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Gene MSH6
Variant R976H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 R976H lies within the clamp domain of the Msh6 protein (PMID: 18790734). R976H results in decreased Msh6 affinity for ADP and mismatched DNA in cell culture (PMID: 18790734), however, in another study demonstrated proficient mismatch repair activity (PMID: 22102614), and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 R976H

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Transcript NM_000179.3
gDNA chr2:g.47800910G>A
cDNA c.2927G>A
Protein p.R976H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406809.1 chr2:g.47800910G>A c.2927G>A p.R976H RefSeq GRCh38/hg38
NM_000179 chr2:g.47800910G>A c.2927G>A p.R976H RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47800910G>A c.2927G>A p.R976H RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47800903_47800905delAGGinsCAT c.2926_2928delAGGinsCAT p.R976H RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47800910G>A c.2927G>A p.R976H RefSeq GRCh38/hg38
XM_024452822.1 chr2:g.47806390_47806391delGGinsAT c.2927_2928delGGinsAT p.R976H RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47800910G>A c.2927G>A p.R976H RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47800910G>A c.2927G>A p.R976H RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47800910G>A c.2927G>A p.R976H RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47800910G>A c.2927G>A p.R976H RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47800910G>A c.2927G>A p.R976H RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
MSH6 R976H unknown