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Gene IDH2
Variant A47V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH2 A47V does not lie within any known functional domains of the Idh2 protein (UniProt.org). A47V has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 A47V

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Transcript NM_002168.4
gDNA chr15:g.90091620G>A
cDNA c.140C>T
Protein p.A47V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.3 chr15:g.90091620G>A c.140C>T p.A47V RefSeq GRCh38/hg38
NM_002168.4 chr15:g.90091620G>A c.140C>T p.A47V RefSeq GRCh38/hg38
NM_002168 chr15:g.90091620G>A c.140C>T p.A47V 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.

Molecular Profile Protein Effect Treatment Approaches
IDH2 A47V unknown