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Gene | FLT3 |
Variant | F590_F605dup |
Impact List | duplication |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 F590_F605dup indicates the insertion of 16 duplicate amino acids, phenylalanine (F)-590 through phenylalanine (F)-605, in the juxtamembrane domain of the Flt3 protein (PMID: 11756186). F590_F605dup results in constitutive phosphorylation of Flt3, activation of Stat5 and Erk signaling, and transformation of cells in culture (PMID: 10698507). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 F590_F605dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 F590_F605dup |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034104_28034151 |
cDNA | c.1768_1815 |
Protein | p.F590_F605 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28034112_28034113insCTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAAAACTCCCA | c.1815_1816insTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTT | p.F590_F605dup | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034104_28034151 | c.1768_1815 | p.F590_F605 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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