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POLE c.22C>T ;(p.R8W)
Variant ID: 12-133263880-G-A
NM_006231.2(
POLE
):c.22C>T;(p.R8W)
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:
Nodular fasciitis: a comprehensive, time-correlated investigation of 17 cases.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Sápi, Zoltán Z; Lippai, Zoltán Z; Papp, Gergő G; Hegyi, Lajos L; Sápi, Johanna J; Dezső, Katalin K; Szuhai, Károly K
Publication Date: 2021-12
Variant appearance in text: POLE: 22C>T; R8C
PubMed Link:
34381187
Variant Present in the following documents:
41379_2021_883_MOESM1_ESM.pdf
View BVdb publication page
Nodular fasciitis: a comprehensive, time-correlated investigation of 17 cases.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Sápi, Zoltán Z; Lippai, Zoltán Z; Papp, Gergő G; Hegyi, Lajos L; Sápi, Johanna J; Dezső, Katalin K; Szuhai, Károly K
Publication Date: 2021-12
Variant appearance in text: POLE: 22C>T; R8C
PubMed Link:
34381187
Variant Present in the following documents:
41379_2021_883_MOESM1_ESM.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: 22C>T; R8W
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page