Gene Variant Detail

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Gene IDH1
Variant I130M
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH1 I130M does not lie within any known functional domains of the Idh1 protein (UniProt.org). I130M demonstrates isocitrate-dependent NADPH production similar to wild-type Idh1 in in vitro assays and does not result in increased 2HG production (PMID: 21996744), and therefore, is predicted to have no effect on Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 I130M

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Transcript NM_005896.4
gDNA chr2:g.208248393T>C
cDNA c.390A>G
Protein p.I130M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005896 chr2:g.208248393T>C c.390A>G p.I130M RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248393T>C c.390A>G p.I130M RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248393T>C c.390A>G p.I130M RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248393T>C c.390A>G p.I130M RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248393T>C c.390A>G p.I130M RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248393T>C c.390A>G p.I130M RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248393T>C c.390A>G p.I130M RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248393T>C c.390A>G p.I130M RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248393T>C c.390A>G p.I130M 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References