Gene Variant Detail

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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 exon14 FLT3 exon 14 ins FLT3 E598_Y599insGLVQVTGSSDNEYFYVDFREYE

FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 E598_Y599insGLVQVTGSSDNEYFYVDFREYE

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Transcript NM_004119.2
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_004119.2 chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTTACTTGTACAAGACC c.1794_1795insGGTCTTGTACAAGTAACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAG p.E598_Y599insGLVQVTGSSDNEYFYVDFREYE RefSeq GRCh38/hg38
NM_004119 chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTTACTTGTACAAGACC c.1794_1795insGGTCTTGTACAAGTAACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAG p.E598_Y599insGLVQVTGSSDNEYFYVDFREYE RefSeq GRCh38/hg38

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  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries