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Gene | MSH6 |
Variant | R383G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 R383G lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). R383G 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 R383G |
Transcript | NM_000179.3 |
gDNA | chr2:g.47799130A>G |
cDNA | c.1147A>G |
Protein | p.R383G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406825.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406827.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406803.1 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406821.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406797.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406819.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406830.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406824.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406818.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001407362.1 | chr2:g.47803449C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406822.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
XM_011532799 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406820.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406805.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406817.1 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406801.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
XM_024452821.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47799130A>G | c.1147A>G | p.R383G | RefSeq | GRCh38/hg38 |
NM_001406828.1 | chr2:g.47799427C>G | c.1147C>G | p.R383G | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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