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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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