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Protein Ontology report - serine/threonine-protein kinase receptor R3 sequence variant R374Q (human) PR:000000333 - http://purl.obolibrary.org/obo/PR_000000333        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000333      PRO name serine/threonine-protein kinase receptor R3 sequence variant R374Q (human)    Synonyms PRO-Short-label: EXACT: hACVRL1/var:R374Q PRO-proteoform-std: EXACT: UniProtKB:P37023, Arg-374, CHEBI:30011 Other: EXACT: serine/threonine-protein kinase receptor R3 sequence variant 24 (human)   Definition "A serine/threonine-protein kinase receptor R3 (human) that has a Gln residue at the position equivalent to Arg-374 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-374, CHEBI:30011." [PMID:14684682, PMID:15024723, PRO:CNA, PRO:DAN]    PRO Category organism-sequence    Parent PR:P37023 serine/threonine-protein kinase receptor R3 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_026800 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000333 hACVRL1/var:R374Q UniProtKB:P37023, Arg-374, CHEBI:30011 associated_with_disease_progression DO:1270 hereditary hemorrhagic telangiectasia PMID:14684682; PMID:15024723 enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682 located_in GO:0005783 endoplasmic reticulum PMID:14684682