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Gene | MSH6 |
Variant | D422G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 D422G lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). D422G has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 D422G |
Transcript | NM_000179.3 |
gDNA | chr2:g.47799248A>G |
cDNA | c.1265A>G |
Protein | p.D422G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406796.1 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_001406802.1 | chr2:g.47799152A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_001406817.1 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_001406803.1 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_001407362.1 | chr2:g.47803567A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_001406795.1 | chr2:g.47799152A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47799248A>G | c.1265A>G | p.D422G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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