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Gene | IDH2 |
Variant | I319M |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH2 I319M does not lie within any known functional domains of the Idh2 protein (UniPort.org). I319M confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but retains dimerization ability and does not lead to increased production of 2HG in 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 I319M |
Transcript | NM_002168.4 |
gDNA | chr15:g.90087122G>C |
cDNA | c.957C>G |
Protein | p.I319M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90087122G>C | c.957C>G | p.I319M | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90087122G>C | c.957C>G | p.I319M | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90087122G>C | c.957C>G | p.I319M | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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