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Gene | IDH2 |
Variant | T146fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | IDH2 T146fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 146 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of sites critical for catalysis (UniProt.org), T146fs is predicted to lead to a loss of Idh2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 inact mut IDH2 T146fs |
Transcript | NM_002168.4 |
gDNA | chr15:g.(90088685_90088686) |
cDNA | c.(436_435) |
Protein | p.T146fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001290114 | chr15:g.(90087253_90087254) | c.(436_435) | p.T146fs | RefSeq | GRCh38/hg38 |
NM_001290114.1 | chr15:g.(90087253_90087254) | c.(436_435) | p.T146fs | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.(90088685_90088686) | c.(436_435) | p.T146fs | RefSeq | GRCh38/hg38 |
NM_001290114.2 | chr15:g.(90087253_90087254) | c.(436_435) | p.T146fs | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.(90088685_90088686) | c.(436_435) | p.T146fs | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.(90088685_90088686) | c.(436_435) | p.T146fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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