PR:000000331 serine/threonine-protein kinase receptor R3 sequence variant C344Y (human) hACVRL1/var:C344Y|serine/threonine-protein kinase receptor R3 sequence variant 22 (human)|UniProtKB:P37023, Cys-344, CHEBI:46858 NOT capable_of GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026798 20080301 PRO:CNA PR:000000331 serine/threonine-protein kinase receptor R3 sequence variant C344Y (human) hACVRL1/var:C344Y|serine/threonine-protein kinase receptor R3 sequence variant 22 (human)|UniProtKB:P37023, Cys-344, CHEBI:46858 located_in GO:0005783 endoplasmic reticulum PMID:14684682 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026798 20080301 PRO:CNA PR:000000331 serine/threonine-protein kinase receptor R3 sequence variant C344Y (human) hACVRL1/var:C344Y|serine/threonine-protein kinase receptor R3 sequence variant 22 (human)|UniProtKB:P37023, Cys-344, CHEBI:46858 associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:10767348|PMID:14684682 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026798 20080301 PRO:CNA