External References:
Wikipedia
GeneCards
HUGO
COSMIC
Google Scholar
NCBI Description of ACVRL1 |
This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. |
Community Annotation of ACVRL1 Add / Edit ACVRL1: Annotations
No community annotations yet for ACVRL1.
|
Figure notes
• "Mouse over" a mutation to see details. |
|
Click on a tumor type to see its full list of significant genes.
Data details