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MSH6 c.3499C>T ;(p.L1167F)
Variant ID: 2-48032109-C-T
NM_000179.2(
MSH6
):c.3499C>T;(p.L1167F)
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: 3499C>T; Leu1167Phe
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Alteration of DNA mismatch repair capacity underlying the co-occurrence of non-small-cell lung cancer and nonmedullary thyroid cancer.
Scientific Reports
Fujita, Shiro S; Masago, Katsuhiro K
Publication Date: 2021-02-11
Variant appearance in text: MSH6: 3499C>T; Leu1167Phe
PubMed Link:
33574476
Variant Present in the following documents:
Main text
41598_2021_Article_83177.pdf
View BVdb publication page