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Gene | FLT3 |
Variant | F594L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 F594L lies within the juxtamembrane domain of the Flt3 protein (PMID: 29164965). F594L results in constitutive phosphorylation of Flt3, activation of Stat5 signaling, and is transforming in culture (PMID: 16410449). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 F594L FLT3 mutant FLT3 exon14 FLT3 F594L |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034139A>G |
cDNA | c.1780T>C |
Protein | p.F594L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28034139A>G | c.1780T>C | p.F594L | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28034139A>G | c.1780T>C | p.F594L | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28034139A>G | c.1780T>C | p.F594L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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