PR:000000057 TGF-beta receptor type-2 sequence variant G357W (human) hTGFBR2/var:G357W|TGF-beta receptor type-2 sequence variant 16 (human)|UniProtKB:P37173-1, Gly-357, CHEBI:29954 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022354 20080301 PRO:CNA