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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_004119.3 | chr13:g.28034104_28034151 | c.1768_1815 | p.F590_F605 | RefSeq | GRCh38/hg38 |
| NM_004119 | chr13:g.28034112_28034113insCTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAAAACTCCCA | c.1815_1816insTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTT | p.F590_F605dup | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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