ATM c.5414G>A ;(p.W1805*)

Variant ID: 11-108173674-G-A

NM_000051.3(ATM):c.5414G>A;(p.W1805*)

This variant was identified in 4 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: 5414G>A; Trp1805Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Deciphering spatial genomic heterogeneity at a single cell resolution in multiple myeloma.

Nature Communications
Merz, Maximilian M; Merz, Almuth Maria Anni AMA; Wang, Jie J; Wei, Lei L; Hu, Qiang Q; Hutson, Nicholas N; Rondeau, Cherie C; Celotto, Kimberly K; Belal, Ahmed A; Alberico, Ronald R; Block, AnneMarie W AW; Mohammadpour, Hemn H; Wallace, Paul K PK; Tario, Joseph J; Luce, Jesse J; Glenn, Sean T ST; Singh, Prashant P; Herr, Megan M MM; Hahn, Theresa T; Samur, Mehmet M; Munshi, Nikhil N; Liu, Song S; McCarthy, Philip L PL; Hillengass, Jens J
Publication Date: 2022-02-10

Variant appearance in text: ATM: W1805*
PubMed Link: 35145077
Variant Present in the following documents:
  • 41467_2022_28266_MOESM4_ESM.xlsx, sheet 9
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: 5414G>A; Trp1805Ter
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: ATM: 5414G>A; Trp1805Ter
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page