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Gene | IDH2 |
Variant | I139F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH2 I139F lies within the substrate binding region of the Idh2 protein (UniProt.org). I139F 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 I139F |
Transcript | NM_002168.4 |
gDNA | chr15:g.90088706T>A |
cDNA | c.415A>T |
Protein | p.I139F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001290114 | chr15:g.90087449T>A | c.415A>T | p.I139F | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90088706T>A | c.415A>T | p.I139F | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90088706T>A | c.415A>T | p.I139F | RefSeq | GRCh38/hg38 |
NM_001290114.1 | chr15:g.90087449T>A | c.415A>T | p.I139F | RefSeq | GRCh38/hg38 |
NM_001290114.2 | chr15:g.90087449T>A | c.415A>T | p.I139F | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90088706T>A | c.415A>T | p.I139F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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