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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_004119.2 | 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 |
| NM_004119.3 | chr13:g.28034088_28034089insAAGGTTCTCCCTAGGAAACTCCCACTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACA | c.1830_1831insTGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAGTTTCCTAGGGAGAACCTT | p.L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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