Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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