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Gene IDH2
Variant H348Q
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH2 H348Q does not lie within any known functional domains of the Idh2 protein (UniProt.org). H348Q 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 H348Q

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Transcript NM_002168.4
gDNA chr15:g.90085311A>T
cDNA c.1044T>A
Protein p.H348Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.3 chr15:g.90085311A>T c.1044T>A p.H348Q RefSeq GRCh38/hg38
NM_002168.4 chr15:g.90085311A>T c.1044T>A p.H348Q RefSeq GRCh38/hg38
NM_002168 chr15:g.90085311A>T c.1044T>A p.H348Q RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References