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Gene MSH6
Variant W142*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 W142* results in a premature truncation of the Msh6 protein at amino acid 142 of 1360 (UniProt.org). W142* has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and therefore, is predicted to result in a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 W142*

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Transcript NM_000179.3
gDNA chr2:g.47791091G>A
cDNA c.425G>A
Protein p.W142*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407362.1 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_000179 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47791091G>A c.425G>A p.W142* RefSeq GRCh38/hg38

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