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Gene | FLT3 |
Variant | C695S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 C695S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C695S does not alter kinase activity, dimerization, or phosphorylation of Flt3 or Erk, results in decreased viability, transformation, and Stat5 phosphorylation in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), and has been demonstrated to confer resistance to some FLT3 inhibitors (PMID: 29187377), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 exon17 FLT3 C695S |
Transcript | NM_004119.3 |
gDNA | chr13:g.28027212A>T |
cDNA | c.2083T>A |
Protein | p.C695S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |