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| Gene | FLT3 |
| Variant | F590_D593delinsLY |
| Impact List | indel |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FLT3 F590_D593delinsLY results in a deletion of four amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 590 to 593, combined with the insertion of a leucine (L) and a tyrosine (Y) at the same site (PMID: 11756186). F590_D593delinsLY confers a gain of function to Flt3 as demonstrated by increased Flt3 downstream signaling, decreased apoptosis, weak clonogenic growth, and cytokine-independent growth in cultured cells (PMID: 26012842). |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 F590_D593delinsLY FLT3 mutant FLT3 exon14 FLT3 F590_D593delinsLY |
| Transcript | NM_004119.2 |
| gDNA | chr13:g.28034140_28034151delinsATAAAG |
| cDNA | c.1768_1779delinsCTTTAT |
| Protein | p.F590_D593delinsLY |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119.2 | chr13:g.28034140_28034151delinsATAAAG | c.1768_1779delinsCTTTAT | p.F590_D593delinsLY | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FLT3 F590_D593delinsLY | gain of function | FLT3 Inhibitor |