POLE c.310T>C ;(p.F104L)

Variant ID: 12-133256784-A-G

NM_006231.2(POLE):c.310T>C;(p.F104L)

This variant was identified in 6 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: F104L
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: F104L
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
View BVdb publication page



Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.

Frontiers In Oncology
Xu, Ting T; Zhang, Yinjie Y; Zhang, Jing J; Qi, Changsong C; Liu, Dan D; Wang, Zhenghang Z; Li, Yanyan Y; Ji, Congcong C; Li, Jian J; Lin, Xuan X; Hou, Ting T; Liu, Hao H; Zhang, Lu L; Han-Zhang, Han H; Shen, Lin L; Wang, Xicheng X
Publication Date: 2020

Variant appearance in text: POLE: F104L
PubMed Link: 33194656
Variant Present in the following documents:
  • DataSheet_3.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: POLE: Phe104Leu
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
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: F104L
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae.

G3 (Bethesda, Md.)
Barbari, Stephanie R SR; Kane, Daniel P DP; Moore, Elizabeth A EA; Shcherbakova, Polina V PV
Publication Date: 2018-03-02

Variant appearance in text: POLE: F104L
PubMed Link: 29352080
Variant Present in the following documents:
  • Main text
  • 1019FileS1.pdf
View BVdb publication page