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|Synonyms||BBDS | BEK | BFR-1 | CD332 | CEK3 | CFD1 | ECT1 | JWS | K-SAM | KGFR | TK14 | TK25|
|Gene Description||FGFR2, fibroblast growth factor receptor 2, 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 FGFR2 through activating mutations, fusions, and amplification increases cell proliferation and tumorigenesis (PMID: 22508544) and is observed in prostate (PMID: 30761180), breast, lung, uterine, and ovarian cancers (PMID: 29104507), while FGFR2 amplification (PMID: 31076567) and overexpression (PMID: 30662521) is commonly observed in gastric cancer.|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||FGFR2 act mut indicates that this variant results in a gain of function in the Fgfr2 protein. However, the specific amino acid change has not been identified.|
|fusion||fusion||unknown||FGFR2 fusion indicates a fusion of the FGFR2 gene, but the fusion partner is unknown.|
|inact mut||unknown||loss of function||FGFR2 inact mut indicates that this variant results in a loss of function of the Fgfr2 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||FGFR2 mutant indicates an unspecified mutation in the FGFR2 gene.|
|rearrange||unknown||unknown||FGFR2 rearrangement indicates an unspecified rearrangement of the FGFR2 gene.|
|G183fs||frameshift||loss of function - predicted||FGFR2 G183fs results in a change in the amino acid sequence of the Fgfr2 protein beginning at aa 183 of 821, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), G183fs is predicted to lead to a loss of Fgfr2 function.|
|T764fs||frameshift||unknown||FGFR2 T764fs results in a change in the amino acid sequence of the Fgfr2 protein beginning at aa 764 of 821, likely resulting in premature truncation of the functional protein (UniProt.org). T764fs has not been characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2020).|