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MSH6 c.611A>C ;(p.E204A)
Variant ID: 2-48023186-A-C
NM_000179.2(
MSH6
):c.611A>C;(p.E204A)
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: E204A
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page
Evolutionary Covariance Combined with Molecular Dynamics Predicts a Framework for Allostery in the MutS DNA Mismatch Repair Protein.
The Journal Of Physical Chemistry. B
Lakhani, Bharat B; Thayer, Kelly M KM; Hingorani, Manju M MM; Beveridge, David L DL
Publication Date: 2017-03-09
Variant appearance in text: MSH6: E204A
PubMed Link:
28135092
Variant Present in the following documents:
Main text
jp6b11976.pdf
View BVdb publication page