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Gene | FLT3 |
Variant | E598_Y599del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 E598_Y599del results in the deletion of two amino acids in the juxtamembrane domain of the Flt3 protein from amino acid 598 to 599 (PMID: 11756186). E598_Y599del confers a gain of function to Flt3 as demonstrated by increased Flt3 downstream signaling, decreased apoptosis, clonogenic growth, and cytokine-independent growth in cultured cells (PMID: 26012842). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 E598_Y599del FLT3 mutant FLT3 exon14 FLT3 E598_Y599del |
Transcript | NM_004119.2 |
gDNA | chr13:g.28034128_28034133delATATTC |
cDNA | c.1794_1799delATATGA |
Protein | p.E598_Y599del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28034128_28034133delATATTC | c.1794_1799delATATGA | p.E598_Y599del | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 E598_Y599del | gain of function | FLT3 Inhibitor |