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Gene | FLT3 |
Variant | S574del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 S574del results in the deletion of an amino acid in the juxtamembrane domain of the Flt3 protein at amino acid 573 (PMID: 14759363). S574del 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 S574del FLT3 mutant FLT3 exon14 FLT3 S574del |
Transcript | NM_004119.2 |
gDNA | chr13:g.28034197_28034199delGCT |
cDNA | c.1720_1722delAGC |
Protein | p.S574del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011535017.2 | chr13:g.28024904_28024906delCGA | c.1720_1722delTCG | p.S574delS | RefSeq | GRCh38/hg38 |
XM_017020487.1 | chr13:g.28024904_28024906delCGA | c.1720_1722delTCG | p.S574delS | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28034197_28034199delGCT | c.1720_1722delAGC | p.S574del | RefSeq | GRCh38/hg38 |
XM_017020489.1 | chr13:g.28015624_28015626delTGA | c.1721_1723delCAT | p.S574delS | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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