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Gene IDH2
Variant D76fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions IDH2 D76fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 76 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the substrate binding region and sites critical for catalysis (UniProt.org), D76fs is predicted to lead to a loss of Idh2 protein function.
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 inact mut IDH2 D76fs

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Transcript NM_002168.4
gDNA chr15:g.(90090626_90090627)
cDNA c.(226_225)
Protein p.D76fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.3 chr15:g.(90090626_90090627) c.(226_225) p.D76fs RefSeq GRCh38/hg38
NM_002168.4 chr15:g.(90090626_90090627) c.(226_225) p.D76fs RefSeq GRCh38/hg38
NM_002168 chr15:g.(90090626_90090627) c.(226_225) p.D76fs 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 )
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  • 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
IDH2 D76fs acute myeloid leukemia sensitive Venetoclax Case Reports/Case Series Actionable In a Phase II trial, an acute myeloid leukemia patient harboring IDH2 D76fs demonstrated sensitivity to treatment with Venclexta (venetoclax), achieving a complete response with incomplete blood count recovery after 24 weeks (PMID: 27520294). 27520294