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Gene | IDH2 |
Variant | A416fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | IDH2 A416fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 416 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). A416fs has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 A416fs |
Transcript | NM_002168.4 |
gDNA | chr15:g.(90084841_90084842) |
cDNA | c.(1246_1245) |
Protein | p.A416fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168 | chr15:g.(90084841_90084842) | c.(1246_1245) | p.A416fs | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.(90084841_90084842) | c.(1246_1245) | p.A416fs | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.(90084841_90084842) | c.(1246_1245) | p.A416fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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