POLE c.5071C>T ;(p.R1691C)

Variant ID: 12-133218865-G-A

NM_006231.2(POLE):c.5071C>T;(p.R1691C)

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: 5071C>T; R1691C; rs777599909
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology
Li, Peifeng P; Chai, Jia J; Chen, Zi Z; Liu, Yang Y; Wei, Jie J; Liu, Yixiong Y; Zhao, Danhui D; Ma, Jing J; Wang, Kaijing K; Li, Xia X; Shao, Yang Y; Gong, Li L; Zhang, Wei W; Guo, Shuangping S; Yan, Qingguo Q; Li, Mingyang M; Fan, Linni L; Wang, Zhe Z
Publication Date: 2021

Variant appearance in text: POLE: R1691C
PubMed Link: 33747936
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 2
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: R1691C
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page