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Gene | IDH2 |
Variant | R140G |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | IDH2 R140G lies within the substrate binding region of the Idh2 protein (UniProt.org). R140G has been associated with increased 2-hydroxyglutarate (2-HG) levels in patient samples (PMID: 20847235), and therefore, is predicted to lead to a gain of Idh2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 act mut IDH2 R140G IDH2 mutant IDH2 R140X IDH2 R140G |
Transcript | NM_002168.4 |
gDNA | chr15:g.90088703G>C |
cDNA | c.418C>G |
Protein | p.R140G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90088703G>C | c.418C>G | p.R140G | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90088703G>C | c.418C>G | p.R140G | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90088703G>C | c.418C>G | p.R140G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH2 R140G | gain of function - predicted | IDH Inhibitor (Pan) IDH2 Inhibitor |