POLE c.4871G>A ;(p.W1624*)

Variant ID: 12-133219173-C-T

NM_006231.2(POLE):c.4871G>A;(p.W1624*)

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: W1624X
PubMed Link: 37095444
Variant Present in the following documents:
  • Main text
  • 12864_2023_9310_MOESM1_ESM.pdf
  • 12864_2023_Article_9310.pdf
View BVdb publication page



The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.

Bmc Urology
Yang, Yong Y; Zhang, Guoying G; Hu, Chen C; Luo, Wei W; Jiang, Haiyang H; Liu, Shaoyou S; Yang, Hong H
Publication Date: 2022-11-30

Variant appearance in text: POLE: W1624*
PubMed Link: 36451132
Variant Present in the following documents:
  • Main text
  • 12894_2022_Article_1141.pdf
View BVdb publication page