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Gene | IDH2 |
Variant | A347T |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH2 A347T does not lie within any known functional domains of the Idh2 protein (UniProt.org). A347T confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
IDH2 mutant IDH2 A347T |
Transcript | NM_002168.4 |
gDNA | chr15:g.90085316C>T |
cDNA | c.1039G>A |
Protein | p.A347T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90085316C>T | c.1039G>A | p.A347T | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90085316C>T | c.1039G>A | p.A347T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH2 A347T | no effect - predicted | |
IDH2 R140Q IDH2 A347T |