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| Gene | FLT3 |
| Variant | G613_K614insYVDFREYEYDLKWEFRPRENLEFG |
| Impact List | insertion |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FLT3 G613_K614insYVDFREYEYDLKWEFRPRENLEFG (F612_G613insGYVDFREYEYDLKWEFRPRENLEF) results in the insertion of 24 amino acids in the protein kinase domain of the Flt3 protein between amino acids 613 and 614 (UniProt.org). G613_K614insYVDFREYEYDLKWEFRPRENLEFG results in transformation of cultured cells (PMID: 11756186), and therefore, is predicted to lead to a gain of Flt3 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 G613_K614insYVDFREYEYDLKWEFRPRENLEFG FLT3 mutant FLT3 act mut FLT3 exon 15 ins FLT3 G613_K614insYVDFREYEYDLKWEFRPRENLEFG FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 G613_K614insYVDFREYEYDLKWEFRPRENLEFG FLT3 mutant FLT3 exon15 FLT3 exon 15 ins FLT3 G613_K614insYVDFREYEYDLKWEFRPRENLEFG |
| Transcript | NM_004119.3 |
| gDNA | chr13:g.28033989_28033990insACCAAACTCAAGGTTCTCCCTAGGCCTAAACTCCCACTTAAGGTCATACTCATACTCCCTAAAGTCTACATA |
| cDNA | c.1839_1840insTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTTAGGCCTAGGGAGAACCTTGAGTTTGGT |
| Protein | p.G613_K614insYVDFREYEYDLKWEFRPRENLEFG |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119.2 | chr13:g.28033989_28033990insACCAAACTCAAGGTTCTCCCTAGGCCTAAACTCCCACTTAAGGTCATACTCATACTCCCTAAAGTCTACATA | c.1839_1840insTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTTAGGCCTAGGGAGAACCTTGAGTTTGGT | p.G613_K614insYVDFREYEYDLKWEFRPRENLEFG | RefSeq | GRCh38/hg38 |
| NM_004119.3 | chr13:g.28033989_28033990insACCAAACTCAAGGTTCTCCCTAGGCCTAAACTCCCACTTAAGGTCATACTCATACTCCCTAAAGTCTACATA | c.1839_1840insTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTTAGGCCTAGGGAGAACCTTGAGTTTGGT | p.G613_K614insYVDFREYEYDLKWEFRPRENLEFG | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FLT3 G613_K614insYVDFREYEYDLKWEFRPRENLEFG | acute myeloid leukemia | sensitive | Tandutinib | Preclinical - Cell culture | Actionable | In a preclinical study, Tandutinib (CT53518) inhibited proliferation of cells expressing FLT3 G613_K614insYVDFREYEYDLKWEFRPRENLEFG in culture (PMID: 12124172). | 12124172 |