POLE c.1231_1232delinsAG ;(p.V411R)

Variant ID: 12-133250288-AC-CT

NM_006231.2(POLE):c.1231_1232delinsAG;(p.V411R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical and Molecular Characterization of POLE Mutations as Predictive Biomarkers of Response to Immune Checkpoint Inhibitors in Advanced Cancers.

Jco Precision Oncology
Garmezy, Benjamin B; Gheeya, Jinesh J; Lin, Heather Y HY; Huang, Yuefan Y; Kim, Taebeom T; Jiang, Xianli X; Thein, Kyaw Z KZ; Pilié, Patrick G PG; Zeineddine, Fadl F; Wang, Wanlin W; Shaw, Kenna R KR; Rodon, Jordi J; Shen, John Paul JP; Yuan, Ying Y; Meric-Bernstam, Funda F; Chen, Ken K; Yap, Timothy A TA
Publication Date: 2022-02

Variant appearance in text: POLE: V411R
PubMed Link: 35108036
Variant Present in the following documents:
  • Main text
  • po-6-e2100267.pdf
View BVdb publication page



Clinical and Molecular Characterization of POLE Mutations as Predictive Biomarkers of Response to Immune Checkpoint Inhibitors in Advanced Cancers.

Jco Precision Oncology
Garmezy, Benjamin B; Gheeya, Jinesh J; Lin, Heather Y HY; Huang, Yuefan Y; Kim, Taebeom T; Jiang, Xianli X; Thein, Kyaw Z KZ; Pilié, Patrick G PG; Zeineddine, Fadl F; Wang, Wanlin W; Shaw, Kenna R KR; Rodon, Jordi J; Shen, John Paul JP; Yuan, Ying Y; Meric-Bernstam, Funda F; Chen, Ken K; Yap, Timothy A TA
Publication Date: 2022-02

Variant appearance in text: POLE: V411R
PubMed Link: 35108036
Variant Present in the following documents:
  • Main text
  • po-6-e2100267.pdf
View BVdb publication page



DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Human Molecular Genetics
Church, David N DN; Briggs, Sarah E W SE; Palles, Claire C; Domingo, Enric E; Kearsey, Stephen J SJ; Grimes, Jonathon M JM; Gorman, Maggie M; Martin, Lynn L; Howarth, Kimberley M KM; Hodgson, Shirley V SV; , ; Kaur, Kulvinder K; Taylor, Jenny J; Tomlinson, Ian P M IP
Publication Date: 2013-07-15

Variant appearance in text: POLE: Val411Arg
PubMed Link: 23528559
Variant Present in the following documents:
  • Main text
  • ddt131.pdf
View BVdb publication page