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POLE c.375G>T ;(p.Q125H)
Variant ID: 12-133256588-C-A
NM_006231.2(
POLE
):c.375G>T;(p.Q125H)
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:
Ultra-mutated colorectal cancer patients with POLE driver mutations exhibit distinct clinical patterns.
Cancer Medicine
Hu, Hanguang H; Cai, Wen W; Wu, Dehao D; Hu, Wangxiong W; Dong Wang, Li L; Mao, Jianshan J; Zheng, Shu S; Ge, Weiting W
Publication Date: 2021-01
Variant appearance in text: POLE: Q125H
PubMed Link:
33125191
Variant Present in the following documents:
Main text
CAM4-10-135.pdf
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: Q125H
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: Q125H
PubMed Link:
31034466
Variant Present in the following documents:
pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page