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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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