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MSH6 c.3963A>T ;(p.R1321S)
Variant ID: 2-48033752-A-T
NM_000179.2(
MSH6
):c.3963A>T;(p.R1321S)
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:
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: MSH6: 3963A>T; Arg1321Ser; rs267608125
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.
The Ulster Medical Journal
Devlin, Lisa A LA; Graham, Colin A CA; Price, John H JH; Morrison, Patrick J PJ
Publication Date: 2008-01
Variant appearance in text: MSH6: 3963A>T; Arg1321Ser
PubMed Link:
18269114
Variant Present in the following documents:
Main text
umj7701-025.pdf
View BVdb publication page