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Gene IDH1
Variant S280F
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH1 S280F does not lie within any known functional domains of the Idh1 protein (UniProt.org). S280F confers resistance to an IDH1 inhibitor in the presence of IDH1 R132C/H (PMID: 29950729, PMID: 32380538, PMID: 36222845), but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) 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 S280F

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Transcript NM_005896.4
gDNA chr2:g.208242005G>A
cDNA c.839C>T
Protein p.S280F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005896.3 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_005896 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282387 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282386 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38

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