PIK3CA c.1895T>G ;(p.L632*)

Variant ID: 3-178937507-T-G

NM_006218.2(PIK3CA):c.1895T>G;(p.L632*)

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: PIK3CA: 1895T>G; Leu632Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

American Journal Of Human Genetics
Orloff, Mohammed S MS; He, Xin X; Peterson, Charissa C; Chen, Fusong F; Chen, Jin-Lian JL; Mester, Jessica L JL; Eng, Charis C
Publication Date: 2013-01-10

Variant appearance in text: PIK3CA: 1895T>G
PubMed Link: 23246288
Variant Present in the following documents:
  • Main text
View BVdb publication page