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Gene | IDH2 |
Variant | V351I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH2 V351I does not lie within any known functional domains of the Idh2 protein (UniProt.org). V351I 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 V351I |
Transcript | NM_002168.4 |
gDNA | chr15:g.90085304C>T |
cDNA | c.1051G>A |
Protein | p.V351I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90085304C>T | c.1051G>A | p.V351I | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90085304C>T | c.1051G>A | p.V351I | RefSeq | GRCh38/hg38 |
NM_001289910.1 | chr15:g.90084878_90084880delGTGinsATC | c.1051_1053delGTGinsATC | p.V351I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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