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|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).|
|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.|