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Gene | FLT3 |
Variant | L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL |
Impact List | insertion |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL results in the insertion of 28 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids L610 and E611 (UniProt.org, PMID: 11756186). L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL results in constitutive phosphorylation of Flt3, activation of Stat5 and Mapk signaling, and transformation of cultured cells (PMID: 10698507, PMID: 11756186). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034088_28034089insAAGGTTCTCCCTAGGAAACTCCCACTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACA |
cDNA | c.1830_1831insTGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTTCCTAGGGAGAACCTT |
Protein | p.L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28034088_28034089insAAGGTTCTCCCTAGGAAACTCCCACTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACA | c.1830_1831insTGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTTCCTAGGGAGAACCTT | p.L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28034088_28034089insAAGGTTCTCCCTAGGAAACTCCCACTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACA | c.1830_1831insTGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTTCCTAGGGAGAACCTT | p.L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28034088_28034089insAAGGTTCTCCCTAGGAAACTCCCACTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACA | c.1830_1831insTGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTTCCTAGGGAGAACCTT | p.L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL | acute myeloid leukemia | sensitive | Tandutinib | Preclinical - Cell culture | Actionable | In a preclinical study, tandutinib (CT53518) inhibited proliferation of cells expressing FLT3 L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL in culture (PMID: 12124172). | 12124172 |