FLT3 F594_R595insGTGSSDNEYFYVDF
Gene Variant Detail

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Gene FLT3
Variant F594_R595insGTGSSDNEYFYVDF
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions FLT3 F594_R595insGTGSSDNEYFYVDF results in the insertion of 14 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 594 and 595 (PMID: 14759363). F594_R595insGTGSSDNEYFYVDF 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 F594_R595insGTGSSDNEYFYVDF

FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 F594_R595insGTGSSDNEYFYVDF

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Transcript NM_004119.3
gDNA chr13:g.28034136_28034137insAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTACC
cDNA c.1782_1783insGGTACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTT
Protein p.F594_R595insGTGSSDNEYFYVDF
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119.3 chr13:g.28034136_28034137insAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTACC c.1782_1783insGGTACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTT p.F594_R595insGTGSSDNEYFYVDF RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28034136_28034137insAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTACC c.1782_1783insGGTACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTT p.F594_R595insGTGSSDNEYFYVDF RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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