POLE c.2194_2195delinsGC ;(p.K732A)

Variant ID: 12-133244213-TT-GC

NM_006231.2(POLE):c.2194_2195delinsGC;(p.K732A)

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:

Ctf18-RFC and DNA Pol ϵ form a stable leading strand polymerase/clamp loader complex required for normal and perturbed DNA replication.

Nucleic Acids Research
Stokes, Katy K; Winczura, Alicja A; Song, Boyuan B; Piccoli, Giacomo De G; Grabarczyk, Daniel B DB
Publication Date: 2020-08-20

Variant appearance in text: POLE1: K732A
PubMed Link: 32585006
Variant Present in the following documents:
  • Main text
  • gkaa541.pdf
View BVdb publication page