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Gene IDH1
Variant A134D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions IDH1 A134D does not lie within any known functional domains of the Idh1 protein (UniProt.org). A134D results in a loss of isocitrate catalytic activity in the Idh1 protein (PMID: 20702649, PMID: 21996744).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 inact mut IDH1 A134D

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Transcript NM_005896.4
gDNA chr2:g.208248382G>T
cDNA c.401C>A
Protein p.A134D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386.1 chr2:g.208248382G>T c.401C>A p.A134D RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248382G>T c.401C>A p.A134D RefSeq GRCh38/hg38
NM_005896 chr2:g.208248382G>T c.401C>A p.A134D RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248382G>T c.401C>A p.A134D RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248382G>T c.401C>A p.A134D RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248382G>T c.401C>A p.A134D RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248382G>T c.401C>A p.A134D RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248382G>T c.401C>A p.A134D RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248382G>T c.401C>A p.A134D 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References