BRCA2 c.3001del ;(p.S1001Qfs*42)

Variant ID: 13-32911490-AT-A

NM_000059.3(BRCA2):c.3001del;(p.S1001Qfs*42)

This variant was identified in 2 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: BRCA2: 3001del; Ser1001fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Novel Insights From the Germline Landscape of Breast Cancer in Brazil.

Frontiers In Oncology
Barbalho, Daniel D; Sandoval, Renata R; Santos, Erika E; Pisani, Janina J; Quirino, Carla C; Garicochea, Bernardo B; Rossi, Benedito B; Achatz, Maria Isabel MI
Publication Date: 2021

Variant appearance in text: BRCA2: 2999del
PubMed Link: 35155181
Variant Present in the following documents:
  • fonc-11-743231.pdf
View BVdb publication page