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MSH6 c.3958G>C ;(p.A1320P)
Variant ID: 2-48033747-G-C
NM_000179.2(
MSH6
):c.3958G>C;(p.A1320P)
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: 3958G>C; Ala1320Pro
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page
Massive parallel sequencing in a family with rectal cancer.
Hereditary Cancer In Clinical Practice
Wallander, Karin K; Thutkawkorapin, Jessada J; Sahlin, Ellika E; Lindblom, Annika A; Lagerstedt-Robinson, Kristina K
Publication Date: 2021-04-07
Variant appearance in text: MSH6: 3958G>C
PubMed Link:
33827643
Variant Present in the following documents:
13053_2021_Article_181.pdf
View BVdb publication page