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 F590_Y591delinsGD
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions FLT3 F590_Y591delinsGD results in a deletion of 2 amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 590 to 591, combined with the insertion of a glycine (G) and an aspartic acid (D) at the same site (PMID: 11756186). F590_Y591delinsGD results in constitutive phosphorylation of Flt3, activation of Stat5 signaling, and transformation of cells in culture (PMID: 16410449).
Associated Drug Resistance
Category Variants Paths

FLT3 mutant FLT3 act mut FLT3 F590_Y591delinsGD

FLT3 mutant FLT3 exon14 FLT3 F590_Y591delinsGD

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.28034146_28034151delinsGTCACC
cDNA c.1768_1773delinsGGTGAC
Protein p.F590_Y591delinsGD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119 chr13:g.28034146_28034151delinsGTCACC c.1768_1773delinsGGTGAC p.F590_Y591delinsGD RefSeq GRCh38/hg38
NM_004119.3 chr13:g.28034146_28034151delinsGTCACC c.1768_1773delinsGGTGAC p.F590_Y591delinsGD RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28034146_28034151delinsGTCACC c.1768_1773delinsGGTGAC p.F590_Y591delinsGD 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 F590_Y591delinsGD gain of function FLT3 Inhibitor