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.




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