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Gene | IDH2 |
Variant | F394I |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | IDH2 F394I does not lie within any known functional domains of the Idh2 protein (UniProt.org). F394I results in decreased cellular accumulation of Idh2 protein in culture (PMID: 21996744), and therefore, is predicted to lead to a loss of Idh2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 inact mut IDH2 F394I |
Transcript | NM_002168.4 |
gDNA | chr15:g.90084907A>T |
cDNA | c.1180T>A |
Protein | p.F394I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90084907A>T | c.1180T>A | p.F394I | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90084907A>T | c.1180T>A | p.F394I | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90084907A>T | c.1180T>A | p.F394I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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