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| Gene | FLT3 |
| Variant | E604_F605insSPRGGNEYFYVDFREYEYDLKWE |
| Impact List | insertion |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FLT3 E604_F605insSPRGGNEYFYVDFREYEYDLKWE results in the insertion of 23 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 604 and 605 (PMID: 14759363). E604_F605insSPRGGNEYFYVDFREYEYDLKWE has not been biochemically characterized, but is predicted to lead to a gain of Flt3 protein function based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077). |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 E604_F605insSPRGGNEYFYVDFREYEYDLKWE FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 E604_F605insSPRGGNEYFYVDFREYEYDLKWE |
| Transcript | NM_004119.3 |
| gDNA | chr13:g.28034112_28034113insCTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAATACTCGTTACCACCCCTAGGGCTCTCCCA |
| cDNA | c.1812_1813insAGCCCTAGGGGTGGTAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAG |
| Protein | p.E604_F605insSPRGGNEYFYVDFREYEYDLKWE |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119.2 | chr13:g.28034112_28034113insCTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAATACTCGTTACCACCCCTAGGGCTCTCCCA | c.1812_1813insAGCCCTAGGGGTGGTAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAG | p.E604_F605insSPRGGNEYFYVDFREYEYDLKWE | RefSeq | GRCh38/hg38 |
| NM_004119.3 | chr13:g.28034112_28034113insCTTAAGGTCATACTCATACTCCCTAAAGTCTACATAAAAATACTCGTTACCACCCCTAGGGCTCTCCCA | c.1812_1813insAGCCCTAGGGGTGGTAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTATGACCTTAAGTGGGAG | p.E604_F605insSPRGGNEYFYVDFREYEYDLKWE | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FLT3 E604_F605insSPRGGNEYFYVDFREYEYDLKWE | gain of function - predicted | FLT3 Inhibitor |