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Gene | IDH1 |
Variant | G97D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | IDH1 G97D lies within the substrate binding region of the Idh1 protein (UniProt.org). G97D results confers a gain of function to Idh1, as indicated by production of the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 21996744, PMID: 27824159, PMID: 22442146). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 act mut IDH1 G97D IDH1 mutant IDH1 G97X IDH1 G97D |
Transcript | NM_005896.4 |
gDNA | chr2:g.208248493C>T |
cDNA | c.290G>A |
Protein | p.G97D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282387.1 | chr2:g.208248493C>T | c.290G>A | p.G97D | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208248493C>T | c.290G>A | p.G97D | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248493C>T | c.290G>A | p.G97D | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208248493C>T | c.290G>A | p.G97D | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248493C>T | c.290G>A | p.G97D | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248493C>T | c.290G>A | p.G97D | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208248493C>T | c.290G>A | p.G97D | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208248493C>T | c.290G>A | p.G97D | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208248493C>T | c.290G>A | p.G97D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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