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ATM c.480_484del ;(p.Q161Tfs*22)
Variant ID: 11-108106543-TCTCAG-T
NM_000051.3(
ATM
):c.480_484del;(p.Q161Tfs*22)
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:
Treatment of Granulomas in Patients With Ataxia Telangiectasia.
Frontiers In Immunology
Woelke, Sandra S; Valesky, Eva E; Bakhtiar, Shahrzad S; Pommerening, Helena H; Pfeffermann, L M LM; Schubert, Ralf R; Zielen, Stefan S
Publication Date: 2018
Variant appearance in text: ATM: 480_484del
PubMed Link:
30279689
Variant Present in the following documents:
Main text
fimmu-09-02000.pdf
View BVdb publication page
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: 480_484delTCAGC; Gln161fs
PubMed Link:
27304073
Variant Present in the following documents:
elife-14709-supp1.xlsx, sheet 1
View BVdb publication page