Bibliome.ai browser hg19
Search
About
Stats
FAQ
ATM c.916A>G ;(p.T306A)
Variant ID: 11-108117705-A-G
NM_000051.3(
ATM
):c.916A>G;(p.T306A)
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:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: ATM: 916A>G; Thr306Ala
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Subunit-specific role for the amino-terminal domain of AMPA receptors in synaptic targeting.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Díaz-Alonso, Javier J; Sun, Yujiao J YJ; Granger, Adam J AJ; Levy, Jonathan M JM; Blankenship, Sabine M SM; Nicoll, Roger A RA
Publication Date: 2017-07-03
Variant appearance in text: ATD: T306A
PubMed Link:
28630296
Variant Present in the following documents:
Main text
View BVdb publication page