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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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28034200_28034202delTTC | c.1717_1719delGAA | p.E573del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 E573del | hematologic cancer | sensitive | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, Rydapt (midostaurin) decreased proliferation in transformed cells expressing FLT3 E573del in culture (PMID: 33914060). | 33914060 |
FLT3 E573del | hematologic cancer | sensitive | Quizartinib | Preclinical - Cell culture | Actionable | In a preclinical study, Vanflyta (quizartinib) decreased proliferation in transformed cells expressing FLT3 E573del in culture (PMID: 33914060). | 33914060 |
FLT3 E573del | hematologic cancer | sensitive | Lestaurtinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lestaurtinib (CEP-701) decreased proliferation in transformed cells expressing FLT3 E573del in culture (PMID: 33914060). | 33914060 |
FLT3 E573del | hematologic cancer | sensitive | Sorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Nexavar (sorafenib) decreased proliferation in transformed cells expressing FLT3 E573del in culture (PMID: 33914060). | 33914060 |
FLT3 E573del | hematologic cancer | sensitive | Crenolanib | Preclinical - Cell culture | Actionable | In a preclinical study, Crenolanib (CP-868596) decreased proliferation in transformed cells expressing FLT3 E573del in culture (PMID: 33914060). | 33914060 |
FLT3 E573del | hematologic cancer | sensitive | Ponatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Iclusig (ponatinib) decreased proliferation in transformed cells expressing FLT3 E573del in culture (PMID: 33914060). | 33914060 |