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Gene MSH6
Variant G566R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MSH6 G566R lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). G566R results in subcellular localization similar to wild-type Msh6 in culture (PMID: 22851212), but confers a loss of function to the Msh6 protein as indicated by deficient ATP binding and decreased Msh6 ATPase activity in in vitro assays (PMID: 18790734).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 G566R

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Transcript NM_000179.3
gDNA chr2:g.47799679G>A
cDNA c.1696G>A
Protein p.G566R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47799679G>A c.1696G>A p.G566R RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799679G>A c.1696G>A p.G566R RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799679G>A c.1696G>A p.G566R RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799679G>A c.1696G>A p.G566R RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799679G>A c.1696G>A p.G566R RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799679G>A c.1696G>A p.G566R RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799679G>A c.1696G>A p.G566R RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799679G>A c.1696G>A p.G566R RefSeq GRCh38/hg38
NM_000179 chr2:g.47799679G>A c.1696G>A p.G566R RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799679G>A c.1696G>A p.G566R RefSeq GRCh38/hg38

Filtering

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  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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 G566R loss of function