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POLE c.4649A>G ;(p.K1550R)
Variant ID: 12-133219485-T-C
NM_006231.2(
POLE
):c.4649A>G;(p.K1550R)
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:
Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.
European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)
Fujitani, Hiroo H; Eguchi, Hidetaka H; Kochi, Yuta Y; Arai, Tomio T; Muramatsu, Masaaki M; Okazaki, Yasushi Y
Publication Date: 2023-03-02
Variant appearance in text: POLE: 4649A>G; Lys1550Arg; rs5744947
PubMed Link:
36896836
Variant Present in the following documents:
ejcp-32-286-s003.pdf
View BVdb publication page
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022
Variant appearance in text: POLE: K1550R
PubMed Link:
35358259
Variant Present in the following documents:
pone.0266112.s001.xlsx, sheet 1
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: 4649A>G; Lys1550Arg; rs5744947
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.
Scientific Reports
Lee, Seung Eun SE; Lee, Hye Seung HS; Kim, Kyoung-Yeon KY; Park, Jung-Hoon JH; Roh, Hanseong H; Park, Ha Young HY; Kim, Wan-Seop WS
Publication Date: 2019-07-29
Variant appearance in text: POLE: K1550R
PubMed Link:
31358837
Variant Present in the following documents:
41598_2019_47439_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page