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FLT3 Y599_D600insPAPQIMSTSTLISENMNIA - 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 act mut FLT3 exon 14 ins FLT3 Y599_D600insPAPQIMSTSTLISENMNIA

FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 Y599_D600insPAPQIMSTSTLISENMNIA

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Transcript NM_004119.3
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_004119.3 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

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