FGFR1IIIc

FGFR1IIIc is a variant of the fibroblast growth factor receptor 1 (FGFR1) gene, which is located on chromosome 8p11.2. FGFR1IIIc is a splice variant of FGFR1, resulting from the inclusion of an alternative exon 8. This variant is characterized by the presence of a 20-amino-acid insertion in the juxtamembrane domain of the receptor. The FGFR1IIIc variant is associated with several clinical conditions, including craniosynostosis, craniofacial abnormalities, and skeletal dysplasias. It is also implicated in the development of certain types of cancer, such as glioblastoma and breast cancer. The FGFR1IIIc variant is detected through genetic testing, and its presence can guide clinical management and treatment decisions. Further research is ongoing to fully understand the molecular mechanisms underlying the effects of FGFR1IIIc and to develop targeted therapies for associated conditions.