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Gene | FLT3 |
Variant | E598_Y599insGLVQVTGSSDNEYFYVDFREYE |
Impact List | insertion |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 E598_Y599insGLVQVTGSSDNEYFYVDFREYE results in the insertion of 22 amino acids in the cytoplasmic juxtamembrane domain of the Flt3 protein between amino acids E598 and Y599 (PMID: 11756186). E598_Y599insGLVQVTGSSDNEYFYVDFREYE confers a gain of function on Flt3 protein as indicated by transformation of cells in culture and induction of myeloproliferative disorder in mouse models (PMID: 11756186). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 E598_Y599insGLVQVTGSSDNEYFYVDFREYE FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 E598_Y599insGLVQVTGSSDNEYFYVDFREYE |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTTACTTGTACAAGACC |
cDNA | c.1794_1795insGGTCTTGTACAAGTAACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAG |
Protein | p.E598_Y599insGLVQVTGSSDNEYFYVDFREYE |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTTACTTGTACAAGACC | c.1794_1795insGGTCTTGTACAAGTAACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAG | p.E598_Y599insGLVQVTGSSDNEYFYVDFREYE | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTTACTTGTACAAGACC | c.1794_1795insGGTCTTGTACAAGTAACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAG | p.E598_Y599insGLVQVTGSSDNEYFYVDFREYE | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTTACTTGTACAAGACC | c.1794_1795insGGTCTTGTACAAGTAACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAG | p.E598_Y599insGLVQVTGSSDNEYFYVDFREYE | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 E598_Y599insGLVQVTGSSDNEYFYVDFREYE | acute myeloid leukemia | sensitive | Tandutinib | Preclinical | Actionable | In a preclinical study, tandutinib (CT53518) inhibited proliferation of cells expressing FLT3 E598_Y599insGLVQVTGSSDNEYFYVDFREYE in culture (PMID: 12124172). | 12124172 |