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Gene FLT3
Variant C790S
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FLT3 C790S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C790S does not alter kinase activity, dimerization, cytokine-independent growth, or phosphorylation of Flt3 or Erk but results in increased colony formation and phosphorylation of Stat5 in the context of FLT3 internal tandem duplication (FLT3-ITD) and results in increased kinase activity compared to wild-type Flt3 in cultured cells (PMID: 31606550), and therefore, is predicted to lead to a gain of Flt3 protein function.
Associated Drug Resistance
Category Variants Paths

FLT3 mutant FLT3 act mut FLT3 C790S

FLT3 mutant FLT3 exon19 FLT3 C790S

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Transcript NM_004119.3
gDNA chr13:g.28023400A>T
cDNA c.2368T>A
Protein p.C790S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119.3 chr13:g.28023400A>T c.2368T>A p.C790S RefSeq GRCh38/hg38
XM_047430216.1 chr13:g.28004141A>T c.2368T>A p.C790S RefSeq GRCh38/hg38
XM_011535018.3 chr13:g.28004141A>T c.2368T>A p.C790S RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28023400A>T c.2368T>A p.C790S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References