Gene Variant Detail

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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

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Transcript NM_004119.2
gDNA chr13:g.28027212A>T
cDNA c.2083T>A
Protein p.C695S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119 chr13:g.28027212A>T c.2083T>A p.C695S RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28027212A>T c.2083T>A p.C695S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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