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Gene MSH6
Variant K295R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 K295R does not lie within any known functional domains of the Msh6 protein (UniProt.org). K295R results in nuclear localization similar to wild-type Msh6 in cultured cells (PMID: 21437237), 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 K295R

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Transcript NM_000179.3
gDNA chr2:g.47798867A>G
cDNA c.884A>G
Protein p.K295R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.2 chr2:g.47798867A>G c.884A>G p.K295R RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47798867A>G c.884A>G p.K295R RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47798867A>G c.884A>G p.K295R RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47798867A>G c.884A>G p.K295R RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47798867A>G c.884A>G p.K295R RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47798867A>G c.884A>G p.K295R RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47798867A>G c.884A>G p.K295R RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47798867A>G c.884A>G p.K295R RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47798867A>G c.884A>G p.K295R RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47798867A>G c.884A>G p.K295R 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References