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| Gene | FLT3 |
| Variant | R595_L601dup |
| Impact List | duplication |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FLT3 R595_L601dup (also referred to as FLT3 L601_K602insREYEYDL) indicates the insertion of seven duplicate amino acids, arginine (R)-595 through leucine(L)-601, in the juxtamembrane domain of the Flt3 protein (PMID: 11756186). R595_L601dup results in constitutive phosphorylation of Flt3, activation of Stat5 and Erk signaling, transformation of cells in culture, and induction of myeloproliferative disorder in mouse models (PMID: 18068628, PMID: 11756186). |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 R595_L601dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 R595_L601dup |
| Transcript | NM_004119.3 |
| gDNA | chr13:g.28034116_28034136 |
| cDNA | c.1783_1803 |
| Protein | p.R595_L601 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119 | chr13:g.28034115_28034116insAAGGTCATACTCATACTCCCT | c.1804_1805insGGGAGTATGAGTATGACCTTA | p.R595_L601dup | RefSeq | GRCh38/hg38 |
| NM_004119.3 | chr13:g.28034116_28034136 | c.1783_1803 | p.R595_L601 | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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