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POLE c.4877G>A ;(p.R1626H)
Variant ID: 12-133219167-C-T
NM_006231.2(
POLE
):c.4877G>A;(p.R1626H)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.
Clinical And Translational Medicine
Chen, Yan-Xing YX; Wang, Zi-Xian ZX; Yuan, Shu-Qiang SQ; Jiang, Teng-Jia TJ; Huang, You-Sheng YS; Xu, Rui-Hua RH; Wang, Feng F; Zhao, Qi Q
Publication Date: 2021-09
Variant appearance in text: POLE: R1626H
PubMed Link:
34586735
Variant Present in the following documents:
CTM2-11-e524-s001.xlsx, sheet 2
View BVdb publication page
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: 4877G>A; Arg1626His
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Clinicopathological and mutational analyses of colorectal cancer with mutations in the POLE gene.
Cancer Medicine
Hino, Hitoshi H; Shiomi, Akio A; Kusuhara, Masatoshi M; Kagawa, Hiroyasu H; Yamakawa, Yushi Y; Hatakeyama, Keiichi K; Kawabata, Takanori T; Oishi, Takuma T; Urakami, Kenichi K; Nagashima, Takeshi T; Kinugasa, Yusuke Y; Yamaguchi, Ken K
Publication Date: 2019-08
Variant appearance in text: POLE: R1626H
PubMed Link:
31240875
Variant Present in the following documents:
Main text
CAM4-8-4587.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: R1626H
PubMed Link:
31034466
Variant Present in the following documents:
pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page