POLE c.836C>T ;(p.T279I)

Variant ID: 12-133253205-G-A

NM_006231.2(POLE):c.836C>T;(p.T279I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 836C>T; Thr279Ile; rs753262710
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Cancer Medicine
Stenzinger, Albrecht A; Pfarr, Nicole N; Endris, Volker V; Penzel, Roland R; Jansen, Lina L; Wolf, Thomas T; Herpel, Esther E; Warth, Arne A; Klauschen, Frederick F; Kloor, Matthias M; Roth, Wilfried W; Bläker, Hendrik H; Chang-Claude, Jenny J; Brenner, Hermann H; Hoffmeister, Michael M; Weichert, Wilko W
Publication Date: 2014-12

Variant appearance in text: POLE: 836C>T; T279I
PubMed Link: 25124163
Variant Present in the following documents:
  • Main text
  • cam40003-1527.pdf
View BVdb publication page