POLE c.6105G>C ;(p.Q2035H)

Variant ID: 12-133209281-C-G

NM_006231.2(POLE):c.6105G>C;(p.Q2035H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: Q2035H
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: Q2035H
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
  • CTM2-11-e524-s001.xlsx, sheet 6
View BVdb publication page



Mutations in DNA repair genes are associated with increased neoantigen burden and a distinct immunophenotype in lung squamous cell carcinoma.

Scientific Reports
Chae, Young Kwang YK; Anker, Jonathan F JF; Oh, Michael S MS; Bais, Preeti P; Namburi, Sandeep S; Agte, Sarita S; Giles, Francis J FJ; Chuang, Jeffrey H JH
Publication Date: 2019-03-01

Variant appearance in text: POLE: Q2035H
PubMed Link: 30824826
Variant Present in the following documents:
  • 41598_2019_39594_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page