IDH1 R132L
Gene Variant Detail

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Gene IDH1
Variant R132L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 R132L lies within the active site of the Idh1 protein (PMID: 19228619). R132L confers a gain of function to Idh1, as indicated by increased conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 19935646, PMID: 21326614).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R132L

IDH1 mutant IDH1 R132X IDH1 R132L

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Transcript NM_005896.4
gDNA chr2:g.208248388C>A
cDNA c.395G>T
Protein p.R132L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_005896 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248388C>A c.395G>T p.R132L 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.
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Molecular Profile Protein Effect Treatment Approaches
IDH1 R132L gain of function IDH Inhibitor (Pan) IDH1 Inhibitor
IDH1 R119P IDH1 R132L IDH2 R140Q
IDH1 R132L IDH2 R140Q
IDH1 R119P IDH1 R132L
ARID1B Q127_Q131del IDH1 R132L