POLE c.4643C>T ;(p.P1548L)

Variant ID: 12-133219491-G-A

NM_006231.2(POLE):c.4643C>T;(p.P1548L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: P1548L
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
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: P1548L
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.

Human Genomics
Yi, Dandan D; Xu, Lei L; Luo, Jiaqi J; You, Xiaobin X; Huang, Tao T; Zi, Yi Y; Li, Xiaoting X; Wang, Ru R; Zhong, Zaixuan Z; Tang, Xiaoqiao X; Li, Ang A; Shi, Yujian Y; Rao, Jianmei J; Zhang, Yifen Y; Sang, Jianfeng J
Publication Date: 2019-01-10

Variant appearance in text: POLE: 4643C>T; Pro1548Leu
PubMed Link: 30630526
Variant Present in the following documents:
  • 40246_2018_186_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page