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POLE c.5818_5819inv ;(p.S1940D)
Variant ID: 12-133210957-GA-TC
NM_006231.2(
POLE
):c.5818_5819inv;(p.S1940D)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: S1940D
PubMed Link:
27235625
Variant Present in the following documents:
Main text
View BVdb publication page