PR:000000333 hACVRL1/var:R374Q UniProtKB:P37023, Arg-374, CHEBI:30011 | serine/threonine-protein kinase receptor R3 sequence variant 24 (human) "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] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682; PMID:15024723 |