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Gene | MSH6 |
Variant | S884T |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MSH6 S884T lies within the lever domain of the Msh6 protein (PMID: 17531815). S884T (corresponds to S881T in mouse) results in similar ATP binding to wild-type protein, but demonstrates decreased mismatch binding and reduced mismatch repair activity in in vitro assays (PMID: 31965077), and therefore, is predicted to lead to a loss of Msh6 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 inact mut MSH6 S884T |
Transcript | NM_000179.3 |
gDNA | chr2:g.47800633T>A |
cDNA | c.2650T>A |
Protein | p.S884T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000179.2 | chr2:g.47800633T>A | c.2650T>A | p.S884T | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47800633T>A | c.2650T>A | p.S884T | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47800633T>A | c.2650T>A | p.S884T | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47800633T>A | c.2650T>A | p.S884T | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47800633T>A | c.2650T>A | p.S884T | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47800633T>A | c.2650T>A | p.S884T | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47800633T>A | c.2650T>A | p.S884T | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47800633T>A | c.2650T>A | p.S884T | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47800633T>A | c.2650T>A | p.S884T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MSH6 S884T | loss of function - predicted |