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Gene MSH6
Variant S1188N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 S1188N lies within the ATPase domain of the Msh6 protein (PMID: 17531815). S1188N demonstrates deficient mismatch repair activity compared to wild-type protein in an in vitro assay (PMID: 31965077), and therefore, is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 S1188N

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Transcript NM_000179.3
gDNA chr2:g.47805624G>A
cDNA c.3563G>A
Protein p.S1188N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406800.1 chr2:g.47805624G>A c.3563G>A p.S1188N RefSeq GRCh38/hg38
NM_000179 chr2:g.47805624G>A c.3563G>A p.S1188N RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47805624G>A c.3563G>A p.S1188N RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47805624G>A c.3563G>A p.S1188N RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47805624G>A c.3563G>A p.S1188N RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47805624G>A c.3563G>A p.S1188N RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47805624G>A c.3563G>A p.S1188N RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47805624G>A c.3563G>A p.S1188N RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47806293_47806295delTCAinsAAC c.3562_3564delTCAinsAAC p.S1188N RefSeq GRCh38/hg38

Filtering

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  • 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 S1188N loss of function - predicted