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|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 demonstrates dimerization ability and does not lead to increased production of 2HG in culture similar to wild-type Idh2, however, is associated with resistance to Enasidenib when occurring in cis or trans with IDH2 R140Q (PMID: 29950729).|
|Associated Drug Resistance||Y|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|IDH2 R140Q IDH2 Q316E||acute myeloid leukemia||resistant||Enasidenib||Case Reports/Case Series||Actionable||In a clinical study, IDH2 Q316E was identified as an acquired mutation in trans with the original IDH2 R140Q in a patient with acute myeloid leukemia (AML), who developed resistance to Idhifa (enasidenib) after initial response, and coexpression of IDH2 Q316E in trans or in cis with IDH2 R140Q conferred resistance to Idhifa (enasidenib) in culture and in animal models of AML, supporting a mechanism of variants cooperating to confer resistance (PMID: 29950729).||29950729|