POLE c.6491G>A ;(p.C2164Y)

Variant ID: 12-133202743-C-T

NM_006231.2(POLE):c.6491G>A;(p.C2164Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pigmented Epithelioid Melanocytomas and Their Mimics; Focus on Their Novel Molecular Findings.

Biology
Bayraktar, Erol C EC; Jour, George G
Publication Date: 2021-12-08

Variant appearance in text: POLE: C2164Y
PubMed Link: 34943205
Variant Present in the following documents:
  • Main text
  • biology-10-01290.pdf
View BVdb publication page



Pigmented Epithelioid Melanocytomas and Their Mimics; Focus on Their Novel Molecular Findings.

Biology
Bayraktar, Erol C EC; Jour, George G
Publication Date: 2021-12-08

Variant appearance in text: POLE: C2164Y
PubMed Link: 34943205
Variant Present in the following documents:
  • Main text
  • biology-10-01290.pdf
View BVdb publication page



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: 6491G>A; C2164Y; rs750401329
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page