POLE c.2087C>G ;(p.P696R)

Variant ID: 12-133245028-G-C

NM_006231.2(POLE):c.2087C>G;(p.P696R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.

Bmc Genomics
Demidova, Elena V EV; Serebriiskii, Ilya G IG; Vlasenkova, Ramilia R; Kelow, Simon S; Andrake, Mark D MD; Hartman, Tiffiney R TR; Kent, Tatiana T; Virtucio, James J; Rosen, Gail L GL; Pomerantz, Richard T RT; Dunbrack, Roland L RL; Golemis, Erica A EA; Hall, Michael J MJ; Chen, David Y T DYT; Daly, Mary B MB; Arora, Sanjeevani S
Publication Date: 2023-04-24

Variant appearance in text: POLE: P696R
PubMed Link: 37095444
Variant Present in the following documents:
  • Main text
  • 12864_2023_Article_9310.pdf
  • 12864_2023_9310_MOESM1_ESM.pdf
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: POLE: P696R
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page