PR:000000353 hACVRL1/var:R484W UniProtKB:P37023, Arg-484, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 42 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-484 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-484, CHEBI:29954." [PMID:11484689, PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:11484689; PMID:15024723 |