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| Gene | FLT3 |
| Variant | E573del |
| Impact List | deletion |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FLT3 E573del results in the deletion of an amino acid in the juxtamembrane domain of the Flt3 protein at amino acid 573 (PMID: 14759363). E573del confers a gain of function to the Flt3 protein as demonstrated by activation of Stat5, Akt, and Erk1/2 signaling and IL3-independent growth in cultured cells (PMID: 33914060). |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 E573del FLT3 mutant FLT3 exon14 FLT3 E573del |
| Transcript | NM_004119.2 |
| gDNA | chr13:g.28034200_28034202delTTC |
| cDNA | c.1717_1719delGAA |
| Protein | p.E573del |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |