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