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Gene MSH6
Variant K854M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 K854M lies within the lever domain of the Msh6 protein (PMID: 18790734). K854M 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 K854M

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Transcript NM_000179.3
gDNA chr2:g.47800544A>T
cDNA c.2561A>T
Protein p.K854M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47800544A>T c.2561A>T p.K854M RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47800544A>T c.2561A>T p.K854M RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47800544A>T c.2561A>T p.K854M RefSeq GRCh38/hg38
NM_000179 chr2:g.47800544A>T c.2561A>T p.K854M RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47800544A>T c.2561A>T p.K854M RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47800544A>T c.2561A>T p.K854M RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47800544A>T c.2561A>T p.K854M RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47800544A>T c.2561A>T p.K854M RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47800538A>T c.2561A>T p.K854M RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47800544A>T c.2561A>T p.K854M 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")

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