Gene Variant Detail

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Gene FLT3
Variant Y599_D600insSTDNEYFYVDFREYEY
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions FLT3 Y599_D600insSTDNEYFYVDFREYEY results in the insertion of sixteen amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 599 and 600 (UniProt.org). Y599_D600insSTDNEYFYVDFREYEY has not been biochemically characterized, but can be 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_D600insSTDNEYFYVDFREYEY

FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 Y599_D600insSTDNEYFYVDFREYEY

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Transcript NM_004119.3
gDNA chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCTGTGCTATA
cDNA c.1797_1798insAGCACAGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTAT
Protein p.Y599_D600insSTDNEYFYVDFREYEY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119.3 chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCTGTGCTATA c.1797_1798insAGCACAGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTAT p.Y599_D600insSTDNEYFYVDFREYEY RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCTGTGCTATA c.1797_1798insAGCACAGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTAT p.Y599_D600insSTDNEYFYVDFREYEY RefSeq GRCh38/hg38
NM_004119 chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCTGTGCTATA c.1797_1798insAGCACAGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTAT p.Y599_D600insSTDNEYFYVDFREYEY RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Protein Effect Treatment Approaches
FLT3 Y599_D600insSTDNEYFYVDFREYEY gain of function - predicted FLT3 Inhibitor
FLT3 Y599_D600insSTDNEYFYVDFREYEY IDH2 R140W