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Gene MSH6
Variant G881delinsKS
Impact List indel
Protein Effect no effect - predicted
Gene Variant Descriptions MSH6 G881delinsKS results in a deletion of glycine (G) at amino acid 881 within the lever domain of the Msh6 protein, combined with the insertion of a lysine (K) and a serine (S) at the same site (PMID: 17531815). G881delinsKS results in dimerization with Msh2 similar to wild-type Msh6 in cultured cells and complements mismatch repair activity in Msh6-deficient cells (PMID: 15354210), and therefore, is predicted to have no effect on Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 G881delinsKS

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Transcript NM_000179.3
gDNA chr2:g.47800624_47800626delinsAAGAGC
cDNA c.2641_2643delinsAAGAGC
Protein p.G881_881delinsKS
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406808.1 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881delinsKS RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47800624_47800626delinsAAGAGC c.2641_2643delinsAAGAGC p.G881_881delinsKS 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries