POLE c.2122C>T ;(p.H708Y)

Variant ID: 12-133244993-G-A

NM_006231.2(POLE):c.2122C>T;(p.H708Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: H708Y
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.

Nature Communications
Gröschel, Stefan S; Hübschmann, Daniel D; Raimondi, Francesco F; Horak, Peter P; Warsow, Gregor G; Fröhlich, Martina M; Klink, Barbara B; Gieldon, Laura L; Hutter, Barbara B; Kleinheinz, Kortine K; Bonekamp, David D; Marschal, Oliver O; Chudasama, Priya P; Mika, Jagoda J; Groth, Marie M; Uhrig, Sebastian S; Krämer, Stephen S; Heining, Christoph C; Heilig, Christoph E CE; Richter, Daniela D; Reisinger, Eva E; Pfütze, Katrin K; Eils, Roland R; Wolf, Stephan S; von Kalle, Christof C; Brandts, Christian C; Scholl, Claudia C; Weichert, Wilko W; Richter, Stephan S; Bauer, Sebastian S; Penzel, Roland R; Schröck, Evelin E; Stenzinger, Albrecht A; Schlenk, Richard F RF; Brors, Benedikt B; Russell, Robert B RB; Glimm, Hanno H; Schlesner, Matthias M; Fröhling, Stefan S
Publication Date: 2019-04-09

Variant appearance in text: POLE: H708Y
PubMed Link: 30967556
Variant Present in the following documents:
  • 41467_2019_9633_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page