IDH1 R132C
Gene Variant Detail

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Gene IDH1
Variant R132C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 R132C lies within the active site of the Idh1 protein (PMID: 19228619). R132C confers a gain of function to Idh1 as indicated by conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate in culture (PMID: 19935646, PMID: 26161668, PMID: 22885298).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R132C

IDH1 mutant IDH1 R132X IDH1 R132C

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Transcript NM_005896.4
gDNA chr2:g.208248389G>A
cDNA c.394C>T
Protein p.R132C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_005896 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248389G>A c.394C>T p.R132C 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 R132C gain of function IDH Inhibitor (Pan) IDH1 Inhibitor
IDH1 R132C IDH1 S280F
IDH1 R132C IDH2 R172K
IDH1 R132C IDH1 D279N
IDH1 R132C IDH1 D279N IDH2 R140Q
IDH1 G131A IDH1 R132C
IDH1 R132C IDH1 D279N IDH1 H315D
IDH1 R132C IDH2 R140Q
IDH1 R132C IDH1 T313I
BRAF V600E IDH1 R132C