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Gene IDH2
Variant R172X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH2 R172X indicates any Idh2 missense mutation that results in the replacement of the arginine (R) at amino acid 172 by a different amino acid. R172 variants are hotspot mutations in Idh2, which may confer a gain of function to Idh2 resulting in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 28711227, PMID: 21326614, PMID: 25495392).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 R172X

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Transcript NM_002168.4
gDNA chr15:g.90088605_90088607
cDNA c.514_516
Protein p.R172
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.4 chr15:g.90088605_90088607 c.514_516 p.R172 RefSeq GRCh38/hg38
NM_002168 chr15:g.90088605_90088607 c.514_516 p.R172 RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088605_90088607 c.514_516 p.R172 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 R172X unknown IDH Inhibitor (Pan) IDH2 Inhibitor