Gene Detail


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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).


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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.