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Gene | FLT3 |
Variant | L576R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 L576R lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). L576R results in increased phosphorylation of Flt3 and Stat5 in culture (EHA, June 2017, abstr P184). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 L576R FLT3 mutant FLT3 exon14 FLT3 L576R |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034192A>C |
cDNA | c.1727T>G |
Protein | p.L576R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28034192A>C | c.1727T>G | p.L576R | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28034192A>C | c.1727T>G | p.L576R | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034192A>C | c.1727T>G | p.L576R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 L576R | gain of function | FLT3 Inhibitor |