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Gene | FLT3 |
Variant | V592A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 V592A lies within a region important for maintaining kinase activity in the Flt3 protein (UniProt.org). V592A results in constitutive phosphorylation of Flt3, activation of Stat5 signaling, upregulation of Bcl-x(L), and is transforming in cell culture (PMID: 16410449). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 V592A FLT3 mutant FLT3 exon14 FLT3 V592A |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034144A>G |
cDNA | c.1775T>C |
Protein | p.V592A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28034144A>G | c.1775T>C | p.V592A | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28034144A>G | c.1775T>C | p.V592A | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034144A>G | c.1775T>C | p.V592A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 V592A | gain of function | FLT3 Inhibitor |