ATM c.1346G>C ;(p.G449A)

Variant ID: 11-108121538-G-C

NM_000051.3(ATM):c.1346G>C;(p.G449A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife
Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S
Publication Date: 2016-06-15

Variant appearance in text: ATM: 1346G>C; Gly449Ala
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 1
View BVdb publication page



Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Neuromolecular Medicine
Huang, Yu Y; Yang, Lu L; Wang, Jianchun J; Yang, Fan F; Xiao, Ying Y; Xia, Rongjun R; Yuan, Xianhou X; Yan, Mingshan M
Publication Date: 2013-09

Variant appearance in text: ATM: 1346G>C
PubMed Link: 23807571
Variant Present in the following documents:
  • Main text
View BVdb publication page