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POLE c.3501_3502insGGTCAAA ;(p.H1168Gfs*11)
Variant ID: 12-133233802-G-GTTTGACC
NM_006231.2(
POLE
):c.3501_3502insGGTCAAA;(p.H1168Gfs*11)
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:
Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand.
Cancers
Henry, Claire E CE; Phan, Khoi K; Orsman, Elena J EJ; Kenwright, Diane D; Thunders, Michelle C MC; Filoche, Sara K SK
Publication Date: 2021-11-11
Variant appearance in text: POLE: 3501_3502insGGTCAAA
PubMed Link:
34830795
Variant Present in the following documents:
Main text
cancers-13-05641.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: 3501_3502insGGTCAAA; His1168Glyfs
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page