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Gene | MSH6 |
Variant | R1095H |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | MSH6 R1095H lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1095H demonstrates DNA mismatch repair activity, expression, and MSH2-interaction ability similar to wild-type Msh6 protein in cell culture (PMID: 24040339, PMID: 21120944, PMID: 12522549). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 R1095H |
Transcript | NM_000179.3 |
gDNA | chr2:g.47803531G>A |
cDNA | c.3284G>A |
Protein | p.R1095H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406796.1 | chr2:g.47803531G>A | c.3284G>A | p.R1095H | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47803531G>A | c.3284G>A | p.R1095H | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47803531G>A | c.3284G>A | p.R1095H | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47803531G>A | c.3284G>A | p.R1095H | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47803531G>A | c.3284G>A | p.R1095H | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47803531G>A | c.3284G>A | p.R1095H | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47803531G>A | c.3284G>A | p.R1095H | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47803531G>A | c.3284G>A | p.R1095H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MSH6 R1095H | no effect |