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Gene | FLT3 |
Variant | D586_E596dup |
Impact List | duplication |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 D586_E596dup indicates the insertion of 11 duplicate amino acids, aspartic acid (D)-586 through glutamic acid (E)-596, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). D586_E596dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 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 D586_E596dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 D586_E596dup |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034131_28034163 |
cDNA | c.1756_1788 |
Protein | p.D586_E596 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28034130_28034131insCTCCCTAAAGTCTACATAAAAATACTCGTTGTC | c.1788_1789insGACAACGAGTATTTTTATGTAGACTTTAGGGAG | p.D586_E596dup | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034131_28034163 | c.1756_1788 | p.D586_E596 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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