IDH1 G97D
Gene Variant Detail

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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

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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_005896 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_005896.3 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_001282386.1 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 chr2:g.208248493C>T c.290G>A p.G97D RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

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