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POLE c.1107G>A ;(p.W369*)
Variant ID: 12-133252103-C-T
NM_006231.2(
POLE
):c.1107G>A;(p.W369*)
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:
Utility of molecular subtypes and genetic alterations for evaluating clinical outcomes in 1029 patients with endometrial cancer.
British Journal Of Cancer
Asami, Yuka Y; Kobayashi Kato, Mayumi M; Hiranuma, Kengo K; Matsuda, Maiko M; Shimada, Yoko Y; Ishikawa, Mitsuya M; Koyama, Takafumi T; Komatsu, Masaaki M; Hamamoto, Ryuji R; Nagashima, Minoru M; Terao, Yasuhisa Y; Itakura, Atsuo A; Kohno, Takashi T; Sekizawa, Akihiko A; Matsumoto, Koji K; Kato, Tomoyasu T; Shiraishi, Kouya K; Yoshida, Hiroshi H
Publication Date: 2023-02-16
Variant appearance in text: POLE: W369*
PubMed Link:
36797358
Variant Present in the following documents:
Main text
41416_2023_Article_2203.pdf
41416_2023_2203_MOESM1_ESM.pdf
View BVdb publication page
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: W369*
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: 1107G>A; W369X
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page