POLE c.6623del ;(p.Q2208Rfs*4)

Variant ID: 12-133202265-CT-C

NM_006231.2(POLE):c.6623del;(p.Q2208Rfs*4)

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: 6623delA; Gln2208Argfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice
Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S
Publication Date: 2019

Variant appearance in text: POLE: 6623del; Gln2208Argfs*4
PubMed Link: 30680046
Variant Present in the following documents:
  • Main text
  • 13053_2018_Article_102.pdf
  • 13053_2018_102_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page