TP53 c.185A>G ;(p.E62G)

Variant ID: 17-7579502-T-C

NM_000546.5(TP53):c.185A>G;(p.E62G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017

Variant appearance in text: TP53: E62G
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s008.xlsx, sheet 1
  • pone.0189881.s007.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: TP53: E62G
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Nature Communications
Schulz, Eduard E; Klampfl, Petra P; Holzapfel, Stefanie S; Janecke, Andreas R AR; Ulz, Peter P; Renner, Wilfried W; Kashofer, Karl K; Nojima, Satoshi S; Leitner, Anita A; Zebisch, Armin A; Wölfler, Albert A; Hofer, Sybille S; Gerger, Armin A; Lax, Sigurd S; Beham-Schmid, Christine C; Steinke, Verena V; Heitzer, Ellen E; Geigl, Jochen B JB; Windpassinger, Christian C; Hoefler, Gerald G; Speicher, Michael R MR; Boland, C Richard CR; Kumanogoh, Atsushi A; Sill, Heinz H
Publication Date: 2014-10-13

Variant appearance in text: TP53: E62G
PubMed Link: 25307848
Variant Present in the following documents:
  • ncomms6191-s1.pdf
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The corepressor mSin3a interacts with the proline-rich domain of p53 and protects p53 from proteasome-mediated degradation.

Molecular And Cellular Biology
Zilfou, J T JT; Hoffman, W H WH; Sank, M M; George, D L DL; Murphy, M M
Publication Date: 2001-06

Variant appearance in text: p53: E62G
PubMed Link: 11359905
Variant Present in the following documents:
  • Main text
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