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Gene IDH1
Variant V178I
Impact List missense
Protein Effect no effect
Gene Variant Descriptions IDH1 V178I does not lie within any known functional domains of the Idh1 protein (UniProt.org). IDH1 V178I retains wild-type Idh1 enzymatic activity, and does not increase 2HG levels in cell culture (PMID: 21996744) and therefore, has no effect on Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 V178I

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Transcript NM_005896.4
gDNA chr2:g.208243593C>T
cDNA c.532G>A
Protein p.V178I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387 chr2:g.208243593C>T c.532G>A p.V178I RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208243593C>T c.532G>A p.V178I RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208243593C>T c.532G>A p.V178I RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208243593C>T c.532G>A p.V178I RefSeq GRCh38/hg38
NM_005896 chr2:g.208243593C>T c.532G>A p.V178I RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208243593C>T c.532G>A p.V178I RefSeq GRCh38/hg38
NM_001282386 chr2:g.208243593C>T c.532G>A p.V178I RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208243593C>T c.532G>A p.V178I RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208243593C>T c.532G>A p.V178I 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