FLT3 F594_D600dup
Gene Variant Detail

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Gene FLT3
Variant F594_D600dup
Impact List duplication
Protein Effect gain of function - predicted
Gene Variant Descriptions FLT3 F594_D600dup indicates the insertion of seven duplicate amino acids, phenylalanine (F)-594 through aspartic acid (D)-600, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). F594_D600dup 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_D600dup

FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 F594_D600dup

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Transcript NM_004119.3
gDNA chr13:g.28034119_28034139
cDNA c.1780_1800
Protein p.F594_D600
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119.3 chr13:g.28034119_28034139 c.1780_1800 p.F594_D600 RefSeq GRCh38/hg38
NM_004119 chr13:g.28034118_28034119insGTCATACTCATACTCCCTAAA c.1800_1801insTTTAGGGAGTATGAGTATGAC p.F594_D600dup 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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  • 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