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Gene IDH1
Variant H315D
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH1 H315D lies within an NADP-binding region of the Idh1 protein (UniProt.org). H315D confers resistance to an IDH1 inhibitor in the presence of IDH1 R132H, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate), and results in cytokine-independent growth and erythroid differentiation similar to wild-type protein in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh1 protein function.
Associated Drug Resistance Y
Category Variants Paths

IDH1 mutant IDH1 H315D

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Transcript NM_005896.4
gDNA chr2:g.208239911G>C
cDNA c.943C>G
Protein p.H315D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386.1 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208239911G>C c.943C>G p.H315D 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries