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Gene | IDH2 |
Variant | A416V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH2 A416V does not lie within any known functional domains of the Idh2 protein (UniProt.org). A416V has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 A416V |
Transcript | NM_002168.4 |
gDNA | chr15:g.90084840G>A |
cDNA | c.1247C>T |
Protein | p.A416V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90084840G>A | c.1247C>T | p.A416V | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90084840G>A | c.1247C>T | p.A416V | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90084840G>A | c.1247C>T | p.A416V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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