POLE c.1315C>G ;(p.L439V)

Variant ID: 12-133250205-G-C

NM_006231.2(POLE):c.1315C>G;(p.L439V)

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:

Mutagenic mechanisms of cancer-associated DNA polymerase ϵ alleles.

Nucleic Acids Research
Herzog, Mareike M; Alonso-Perez, Elisa E; Salguero, Israel I; Warringer, Jonas J; Adams, David J DJ; Jackson, Stephen P SP; Puddu, Fabio F
Publication Date: 2021-04-19

Variant appearance in text: POLE: L439V
PubMed Link: 33764464
Variant Present in the following documents:
  • Main text
  • gkab160.pdf
View BVdb publication page


Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae.

G3 (Bethesda, Md.)
Barbari, Stephanie R SR; Kane, Daniel P DP; Moore, Elizabeth A EA; Shcherbakova, Polina V PV
Publication Date: 2018-03-02

Variant appearance in text: POLE: L439V
PubMed Link: 29352080
Variant Present in the following documents:
  • Main text
  • 1019FileS1.pdf
  • 1019.pdf
View BVdb publication page