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Gene MSH6
Variant G289D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 G289D does not lie within any known functional domains of the Msh6 protein (UniProt.org). G289D 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 G289D

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Transcript NM_000179.3
gDNA chr2:g.47798849G>A
cDNA c.866G>A
Protein p.G289D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47798849G>A c.866G>A p.G289D RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47798849G>A c.866G>A p.G289D RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47798849G>A c.866G>A p.G289D RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47798849G>A c.866G>A p.G289D RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47798849G>A c.866G>A p.G289D RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47798849G>A c.866G>A p.G289D RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47798849G>A c.866G>A p.G289D RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47798849G>A c.866G>A p.G289D RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47798849G>A c.866G>A p.G289D RefSeq GRCh38/hg38
NM_000179 chr2:g.47798849G>A c.866G>A p.G289D RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47798849G>A c.866G>A p.G289D 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.
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries