MSH6 G1139S - Gene Variant Detail

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Gene MSH6
Variant G1139S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MSH6 G1139S lies within the ATPase domain of the Msh6 protein (PMID: 17531815). G1139S (corresponds to G1137S in mouse) 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 reduced mismatch binding and impaired ATP binding (PMID: 31965077), defective mismatch repair activity in in vitro assays (PMID: 22102614, PMID: 31965077), elevated microsatellite instability, and impaired DNA damage response in mouse cells (PMID: 24040339).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 G1139S

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Transcript NM_000179.3
gDNA chr2:g.47803662G>A
cDNA c.3415G>A
Protein p.G1139S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.47803662G>A c.3415G>A p.G1139S RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47803662G>A c.3415G>A p.G1139S RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47803662G>A c.3415G>A p.G1139S RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47803662G>A c.3415G>A p.G1139S RefSeq GRCh38/hg38
NM_000179 chr2:g.47803662G>A c.3415G>A p.G1139S RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47803662G>A c.3415G>A p.G1139S RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47803662G>A c.3415G>A p.G1139S RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47803662G>A c.3415G>A p.G1139S 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 )
  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References