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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 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_005896.3 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_001282386.1 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_001282386 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

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 Protein Effect Treatment Approaches
IDH1 S280F no effect - predicted
IDH1 R132C IDH1 S280F
IDH1 R132H IDH1 S280F