rs104893811
This is a variant in the TGFBR2 gene that changes a arginine to an glycine.
▶ClinVar annotation
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
View on ClinVar →About TGFBR2
The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
View all TGFBR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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