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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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