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Gene | MSH6 |
Variant | P1087R |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | MSH6 P1087R lies within the ATPase domain of the Msh6 protein (PMID: 17531815). P1087R demonstrates binding to Msh2, in vitro mismatch repair activity (PMID: 12019211, PMID: 21120944), and subcellular localization similar to wild-type Msh6 in culture (PMID: 22851212). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 P1087R |
Transcript | NM_000179.3 |
gDNA | chr2:g.47803507C>G |
cDNA | c.3260C>G |
Protein | p.P1087R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000179 | chr2:g.47803507C>G | c.3260C>G | p.P1087R | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47803507C>G | c.3260C>G | p.P1087R | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47803507C>G | c.3260C>G | p.P1087R | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47803507C>G | c.3260C>G | p.P1087R | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47803507C>G | c.3260C>G | p.P1087R | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47803507C>G | c.3260C>G | p.P1087R | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47803507C>G | c.3260C>G | p.P1087R | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47803507C>G | c.3260C>G | p.P1087R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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