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Gene | MSH6 |
Variant | L423I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 L423I lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). L423I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 L423I |
Transcript | NM_000179.3 |
gDNA | chr2:g.47799250C>A |
cDNA | c.1267C>A |
Protein | p.L423I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024452819.1 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
NM_001406803.1 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
NM_001406804.1 | chr2:g.47799328_47799330delCTGinsATC | c.1267_1269delCTGinsATC | p.L423I | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
NM_001406817.1 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47799250C>A | c.1267C>A | p.L423I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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