POLE c.1165T>G ;(p.F389V)

Variant ID: 12-133252045-A-C

NM_006231.2(POLE):c.1165T>G;(p.F389V)

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: POLE: 1165T>G; Phe389Val
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

Cold Spring Harbor Molecular Case Studies
Schuh, Anna A; Dreau, Helene H; Knight, Samantha J L SJL; Ridout, Kate K; Mizani, Tuba T; Vavoulis, Dimitris D; Colling, Richard R; Antoniou, Pavlos P; Kvikstad, Erika M EM; Pentony, Melissa M MM; Hamblin, Angela A; Protheroe, Andrew A; Parton, Marina M; Shah, Ketan A KA; Orosz, Zsolt Z; Athanasou, Nick N; Hassan, Bass B; Flanagan, Adrienne M AM; Ahmed, Ahmed A; Winter, Stuart S; Harris, Adrian A; Tomlinson, Ian I; Popitsch, Niko N; Church, David D; Taylor, Jenny C JC
Publication Date: 2018-04

Variant appearance in text: POLE: 1165T>G; Phe389Val
PubMed Link: 29610388
Variant Present in the following documents:
  • Main text
  • MCS002279Sch.pdf
View BVdb publication page