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FLT3 Y597_E598insAGSSDNEYFYVDFREY - Gene Variant Detail

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Gene FLT3
Variant Y597_E598insAGSSDNEYFYVDFREY
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions FLT3 Y597_E598insAGSSDNEYFYVDFREY results in the insertion of 16 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 597 and 598 (PMID: 14759363). Y597_E598insAGSSDNEYFYVDFREY has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
Associated Drug Resistance
Category Variants Paths

FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 Y597_E598insAGSSDNEYFYVDFREY

FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 Y597_E598insAGSSDNEYFYVDFREY

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Transcript NM_004119.3
gDNA chr13:g.28034130_28034131insCTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGCATA
cDNA c.1792_1793insCAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATG
Protein p.Y597_E598insAGSSDNEYFYVDFREY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119.2 chr13:g.28034130_28034131insCTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGCATA c.1792_1793insCAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATG p.Y597_E598insAGSSDNEYFYVDFREY RefSeq GRCh38/hg38
NM_004119.3 chr13:g.28034130_28034131insCTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGCATA c.1792_1793insCAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATG p.Y597_E598insAGSSDNEYFYVDFREY RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References