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MSH6 c.1508C>T ;(p.S503F)
Variant ID: 2-48026630-C-T
NM_000179.2(
MSH6
):c.1508C>T;(p.S503F)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
The Journal Of Biological Chemistry
Mitchell, Conor W CW; Czajewski, Ignacy I; van Aalten, Daan M F DMF
Publication Date: 2022-09
Variant appearance in text: MSH6: S503F
PubMed Link:
35863433
Variant Present in the following documents:
mmc4.xlsx, sheet 6
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: MSH6: 1508C>T; Ser503Phe
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.
Molecular Genetics & Genomic Medicine
Xavier, Alexandre A; Olsen, Maren Fridtjofsen MF; Lavik, Liss A LA; Johansen, Jostein J; Singh, Ashish Kumar AK; Sjursen, Wenche W; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-08
Variant appearance in text: rs63750897
PubMed Link:
31297992
Variant Present in the following documents:
Main text
MGG3-7-e850.pdf
View BVdb publication page
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018
Variant appearance in text: rs63750897
PubMed Link:
29641532
Variant Present in the following documents:
pone.0194098.s003.xlsx, sheet 2
View BVdb publication page
Mutational heterogeneity in non-serous ovarian cancers.
Scientific Reports
Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA
Publication Date: 2017-08-29
Variant appearance in text: rs63750897
PubMed Link:
28852190
Variant Present in the following documents:
41598_2017_10432_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page