IDH1 R132X - Gene Variant Detail

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Gene IDH1
Variant R132X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH1 R132X indicates any Idh1 missense mutation that results in the replacement of the arginine (R) at amino acid 132 by a different amino acid. R132 variants are hotspot mutations in Idh1, which often results in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 19935646, PMID: 28330869, PMID: 21326614).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 R132X

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Transcript NM_005896.4
gDNA chr2:g.208248387_208248389
cDNA c.394_396
Protein p.R132
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386.1 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_005896 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248387_208248389 c.394_396 p.R132 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 Protein Effect Treatment Approaches
IDH1 R132X unknown IDH Inhibitor (Pan) IDH1 Inhibitor