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FLT3 F594C - Gene Variant Detail

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Gene FLT3
Variant F594C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FLT3 F594C lies within the juxtamembrane domain of the Flt3 protein (PMID: 29164965). F594C results in increased phosphorylation of Flt3 and Stat5 in culture (EHA, June 2017, abstr P184), 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 F594C

FLT3 mutant FLT3 exon14 FLT3 F594C

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Transcript NM_004119.3
gDNA chr13:g.28034138A>C
cDNA c.1781T>G
Protein p.F594C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119.3 chr13:g.28034138A>C c.1781T>G p.F594C RefSeq GRCh38/hg38
NM_004119 chr13:g.28034138A>C c.1781T>G p.F594C RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28034138A>C c.1781T>G p.F594C 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