Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

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

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.

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 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
NM_004119.3 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

  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries