Gene 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 Symbol FGFR3
Synonyms ACH | CD333 | CEK2 | HSFGFR3EX | JTK4
Gene Description FGFR3, fibroblast growth factor receptor 3, is a receptor tyrosine kinase activated upon binding of the FGF ligand, which activates RAS-MAPK and PI3K-AKT pathways (PMID: 22508544). Altered function of FGFR3 in cancer may lead to increased cell proliferation and decreased apoptosis (PMID: 22508544) and mutations and fusions are commonly observed in bladder cancer (PMID: 30975452, PMID: 23175443).

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function FGFR3 act mut indicates that this variant results in a gain of function in the Fgfr3 protein. However, the specific amino acid change has not been identified.
fusion fusion unknown FGFR3 fusion indicates a fusion of the FGFR3 gene, but the fusion partner is unknown.
inact mut unknown loss of function FGFR3 inact mut indicates that this variant results in a loss of function of the Fgfr3 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown FGFR3 mutant indicates an unspecified mutation in the FGFR3 gene.
rearrange unknown unknown FGFR3 rearrangement indicates an unspecified rearrangement of the FGFR3 gene.