ATM c.3340A>T ;(p.K1114*)

Variant ID: 11-108150273-A-T

NM_000051.3(ATM):c.3340A>T;(p.K1114*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ATM: 3340A>T; Lys1114Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 3340A>T; Lys1114Ter
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.

Journal Of The National Cancer Institute
Lowery, Maeve A MA; Wong, Winston W; Jordan, Emmet J EJ; Lee, Jonathan W JW; Kemel, Yelena Y; Vijai, Joseph J; Mandelker, Diana D; Zehir, Ahmet A; Capanu, Marinela M; Salo-Mullen, Erin E; Arnold, Angela G AG; Yu, Kenneth H KH; Varghese, Anna M AM; Kelsen, David P DP; Brenner, Robin R; Kaufmann, Erica E; Ravichandran, Vignesh V; Mukherjee, Semanti S; Berger, Michael F MF; Hyman, David M DM; Klimstra, David S DS; Abou-Alfa, Ghassan K GK; Tjan, Catherine C; Covington, Christina C; Maynard, Hannah H; Allen, Peter J PJ; Askan, Gokce G; Leach, Steven D SD; Iacobuzio-Donahue, Christine A CA; Robson, Mark E ME; Offit, Kenneth K; Stadler, Zsofia K ZK; O'Reilly, Eileen M EM
Publication Date: 2018-10-01

Variant appearance in text: ATM: 3340A>T; Lys1114*
PubMed Link: 29506128
Variant Present in the following documents:
  • Main text
View BVdb publication page