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| Gene | FLT3 |
| Variant | Y599_D600insGLYVDFREYEY |
| Impact List | insertion |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FLT3 Y599_D600insGLYVDFREYEY results in the insertion of 11 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 599 and 600 (PMID: 11756186). Y599_D600insGLYVDFREYEY results in transformation in cell culture (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 Y599_D600insGLYVDFREYEY FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 Y599_D600insGLYVDFREYEY |
| Transcript | NM_004119.3 |
| gDNA | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAGACCATA |
| cDNA | c.1798_1799insGTCTTTATGTAGACTTTAGGGAGTATGAGTATG |
| Protein | p.Y599_D600insGLYVDFREYEY |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119.2 | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAGACCATA | c.1798_1799insGTCTTTATGTAGACTTTAGGGAGTATGAGTATG | p.Y599_D600insGLYVDFREYEY | RefSeq | GRCh38/hg38 |
| NM_004119 | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAGACCATA | c.1798_1799insGTCTTTATGTAGACTTTAGGGAGTATGAGTATG | p.Y599_D600insGLYVDFREYEY | RefSeq | GRCh38/hg38 |
| NM_004119.3 | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAGACCATA | c.1798_1799insGTCTTTATGTAGACTTTAGGGAGTATGAGTATG | p.Y599_D600insGLYVDFREYEY | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FLT3 Y599_D600insGLYVDFREYEY | acute myeloid leukemia | sensitive | Tandutinib | Preclinical | Actionable | In a preclinical study, tandutinib (CT53518) inhibited proliferation of cells expressing FLT3 Y599_D600insGLYVDFREYEY in culture (PMID: 12124172). | 12124172 |