ATM c.3968A>G ;(p.K1323R)

Variant ID: 11-108155175-A-G

NM_000051.3(ATM):c.3968A>G;(p.K1323R)

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: 3968A>G; Lys1323Arg
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



WSB1 overcomes oncogene-induced senescence by targeting ATM for degradation.

Cell Research
Kim, Jung Jin JJ; Lee, Seung Baek SB; Yi, Sang-Yeop SY; Han, Sang-Ah SA; Kim, Sun-Hyun SH; Lee, Jong-Min JM; Tong, Seo-Yun SY; Yin, Ping P; Gao, Bowen B; Zhang, Jun J; Lou, Zhenkun Z
Publication Date: 2017-02

Variant appearance in text: ATM: K1323R
PubMed Link: 27958289
Variant Present in the following documents:
  • Main text
View BVdb publication page