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Gene | FLT3 |
Variant | Y599F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FLT3 Y599F lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). Y599F results in sustained ligand-dependent phosphorylation of Flt3, but decreased ligand-dependent Erk activation and cell survival in culture due to the loss of Shp2 interaction (PMID: 16684964). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 exon14 FLT3 Y599F FLT3 mutant FLT3 inact mut FLT3 Y599F |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034123T>A |
cDNA | c.1796A>T |
Protein | p.Y599F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28034123T>A | c.1796A>T | p.Y599F | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034123T>A | c.1796A>T | p.Y599F | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28034123T>A | c.1796A>T | p.Y599F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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