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|Synonyms||bFGF-R-1 | BFGFR | CD331 | CEK | ECCL | FGFBR | FGFR-1 | FLG | FLT-2 | FLT2 | HBGFR | HH2 | HRTFDS | KAL2 | N-SAM | OGD|
|Gene Description||FGFR1, fibroblast growth factor receptor 1, 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 Fgfr1 may lead to increased cell proliferation and decreased apoptosis (PMID: 22508544) and amplification and/or overexpression has been identified in colorectal cancer (PMID: 30181810), gastric cancer (PMID: 29976636), and breast cancer (PMID: 30119151).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||FGFR1 act mut indicates that this variant results in a gain of function in the Fgfr1 protein. However, the specific amino acid change has not been identified.|
|fusion||fusion||unknown||FGFR1 fusion indicates a fusion of the FGFR1 gene, but the fusion partner is unknown.|
|inact mut||unknown||loss of function||FGFR1 inact mut indicates that this variant results in a loss of function of the Fgfr1 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||FGFR1 mutant indicates an unspecified mutation in the FGFR1 gene.|
|rearrange||unknown||unknown||FGFR1 rearrangement indicates an unspecified rearrangement of the FGFR1 gene.|
|N193fs||frameshift||loss of function - predicted||FGFR1 N193fs results in a change in the amino acid sequence of the Fgfr1 protein beginning at aa 193 of 822, likely resulting in premature truncation of the functional protein (UniProt.org). N193fs results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.|