ATM c.206A>T ;(p.Q69L)

Variant ID: 11-108099925-A-T

NM_000051.3(ATM):c.206A>T;(p.Q69L)

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:

ADAR1 controls apoptosis of stressed cells by inhibiting Staufen1-mediated mRNA decay.

Nature Structural & Molecular Biology
Sakurai, Masayuki M; Shiromoto, Yusuke Y; Ota, Hiromitsu H; Song, Chunzi C; Kossenkov, Andrew V AV; Wickramasinghe, Jayamanna J; Showe, Louise C LC; Skordalakes, Emmanuel E; Tang, Hsin-Yao HY; Speicher, David W DW; Nishikura, Kazuko K
Publication Date: 2017-06

Variant appearance in text: ATM: Q69L
PubMed Link: 28436945
Variant Present in the following documents:
  • Main text
  • nihms863893.pdf
View BVdb publication page