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Gene IDH1
Variant Y139D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 Y139D lies within a site of the Idh1 protein critical for catalysis (UniProt.org). R139D 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 (PMID: 21996744m PMID: 23731180).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 Y139D

IDH1 mutant IDH1 Y139X IDH1 Y139D

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Transcript NM_005896.4
gDNA chr2:g.208245424A>C
cDNA c.415T>G
Protein p.Y139D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387 chr2:g.208245424A>C c.415T>G p.Y139D RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208245424A>C c.415T>G p.Y139D RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208245424A>C c.415T>G p.Y139D RefSeq GRCh38/hg38
NM_005896 chr2:g.208245424A>C c.415T>G p.Y139D RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208245424A>C c.415T>G p.Y139D RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208245424A>C c.415T>G p.Y139D RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208245424A>C c.415T>G p.Y139D RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208245424A>C c.415T>G p.Y139D RefSeq GRCh38/hg38
NM_001282386 chr2:g.208245424A>C c.415T>G p.Y139D 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")

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