POLE c.1218C>G ;(p.D406E)

Variant ID: 12-133251992-G-C

NM_006231.2(POLE):c.1218C>G;(p.D406E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology
León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB
Publication Date: 2020-03

Variant appearance in text: POLE: 1218C>G; D406E
PubMed Link: 31829442
Variant Present in the following documents:
  • PATH-250-323-s002.xlsx, sheet 2
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: D406E
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

European Journal Of Human Genetics : Ejhg
Jansen, Anne Ml AM; van Wezel, Tom T; van den Akker, Brendy Ewm BE; Ventayol Garcia, Marina M; Ruano, Dina D; Tops, Carli Mj CM; Wagner, Anja A; Letteboer, Tom Gw TG; Gómez-García, Encarna B EB; Devilee, Peter P; Wijnen, Juul T JT; Hes, Frederik J FJ; Morreau, Hans H
Publication Date: 2016-07

Variant appearance in text: POLE: 1218C>G
PubMed Link: 26648449
Variant Present in the following documents:
  • Main text
  • ejhg2015252x3.xlsx, sheet 1
  • ejhg2015252x2.xlsx, sheet 1
View BVdb publication page