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POLE c.777C>A ;(p.R259=)
Variant ID: 12-133253973-G-T
NM_006231.2(
POLE
):c.777C>A;(p.R259=)
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:
A common cancer-associated DNA polymerase ε mutation causes an exceptionally strong mutator phenotype, indicating fidelity defects distinct from loss of proofreading.
Cancer Research
Kane, Daniel P DP; Shcherbakova, Polina V PV
Publication Date: 2014-04-01
Variant appearance in text: POLE: R259R
PubMed Link:
24525744
Variant Present in the following documents:
Main text
View BVdb publication page