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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), while FGFR3 overexpression only in bladder cancer may have different treatment implications (PMID: 32682615).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
2261 4 4p16.3 NM_000142 Oncogene (PMID: 30606230)

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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.
G66fs frameshift no effect - predicted FGFR3 G66fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 66 of 806, likely resulting in premature truncation of the functional protein (UniProt.org). G66fs results in proliferation similar to wild-type Fgfr3 in a competition assay and transformation activity similar to wild-type Fgfr3 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr3 protein function.
H284fs frameshift gain of function - predicted FGFR3 H284fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 284 of 806, likely resulting in premature truncation of the functional protein (UniProt.org). H284fs results in proliferation similar to wild-type Fgfr3 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
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.
K403fs frameshift no effect - predicted FGFR3 K403fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 403 of 806, likely resulting in premature truncation of the functional protein (UniProt.org). K403fs results in proliferation similar to wild-type Fgfr3 in a competition assay and transformation activity similar to wild-type Fgfr3 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr3 protein function.
L794fs frameshift unknown FGFR3 L794fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 794 of 806, likely resulting in a premature truncation of the functional protein (UniProt.org). L794fs has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2024).
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.
S400fs frameshift loss of function - predicted FGFR3 S400fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 400 of 806, likely resulting in a premature truncation of the functional protein (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), S400fs is predicted to lead to a loss of Fgfr3 protein function.
T311fs frameshift no effect - predicted FGFR3 T311fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 311 of 806, likely resulting in premature truncation of the functional protein (UniProt.org). T311fs results in proliferation similar to wild-type Fgfr3 in a competition assay and transformation activity similar to wild-type Fgfr3 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr3 protein function.