ATM c.1423T>G ;(p.S475A)

Variant ID: 11-108121615-T-G

NM_000051.3(ATM):c.1423T>G;(p.S475A)

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:

Regulation of the DNA Damage Response by DNA-PKcs Inhibitory Phosphorylation of ATM.

Molecular Cell
Zhou, Yi Y; Lee, Ji-Hoon JH; Jiang, Wenxia W; Crowe, Jennie L JL; Zha, Shan S; Paull, Tanya T TT
Publication Date: 2017-01-05

Variant appearance in text: ATM: S475A
PubMed Link: 27939942
Variant Present in the following documents:
  • Main text
View BVdb publication page