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Gene MSH6
Variant S1340G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S1340G lies within the ATPase domain of the Msh6 protein (PMID: 17531815). S1340G does not demonstrate reduced mismatch repair activity compared to wild-type protein in an in vitro assay (PMID: 31965077), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 S1340G

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Transcript NM_000179.3
gDNA chr2:g.47806795A>G
cDNA c.4018A>G
Protein p.S1340G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.2 chr2:g.47806795A>G c.4018A>G p.S1340G RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806795A>G c.4018A>G p.S1340G RefSeq GRCh38/hg38
NM_000179 chr2:g.47806795A>G c.4018A>G p.S1340G RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806795A>G c.4018A>G p.S1340G RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806795A>G c.4018A>G p.S1340G RefSeq GRCh38/hg38

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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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References