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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 | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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