PRO_ID Object_term Object_syny Modifier Relation Ontology_ID Ontology_term Relative_to Interaction_with Evidence_source Evidence_code Taxon Inferred_from DB_ID Date Assigned_by Comment PR:000000323 serine/threonine-protein kinase receptor R3 sequence variant D254del (human) hACVRL1/var:D254del|serine/threonine-protein kinase receptor R3 sequence variant 15 (human)|UniProtKB:P37023, 22-253, 255-503 associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026793 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026793 20080301 PRO:CNA PR:000000323 serine/threonine-protein kinase receptor R3 sequence variant D254del (human) hACVRL1/var:D254del|serine/threonine-protein kinase receptor R3 sequence variant 15 (human)|UniProtKB:P37023, 22-253, 255-503 located_in GO:0005783 endoplasmic reticulum PMID:14684682 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026793 20080301 PRO:CNA PR:000000323 serine/threonine-protein kinase receptor R3 sequence variant D254del (human) hACVRL1/var:D254del|serine/threonine-protein kinase receptor R3 sequence variant 15 (human)|UniProtKB:P37023, 22-253, 255-503 NOT enables GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026793 20080301 PRO:CNA