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Gene | FLT3 |
Variant | Q575del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 Q575del results in the deletion of an amino acid in the juxtamembrane domain of the Flt3 protein at amino acid 575 (PMID: 14759363). Q575del confers a gain of function to the Flt3 protein as demonstrated by activation of Stat5, Akt, and Erk1/2 signaling and IL3-independent growth in cultured cells (PMID: 33914060). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 Q575del FLT3 mutant FLT3 exon14 FLT3 Q575del |
Transcript | NM_004119.2 |
gDNA | chr13:g.28034194_28034196delCTG |
cDNA | c.1724_1726delAGC |
Protein | p.Q575del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28034194_28034196delCTG | c.1724_1726delAGC | p.Q575del | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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