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.




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