Gene Variant Detail

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Gene FLT3
Variant Y599_D600insPAPQIMSTSTLISENMNIA
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions FLT3 Y599_D600insPAPQIMSTSTLISENMNIA results in the insertion of nineteen amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 599 and 600 (UniProt.org). Y599_D600insPAPQIMSTSTLISENMNIA 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 exon14 FLT3 exon 14 ins FLT3 Y599_D600insPAPQIMSTSTLISENMNIA

FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 Y599_D600insPAPQIMSTSTLISENMNIA

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Transcript NM_004119.2
gDNA chr13:g.28034121_28034122insTGCGATGTTCATGTTCTCGCTGATAAGTGTGCTTGTGCTCATGATTTGAGGTGCAGG
cDNA c.1797_1798insCCTGCACCTCAAATCATGAGCACAAGCACACTTATCAGCGAGAACATGAACATCGCA
Protein p.Y599_D600insPAPQIMSTSTLISENMNIA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119 chr13:g.28034121_28034122insTGCGATGTTCATGTTCTCGCTGATAAGTGTGCTTGTGCTCATGATTTGAGGTGCAGG c.1797_1798insCCTGCACCTCAAATCATGAGCACAAGCACACTTATCAGCGAGAACATGAACATCGCA p.Y599_D600insPAPQIMSTSTLISENMNIA RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28034121_28034122insTGCGATGTTCATGTTCTCGCTGATAAGTGTGCTTGTGCTCATGATTTGAGGTGCAGG c.1797_1798insCCTGCACCTCAAATCATGAGCACAAGCACACTTATCAGCGAGAACATGAACATCGCA p.Y599_D600insPAPQIMSTSTLISENMNIA RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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