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Gene | FLT3 |
Variant | E598_Y599insFDFREYE |
Impact List | insertion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 E598_Y599insFDFREYE results in the insertion of seven amino acids in the Flt3 protein between amino acids 598 and 599 (UniProt.org). E598_Y599insFDFREYE 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_Y599insFDFREYE FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 E598_Y599insFDFREYE |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCAAA |
cDNA | c.1795_1796insTTGACTTTAGGGAGTATGAGT |
Protein | p.E598_Y599insFDFREYE |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |