POLE c.3147G>T ;(p.Q1049H)

Variant ID: 12-133236009-C-A

NM_006231.2(POLE):c.3147G>T;(p.Q1049H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: POLE: 3147G>T; Q1049H
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: POLE: 3147G>T; Q1049H
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology
León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB
Publication Date: 2020-03

Variant appearance in text: POLE: 3147G>T; Q1049H
PubMed Link: 31829442
Variant Present in the following documents:
  • Main text
  • PATH-250-323.pdf
  • PATH-250-323-s002.xlsx, sheet 2
View BVdb publication page



Tumor genomic alterations in severe-combined immunodeficiency bare-lymphocyte syndrome genes are associated with high mutational burden and disproportional neo-antigen rates.

Journal For Immunotherapy Of Cancer
Wang, Yu Y; Johnson, Douglas B DB; Lu, Steve S; Diaz, Luis A LA; Xu, Yaomin Y; Balko, Justin M JM
Publication Date: 2019-05-07

Variant appearance in text: POLE: Q1049H
PubMed Link: 31064401
Variant Present in the following documents:
  • 40425_2019_584_MOESM3_ESM.xls, sheet 4
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: POLE: Q1049H
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page