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Gene MSH6
Variant T1284M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 T1284M lies within the ATPase domain of the Msh6 protein (PMID: 17531815). T1284M does not demonstrate reduced mismatch repair activity compared to wild-type protein in an in vitro assay (PMID: 31965077) and leads to subcellular localization similar to wild-type Msh6 in culture (PMID: 22851212), 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 T1284M

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Transcript NM_000179.3
gDNA chr2:g.47806501C>T
cDNA c.3851C>T
Protein p.T1284M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.2 chr2:g.47806501C>T c.3851C>T p.T1284M RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806501C>T c.3851C>T p.T1284M RefSeq GRCh38/hg38
NM_000179 chr2:g.47806501C>T c.3851C>T p.T1284M RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806501C>T c.3851C>T p.T1284M RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806501C>T c.3851C>T p.T1284M RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47806495_47806496delCTinsTG c.3851_3852delCTinsTG p.T1284M RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806501C>T c.3851C>T p.T1284M RefSeq GRCh38/hg38

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