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FLT3 L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL - Gene Variant Detail

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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

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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 chr13:g.28034088_28034089insAAGGTTCTCCCTAGGAAACTCCCACTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACA c.1830_1831insTGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTTCCTAGGGAGAACCTT p.L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL RefSeq GRCh38/hg38
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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries