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Gene | FLT3 |
Variant | M578_E598dup |
Impact List | duplication |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 M578_E598dup indicates the insertion of 21 duplicate amino acids, methionine (M)-578 through glutamic acid (E)-598, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). M578_E598dup 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 M578_E598dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 M578_E598dup |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034125_28034187 |
cDNA | c.1732_1794 |
Protein | p.M578_E598 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28034125_28034187 | c.1732_1794 | p.M578_E598 | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTTACTTGTACCAT | c.1794_1795insATGGTACAAGTAACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAG | p.M578_E598dup | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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