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MSH6 c.565_566delinsGC ;(p.K189A)
Variant ID: 2-48023140-AA-GC
NM_000179.2(
MSH6
):c.565_566delinsGC;(p.K189A)
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: K189A
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Saccharomyces cerevisiae MSH2-MSH3 and MSH2-MSH6 complexes display distinct requirements for DNA binding domain I in mismatch recognition.
Journal Of Molecular Biology
Lee, Susan D SD; Surtees, Jennifer A JA; Alani, Eric E
Publication Date: 2007-02-09
Variant appearance in text: MSH6: K189A
PubMed Link:
17157869
Variant Present in the following documents:
Main text
View BVdb publication page