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Gene | FLT3 |
Variant | C681S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 C681S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C681S does not alter dimerization but moderately reduces Flt3 kinase activity and phosphorylation of Flt3, Stat5, and Erk, and transformation activity in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 exon16 FLT3 C681S |
Transcript | NM_004119.3 |
gDNA | chr13:g.28028190A>T |
cDNA | c.2041T>A |
Protein | p.C681S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28028190A>T | c.2041T>A | p.C681S | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28028190A>T | c.2041T>A | p.C681S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 C681S | unknown | |
FLT3 exon 14 ins FLT3 C681S |