ATM c.3758A>G ;(p.K1253R)

Variant ID: 11-108154965-A-G

NM_000051.3(ATM):c.3758A>G;(p.K1253R)

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:

RAD18 promotes DNA double-strand break repair during G1 phase through chromatin retention of 53BP1.

Nucleic Acids Research
Watanabe, Kenji K; Iwabuchi, Kuniyoshi K; Sun, Jinghua J; Tsuji, Yuri Y; Tani, Tokio T; Tokunaga, Kazuaki K; Date, Takayasu T; Hashimoto, Mitsumasa M; Yamaizumi, Masaru M; Tateishi, Satoshi S
Publication Date: 2009-04

Variant appearance in text: ATM: K1253R
PubMed Link: 19228710
Variant Present in the following documents:
  • Main text
  • gkp082.pdf
View BVdb publication page