TGFBR1 Back

transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)

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NCBI Description of TGFBR1
The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of TGFBR1 Add / Edit TGFBR1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

TGFBR1 is highly significantly mutated in
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TGFBR1 is significantly mutated in
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TGFBR1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for TGFBR1