POLE c.1861C>T ;(p.L621F)

Variant ID: 12-133245459-G-A

NM_006231.2(POLE):c.1861C>T;(p.L621F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Polymerase Epsilon-Associated Ultramutagenesis in Cancer.

Cancers
Xing, XuanXuan X; Jin, Ning N; Wang, Jing J
Publication Date: 2022-03-12

Variant appearance in text: POLE: L621F
PubMed Link: 35326618
Variant Present in the following documents:
  • Main text
  • cancers-14-01467.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: 1861C>T; Leu621Phe
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



DNA polymerase ε relies on a unique domain for efficient replisome assembly and strand synthesis.

Nature Communications
Meng, Xiangzhou X; Wei, Lei L; Devbhandari, Sujan S; Zhang, Tuo T; Xiang, Jenny J; Remus, Dirk D; Zhao, Xiaolan X
Publication Date: 2020-05-15

Variant appearance in text: POLE: L621F
PubMed Link: 32415104
Variant Present in the following documents:
  • Main text
  • 41467_2020_16095_MOESM1_ESM.pdf
  • 41467_2020_Article_16095.pdf
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: L621F
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF
Publication Date: 2016-07-10

Variant appearance in text: POLE: 1861C>T; L621F
PubMed Link: 27161972
Variant Present in the following documents:
  • supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1
View BVdb publication page