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Gene | IDH2 |
Variant | V294M |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH2 V294M does not lie within any known functional domains of the Idh2 protein (UniProt.org). V294M demonstrates isocitrate-dependent NAPDH production similar to wild-type Idh2 in in vitro assays and does not result in increased 2HG production (PMID: 21996744), and therefore, is predicted to have no effect on Idh2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 V294M |
Transcript | NM_002168.4 |
gDNA | chr15:g.90087199C>T |
cDNA | c.880G>A |
Protein | p.V294M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168 | chr15:g.90087199C>T | c.880G>A | p.V294M | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90087199C>T | c.880G>A | p.V294M | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90087199C>T | c.880G>A | p.V294M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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