PR:000000059 TGF-beta receptor type-2 sequence variant Y336N (human) hTGFBR2/var:Y336N|TGF-beta receptor type-2 sequence variant 3 (human)|UniProtKB:P37173-1, Tyr-336, CHEBI:50347 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022352 20080301 PRO:CNA