Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | IDH2 |
Variant | Q316E |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH2 Q316E does not lie within any known functional domains of the Idh2 protein (UniPort.org). Q316E confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but retains dimerization ability and does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 29950729, PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
IDH2 mutant IDH2 Q316E |
Transcript | NM_002168.4 |
gDNA | chr15:g.90087133G>C |
cDNA | c.946C>G |
Protein | p.Q316E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90087133G>C | c.946C>G | p.Q316E | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90087133G>C | c.946C>G | p.Q316E | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90087133G>C | c.946C>G | p.Q316E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|