POLE c.5818T>G ;(p.S1940A)

Variant ID: 12-133210958-A-C

NM_006231.2(POLE):c.5818T>G;(p.S1940A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: POLE: S1940A
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Human DNA polymerase ε is phosphorylated at serine-1940 after DNA damage and interacts with the iron-sulfur complex chaperones CIAO1 and MMS19.

Dna Repair
Moiseeva, Tatiana N TN; Gamper, Armin M AM; Hood, Brian L BL; Conrads, Thomas P TP; Bakkenist, Christopher J CJ
Publication Date: 2016-07

Variant appearance in text: POLE1: S1940A
PubMed Link: 27235625
Variant Present in the following documents:
  • Main text
View BVdb publication page