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.




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