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Gene | FLT3 |
Variant | S451F |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 S451F lies within the extracellular domain of the Flt3 protein (UniProt.org). S541F results in constitutive phosphorylation of Flt3, activation of Erk signaling, and is transforming in culture (PMID: 18068628). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 S451F |
Transcript | NM_004119.3 |
gDNA | chr13:g.28036001G>A |
cDNA | c.1352C>T |
Protein | p.S451F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |