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Gene | FLT3 |
Variant | Y572del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 Y572del results in the deletion of an amino acid in the juxtamembrane domain of the Flt3 protein at amino acid 572 (PMID: 14759363). Y572del 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 Y572del FLT3 mutant FLT3 exon14 FLT3 Y572del |
Transcript | NM_004119.2 |
gDNA | chr13:g.28034203_28034205delATA |
cDNA | c.1714_1716delTAT |
Protein | p.Y572del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017020488.1 | chr13:g.28015649_28015651delTAG | c.1714_1716delTAC | p.Y572delY | RefSeq | GRCh38/hg38 |
XM_011535015.2 | chr13:g.28034147_28034149delTAG | c.1714_1716delTAC | p.Y572delY | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28034203_28034205delATA | c.1714_1716delTAT | p.Y572del | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 Y572del | gain of function | FLT3 Inhibitor |