Gene Variant Detail

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Gene IDH1
Variant R100A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions IDH1 R100A lies within the substrate binding region of the Idh1 protein (UniProt.org). R100A results in decreased binding and catalysis of isocitrate by Idh1, reduced isocitrate-dependent NADPH production (PMID: 21996744, PMID: 20975740), and increased production of the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 21996744), and therefore, is predicted to lead to a gain of Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R100A

IDH1 mutant IDH1 R100X IDH1 R100A

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Transcript NM_005896.4
gDNA chr2:g.208248484_208248485delCGinsGC
cDNA c.298_299delCGinsGC
Protein p.R100A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_005896 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References