ATM c.487C>T ;(p.Q163*)

Variant ID: 11-108106552-C-T

NM_000051.3(ATM):c.487C>T;(p.Q163*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Defects in Efflux (oprM), β-Lactamase (ampC), and Lipopolysaccharide Transport (lptE) Genes Mediate Antibiotic Hypersusceptibility of Pseudomonas aeruginosa Strain Z61.

Antimicrobial Agents And Chemotherapy
Shen, Xiaoyu X; Johnson, Nicole V NV; Kreamer, Naomi N K NNK; Barnes, S Whitney SW; Walker, John R JR; Woods, Angela L AL; Six, David A DA; Dean, C R CR
Publication Date: 2019-07

Variant appearance in text: ATM: Q163*
PubMed Link: 31036686
Variant Present in the following documents:
  • Main text
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: 487C>T; Gln163*
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 1
View BVdb publication page



Mantle cell lymphoma is characterized by inactivation of the ATM gene.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Schaffner, C C; Idler, I I; Stilgenbauer, S S; Döhner, H H; Lichter, P P
Publication Date: 2000-03-14

Variant appearance in text: ATM: Gln163ter
PubMed Link: 10706620
Variant Present in the following documents:
  • Main text
View BVdb publication page