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Gene | IDH2 |
Variant | R140X |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH2 R140X indicates any Idh2 missense mutation that results in the replacement of the arginine (R) at amino acid 140 by a different amino acid. R140 variants are hotspot mutations in Idh2, which may confer a gain of function to the Idh2 protein resulting in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 23071358, PMID: 27621679). |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 R140X |
Transcript | NM_002168.4 |
gDNA | chr15:g.90088701_90088703 |
cDNA | c.418_420 |
Protein | p.R140 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90088701_90088703 | c.418_420 | p.R140 | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90088701_90088703 | c.418_420 | p.R140 | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90088701_90088703 | c.418_420 | p.R140 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH2 R140X | unknown | IDH Inhibitor (Pan) IDH2 Inhibitor |