IDH1 R132H
Gene Variant Detail

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Gene IDH1
Variant R132H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 R132H lies within the active site of the Idh1 protein (PMID: 19228619). R132H results in decreased conversion of isocitrate to alpha-ketoglutarate by Idh1, but also confers a gain of function to Idh1, as indicated by increased conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture and in vitro assays, and is associated with increased 2HG levels in patient samples (PMID: 19935646, PMID: 23731180).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R132H

IDH1 mutant IDH1 R132X IDH1 R132H

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Transcript NM_005896.4
gDNA chr2:g.208248388C>T
cDNA c.395G>A
Protein p.R132H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005896.4 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_005896 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248388C>T c.395G>A p.R132H RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Protein Effect Treatment Approaches
IDH1 R132H gain of function IDH Inhibitor (Pan) IDH1 Inhibitor IDH1 R132H peptide vaccine PEPIDH1M vaccine
FLT3 D835Y IDH1 R132H
FLT3 exon 14 ins IDH1 R132H
IDH1 R132H IDH1 D279N
IDH1 R132H IDH1 S280F
IDH1 R132H IDH1 H315D
IDH1 R132H IDH2 R140Q
IDH1 R132H IDH1 T313I
IDH1 R132H IDH1 A410T
IDH1 R132H IDH1 L409V
CDKN2A del IDH1 R132H