POLE c.1426C>T ;(p.P476S)

Variant ID: 12-133249797-G-A

NM_006231.2(POLE):c.1426C>T;(p.P476S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: POLE: 1426C>T; Pro476Ser
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Clinical outcomes of patients with POLE mutated endometrioid endometrial cancer.

Gynecologic Oncology
Stasenko, Marina M; Tunnage, Irina I; Ashley, Charles W CW; Rubinstein, Maria M MM; Latham, Alicia J AJ; Da Cruz Paula, Arnaud A; Mueller, Jennifer J JJ; Leitao, Mario M MM; Friedman, Claire F CF; Makker, Vicky V; Soslow, Robert A RA; DeLair, Deborah F DF; Hyman, David M DM; Zamarin, Dimitriy D; Alektiar, Kaled M KM; Aghajanian, Carol A CA; Abu-Rustum, Nadeem R NR; Weigelt, Britta B; Cadoo, Karen A KA
Publication Date: 2020-01

Variant appearance in text: POLE: P476S
PubMed Link: 31757464
Variant Present in the following documents:
  • Main text
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: P476S
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page