Gene Variant Detail

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Gene IDH1
Variant R132V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH1 R132V lies within the active site of the Idh1 protein (PMID: 19228619). R132V has been identified in the scientific literature (PMID: 28330869, PMID: 26189213, PMID: 18985363), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Dec 2022).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 R132X IDH1 R132V

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Transcript NM_005896.3
gDNA chr2:g.208248388_208248389delCGinsGT
cDNA c.394_395delCGinsGT
Protein p.R132V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005896 chr2:g.208248388_208248389delCGinsAC c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248388_208248389delCGinsGT c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248388_208248389delCGinsAC c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248388_208248389delCGinsAC c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248388_208248389delCGinsGT c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248388_208248389delCGinsGT c.394_395delCGinsGT p.R132V 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References