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POLE c.1303G>A ;(p.D435N)
Variant ID: 12-133250217-C-T
NM_006231.2(
POLE
):c.1303G>A;(p.D435N)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinicopathological and molecular characterization of high-grade endometrial carcinoma with POLE mutation: a single center study.
Journal Of Gynecologic Oncology
Yu, Shuangni S; Sun, Zezheng Z; Zong, Liju L; Yan, Jie J; Yu, Mei M; Chen, Jie J; Lu, Zhaohui Z
Publication Date: 2022-05
Variant appearance in text: POLE: D435N
PubMed Link:
35320887
Variant Present in the following documents:
jgo-33-e38-s001.xls, sheet 1
View BVdb publication page
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01
Variant appearance in text: POLE: D435N
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: D435N
PubMed Link:
34586735
Variant Present in the following documents:
CTM2-11-e524-s001.xlsx, sheet 2
View BVdb publication page
Multi-site tumor sampling highlights molecular intra-tumor heterogeneity in malignant pleural mesothelioma.
Genome Medicine
Meiller, Clément C; Montagne, François F; Hirsch, Theo Z TZ; Caruso, Stefano S; de Wolf, Julien J; Bayard, Quentin Q; Assié, Jean-Baptiste JB; Meunier, Léa L; Blum, Yuna Y; Quetel, Lisa L; Gibault, Laure L; Pintilie, Ecaterina E; Badoual, Cécile C; Humez, Sarah S; Galateau-Sallé, Françoise F; Copin, Marie-Christine MC; Letouzé, Eric E; Scherpereel, Arnaud A; Zucman-Rossi, Jessica J; Le Pimpec-Barthes, Françoise F; Jaurand, Marie-Claude MC; Jean, Didier D
Publication Date: 2021-07-14
Variant appearance in text: POLE: 1303G>A; Asp435Asn
PubMed Link:
34261524
Variant Present in the following documents:
13073_2021_931_MOESM1_ESM.xlsx, sheet 5
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: 1303G>A; Asp435Asn
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page