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| Gene | FLT3 |
| Variant | F594Y |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FLT3 F594Y lies within the juxtamembrane domain of the Flt3 protein (PMID: 29164965). F594Y results in increased phosphorylation of Flt3 and Stat5 in culture (EHA, June 2017, abstr P184), and therefore, is predicted to lead to a gain of Flt3 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 F594Y FLT3 mutant FLT3 exon14 FLT3 F594Y |
| Transcript | NM_004119.3 |
| gDNA | chr13:g.28034138A>T |
| cDNA | c.1781T>A |
| Protein | p.F594Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119.2 | chr13:g.28034138A>T | c.1781T>A | p.F594Y | RefSeq | GRCh38/hg38 |
| NM_004119.3 | chr13:g.28034138A>T | c.1781T>A | p.F594Y | RefSeq | GRCh38/hg38 |
| NM_004119 | chr13:g.28034138A>T | c.1781T>A | p.F594Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FLT3 F594Y | gain of function - predicted | FLT3 Inhibitor |