POLE c.5516G>T ;(p.R1839L)

Variant ID: 12-133215747-C-A

NM_006231.2(POLE):c.5516G>T;(p.R1839L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: POLE: R1839L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: R1839L
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.

Nature Communications
Roberti, Annalisa A; Dobay, Maria Pamela MP; Bisig, Bettina B; Vallois, David D; Boéchat, Cloé C; Lanitis, Evripidis E; Bouchindhomme, Brigitte B; Parrens, Marie-Cécile MC; Bossard, Céline C; Quintanilla-Martinez, Leticia L; Missiaglia, Edoardo E; Gaulard, Philippe P; de Leval, Laurence L
Publication Date: 2016-09-07

Variant appearance in text: POLE: R1839L
PubMed Link: 27600764
Variant Present in the following documents:
  • ncomms12602-s2.xlsx, sheet 1
View BVdb publication page