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Gene | IDH2 |
Variant | W244* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | IDH2 W244* results in a premature truncation of the Idh2 protein at amino acid 244 of 452 (UniProt.org). Due to the loss of a site critical for catalysis (UniProt.org), W244* is predicted to lead to a loss of Idh2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 inact mut IDH2 W244* |
Transcript | NM_002168.4 |
gDNA | chr15:g.90087523C>T |
cDNA | c.731G>A |
Protein | p.W244* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168 | chr15:g.90087523C>T | c.731G>A | p.W244* | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90087523C>T | c.731G>A | p.W244* | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90087523C>T | c.731G>A | p.W244* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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