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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 |
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_001406796.1 | 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_001406808.1 | 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_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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MSH6 G881delinsKS | no effect - predicted |