Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| 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 | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FLT3 E598_Y599del | hematologic cancer | sensitive | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, Rydapt (midostaurin) inhibited Flt3 and Stat5 phosphorylation and viability in cells expressing FLT3 E598_Y599del in culture (PMID: 26012842). | 26012842 |
| FLT3 E598_Y599del | hematologic cancer | sensitive | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, Rydapt (midostaurin) treatment decreased viability in a cell line expressing FLT3 E598_Y599del in culture (PMID: 40196870). | 40196870 |
| FLT3 E598_Y599del | hematologic cancer | sensitive | Quizartinib | Preclinical - Cell culture | Actionable | In a preclinical study, Vanflyta (quizartinib) inhibited Flt3 and Stat5 phosphorylation and viability in cells expressing FLT3 E598_Y599del in culture (PMID: 26012842). | 26012842 |
| FLT3 E598_Y599del | hematologic cancer | sensitive | Quizartinib | Preclinical - Cell culture | Actionable | In a preclinical study, Vanflyta (quizartinib) treatment decreased viability in a cell line expressing FLT3 E598_Y599del in culture (PMID: 40196870). | 40196870 |
| FLT3 E598_Y599del | hematologic cancer | sensitive | Gilteritinib | Preclinical - Cell culture | Actionable | In a preclinical study, Xospata (gilteritinib) treatment decreased viability in a cell line expressing FLT3 E598_Y599del in culture (PMID: 40196870). | 40196870 |