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Gene | FLT3 |
Variant | E598_Y599insVAYVDFREYE |
Impact List | insertion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 E598_Y599insVAYVDFREYE results in the insertion of ten amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 598 and 599 (PMID: 14759363). E598_Y599insVAYVDFREYE 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 E598_Y599insVAYVDFREYE FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 E598_Y599insVAYVDFREYE |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATATGCTAC |
cDNA | c.1794_1795insGTAGCATATGTAGACTTTAGGGAGTATGAG |
Protein | p.E598_Y599insVAYVDFREYE |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATATGCTAC | c.1794_1795insGTAGCATATGTAGACTTTAGGGAGTATGAG | p.E598_Y599insVAYVDFREYE | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATATGCTAC | c.1794_1795insGTAGCATATGTAGACTTTAGGGAGTATGAG | p.E598_Y599insVAYVDFREYE | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 E598_Y599insVAYVDFREYE | gain of function - predicted | FLT3 Inhibitor |