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Gene | IDH2 |
Variant | R159H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH2 R159H does not lie within any known functional domains of the Idh2 protein (UniProt.org). R159H results in increased glycolysis and mitochondrial respiration in combination with IDH2 R140Q in patient-derived cells in culture (PMID: 38009542), but has not been individually characterized and therefore, its effect on Idh2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 R159H |
Transcript | NM_002168.4 |
gDNA | chr15:g.90088645C>T |
cDNA | c.476G>A |
Protein | p.R159H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168 | chr15:g.90088645C>T | c.476G>A | p.R159H | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90088645C>T | c.476G>A | p.R159H | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90088645C>T | c.476G>A | p.R159H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH2 R159H | unknown |