POLE c.1396A>G ;(p.T466A)

Variant ID: 12-133249827-T-C

NM_006231.2(POLE):c.1396A>G;(p.T466A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers.

Journal For Immunotherapy Of Cancer
Ying, Jieer J; Yang, Lin L; Yin, Jiani C JC; Xia, Guojie G; Xing, Minyan M; Chen, Xiaoxi X; Pang, Jiaohui J; Wu, Yong Y; Bao, Hua H; Wu, Xue X; Shao, Yang Y; Zhu, Lingjun L; Cheng, Xiangdong X
Publication Date: 2021-09

Variant appearance in text: POLE: T466A
PubMed Link: 34479923
Variant Present in the following documents:
  • Main text
  • jitc-2021-002336.pdf
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: 1396A>G; Thr466Ala; rs761765763
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: POLE: T466A
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_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: T466A
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page