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1 protein found in SwissVar (10 variants)

with gene/protein name Q13485

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q13485 SMAD4_HUMAN pancreatic cancer
Q13485 SMAD4_HUMAN juvenile polyposis syndrome p.Glu330Gly
p.Gly352Arg
p.Arg361Cys



Q13485 SMAD4_HUMAN juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome p.Gly352Arg
p.Gly386Asp


Q13485 SMAD4_HUMAN colorectal cancer p.Pro130Ser
p.Asp351Asn
p.Arg361His



Q13485 SMAD4_HUMAN pulmonary hypertension
Q13485 SMAD4_HUMAN myhre syndrome p.Ile500Thr
p.Ile500Met
p.Ile500Val