IDH1 R132Q
Gene Variant Detail

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Gene IDH1
Variant R132Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 R132Q lies within the active site of the Idh1 protein (PMID: 19228619). R132Q 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: 30249606, PMID: 28330869).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R132Q

IDH1 mutant IDH1 R132X IDH1 R132Q

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Transcript NM_005896.4
gDNA chr2:g.208248387_208248388delGTinsAA
cDNA c.395_396delGTinsAA
Protein p.R132Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386.1 chr2:g.208248387_208248388delGTinsAA c.395_396delGTinsAA p.R132Q RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248387_208248388delGTinsAA c.395_396delGTinsAA p.R132Q RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248387_208248388delGTinsAA c.395_396delGTinsAA p.R132Q 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries