PR:000000334 hACVRL1/var:R374W UniProtKB:P37023, Arg-374, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 25 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-374 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-374, CHEBI:29954." [PMID:11170071, PMID:14684682, PMID:15712270, PMID:9245985, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:11170071; PMID:14684682; PMID:15712270; PMID:9245985 |