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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 can be predicted to lead to activation of Flt3 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 | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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