMed:2156209}.
MUTAGEN 320 320 K->A: Loss of nuclear localization; when
associated with A-319 and A-321.
{ECO:0000269|PubMed:2156209}.
MUTAGEN 321 321 K->A: Loss of nuclear localization; when
associated with A-319 and A-320.
{ECO:0000269|PubMed:2156209}.
MUTAGEN 359 359 P->D: Abolishes binding to USP7.
{ECO:0000269|PubMed:16402859}.
MUTAGEN 361 361 G->E: Abolishes binding to USP7.
{ECO:0000269|PubMed:16402859}.
MUTAGEN 362 362 S->A: Abolishes binding to USP7.
{ECO:0000269|PubMed:16402859}.
MUTAGEN 370 370 K->R: Induces a decrease in methylation
by SMYD2. {ECO:0000269|PubMed:17108971}.
MUTAGEN 372 372 K->R: Induces a decrease in protein
stabilization.
{ECO:0000269|PubMed:15525938}.
MUTAGEN 373 373 K->R: Abolishes dimethylation by EHMT1
and EHMT2. {ECO:0000269|PubMed:20118233}.
MUTAGEN 382 382 K->A: Abolishes acetylation by CREBBP.
{ECO:0000269|PubMed:10884347,
ECO:0000269|PubMed:11740489,
ECO:0000269|PubMed:17707234,
ECO:0000269|PubMed:20870725}.
MUTAGEN 382 382 K->R: Abolishes monomethylation by KMT5A.
{ECO:0000269|PubMed:10884347,
ECO:0000269|PubMed:11740489,
ECO:0000269|PubMed:17707234,
ECO:0000269|PubMed:20870725}.
MUTAGEN 383 383 L->A: Abolishes S-315 phosphorylation by
CDK2/cyclin A.
{ECO:0000269|PubMed:10884347}.
MUTAGEN 385 385 F->A: Reduced SUMO1 conjugation.
{ECO:0000269|PubMed:10884347,
ECO:0000269|PubMed:11124955}.
MUTAGEN 386 386 K->A: Abolishes SUMO1 conjugation, in
vitro and in vivo.
{ECO:0000269|PubMed:11124955,
ECO:0000269|Ref.35}.
MUTAGEN 387 387 T->A: No effect SUMO1 conjugation.
{ECO:0000269|PubMed:11124955}.
MUTAGEN 388 388 E->A: Abolishes SUMO1 conjugation.
{ECO:0000269|PubMed:11124955}.
HELIX 3 6 {ECO:0000244|PDB:5HOU}.
TURN 8 10 {ECO:0000244|PDB:5HOU}.
HELIX 19 23 {ECO:0000244|PDB:3DAC}.
STRAND 27 29 {ECO:0000244|PDB:2K8F}.
STRAND 33 35 {ECO:0000244|PDB:2L14}.
HELIX 36 38 {ECO:0000244|PDB:2B3G}.
HELIX 41 44 {ECO:0000244|PDB:2B3G}.
HELIX 47 55 {ECO:0000244|PDB:2B3G}.
TURN 105 108 {ECO:0000244|PDB:3D06}.
STRAND 110 112 {ECO:0000244|PDB:3D06}.
STRAND 119 121 {ECO:0000244|PDB:5BUA}.
STRAND 124 127 {ECO:0000244|PDB:3D06}.
TURN 128 131 {ECO:0000244|PDB:3D06}.
STRAND 132 135 {ECO:0000244|PDB:3D06}.
STRAND 141 146 {ECO:0000244|PDB:3D06}.
STRAND 156 165 {ECO:0000244|PDB:3D06}.
HELIX 166 168 {ECO:0000244|PDB:3D06}.
HELIX 177 180 {ECO:0000244|PDB:3D06}.
STRAND 181 183 {ECO:0000244|PDB:4KVP}.
STRAND 187 189 {ECO:0000244|PDB:4MZI}.
STRAND 194 199 {ECO:0000244|PDB:3D06}.
STRAND 204 207 {ECO:0000244|PDB:3D06}.
TURN 209 211 {ECO:0000244|PDB:3D06}.
STRAND 214 219 {ECO:0000244|PDB:3D06}.
TURN 225 227 {ECO:0000244|PDB:2FEJ}.
STRAND 228 236 {ECO:0000244|PDB:3D06}.
HELIX 240 242 {ECO:0000244|PDB:3D07}.
TURN 243 248 {ECO:0000244|PDB:3D06}.
STRAND 251 258 {ECO:0000244|PDB:3D06}.
STRAND 260 262 {ECO:0000244|PDB:2ADY}.
STRAND 264 274 {ECO:0000244|PDB:3D06}.
HELIX 278 287 {ECO:0000244|PDB:3D06}.
HELIX 288 290 {ECO:0000244|PDB:4HJE}.
HELIX 322 324 {ECO:0000244|PDB:3Q01}.
STRAND 327 334 {ECO:0000244|PDB:3Q01}.
HELIX 335 354 {ECO:0000244|PDB:1AIE}.
HELIX 375 380 {ECO:0000244|PDB:1YC5}.
HELIX 381 385 {ECO:0000244|PDB:4X34}.
SEQUENCE 393 AA; 43653 MW; AD5C149FD8106131 CRC64;
MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QIRGRERFEM FRELNEALEL KDAQAGKEPG
GSRAHSSHLK SKKGQSTSRH KKLMFKTEGP DSD


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