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Gene FLT3
Variant F594L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FLT3 F594L lies within the juxtamembrane domain of the Flt3 protein (PMID: 29164965). F594L results in constitutive phosphorylation of Flt3, activation of Stat5 signaling, and is transforming in culture (PMID: 16410449).
Associated Drug Resistance
Category Variants Paths

FLT3 mutant FLT3 act mut FLT3 F594L

FLT3 mutant FLT3 exon14 FLT3 F594L

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Transcript NM_004119.3
gDNA chr13:g.28034139A>G
cDNA c.1780T>C
Protein p.F594L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119.2 chr13:g.28034139A>G c.1780T>C p.F594L RefSeq GRCh38/hg38
NM_004119.3 chr13:g.28034139A>G c.1780T>C p.F594L RefSeq GRCh38/hg38
NM_004119 chr13:g.28034139A>G c.1780T>C p.F594L 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
FLT3 F594L gain of function FLT3 Inhibitor