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@genomenon.com

Gene FLT3
Variant F594_R595insGTGSSDNEYFYVDF
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions FLT3 F594_R595insGTGSSDNEYFYVDF results in the insertion of 14 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 594 and 595 (PMID: 14759363). F594_R595insGTGSSDNEYFYVDF has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
Associated Drug Resistance
Category Variants Paths

FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 F594_R595insGTGSSDNEYFYVDF

FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 F594_R595insGTGSSDNEYFYVDF

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.28034136_28034137insAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTACC
cDNA c.1782_1783insGGTACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTT
Protein p.F594_R595insGTGSSDNEYFYVDF
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119.3 chr13:g.28034136_28034137insAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTACC c.1782_1783insGGTACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTT p.F594_R595insGTGSSDNEYFYVDF RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28034136_28034137insAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTACC c.1782_1783insGGTACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTT p.F594_R595insGTGSSDNEYFYVDF 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 F594_R595insGTGSSDNEYFYVDF gain of function - predicted FLT3 Inhibitor