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 C694S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FLT3 C694S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C694S does not alter dimerization but results in decreased kinase activity, phosphorylation of Flt3, Stat5, and Erk, and transformation in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FLT3 mutant FLT3 exon17 FLT3 C694S

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.28027215A>T
cDNA c.2080T>A
Protein p.C694S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119.3 chr13:g.28027215A>T c.2080T>A p.C694S RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28027215A>T c.2080T>A p.C694S 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 C694S unknown
FLT3 exon 14 ins FLT3 C694S