Disease Associated GO Term |
Protein Forms & Complexes |
Evidence |
DO:1270 hereditary hemorrhagic telangiectasia | PR:000000323 hACVRL1/var:D254del | UniProtKB_VAR:VAR_026793 |
Molecular Function GO Term |
Protein Forms & Complexes |
Evidence |
NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity | PR:000000323 hACVRL1/var:D254del | PMID:14684682 |
Cellular Location GO Term |
Protein Forms & Complexes |
Evidence |
GO:0005783 endoplasmic reticulum | PR:000000323 hACVRL1/var:D254del | PMID:14684682 |