Gene Variant Detail

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Gene IDH2
Variant H348Q
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH2 H348Q does not lie within any known functional domains of the Idh2 protein (UniProt.org). H348Q confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function.
Associated Drug Resistance Y
Category Variants Paths

IDH2 mutant IDH2 H348Q

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Transcript NM_002168.4
gDNA chr15:g.90085311A>T
cDNA c.1044T>A
Protein p.H348Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.4 chr15:g.90085311A>T c.1044T>A p.H348Q RefSeq GRCh38/hg38
NM_002168 chr15:g.90085311A>T c.1044T>A p.H348Q RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90085311A>T c.1044T>A p.H348Q 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
IDH2 H348Q no effect - predicted
IDH2 R140Q IDH2 H348Q