ATM c.3113T>C ;(p.V1038A)

Variant ID: 11-108143294-T-C

NM_000051.3(ATM):c.3113T>C;(p.V1038A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ATM: V1038A
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dalmasso, B B; Pastorino, L L; Nathan, V V; Shah, N N NN; Palmer, J M JM; Howlie, M M; Johansson, P A PA; Freedman, N D ND; Carter, B D BD; Beane-Freeman, L L; Hicks, B B; Molven, A A; Helgadottir, H H; Sankar, A A; Tsao, H H; Stratigos, A J AJ; Helsing, P P; Van Doorn, R R; Gruis, N A NA; Visser, M M; Wadt, K A W KAW; Mann, G G; Holland, E A EA; Nagore, E E; Potrony, M M; Puig, S S; Menin, C C; Peris, K K; Fargnoli, M C MC; Calista, D D; Soufir, N N; Harland, M M; Bishop, T T; Kanetsky, P A PA; Elder, D E DE; Andreotti, V V; Vanni, I I; Bruno, W W; Höiom, V V; Tucker, M A MA; Yang, X R XR; Andresen, P A PA; Adams, D J DJ; Landi, M T MT; Hayward, N K NK; Goldstein, A M AM; Ghiorzo, P P; , ; ,
Publication Date: 2021-11

Variant appearance in text: ATM: 3113T>C; Val1038Ala
PubMed Link: 34262154
Variant Present in the following documents:
  • 41436_2021_1240_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Novel insights into breast cancer genetic variance through RNA sequencing.

Scientific Reports
Horvath, Anelia A; Pakala, Suresh Babu SB; Mudvari, Prakriti P; Reddy, Sirigiri Divijendra Natha SD; Ohshiro, Kazufumi K; Casimiro, Sandra S; Pires, Ricardo R; Fuqua, Suzanne A W SA; Toi, Masakazu M; Costa, Luis L; Nair, Sujit S SS; Sukumar, Saraswati S; Kumar, Rakesh R
Publication Date: 2013

Variant appearance in text: ATM: 3113T>C
PubMed Link: 23884293
Variant Present in the following documents:
  • Main text
View BVdb publication page