FLT3 Y599_E604dup
Gene Variant Detail

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Gene FLT3
Variant Y599_E604dup
Impact List duplication
Protein Effect gain of function - predicted
Gene Variant Descriptions FLT3 Y599_E604dup indicates the insertion of six duplicate amino acids, tyrosine (Y)-599 through glutamic acid (E)-604, in the juxtamembrane domain of the Flt3 protein (PMID: 11756186). Y599_E604dup has not been biochemically characterized, but is predicted to lead to a gain of Flt3 protein function 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 Y599_E604dup

FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 Y599_E604dup

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Transcript NM_004119.3
gDNA chr13:g.28034107_28034124
cDNA c.1795_1812
Protein p.Y599_E604
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119 chr13:g.28034112_28034113insCTTAAGGTCATACTCCCA c.1813_1814insATGACCTTAAGTGGGAGT p.Y599_E604dup RefSeq GRCh38/hg38
NM_004119.3 chr13:g.28034107_28034124 c.1795_1812 p.Y599_E604 RefSeq GRCh38/hg38

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