SWISSVAR

1 protein found in SwissVar (13 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 p.Asn13Ser
p.Trp101Gly


Q13485 SMAD4_HUMAN pancreatic carcinoma p.Asp493His
1DD1C (493)
Q13485 SMAD4_HUMAN pancreatic cancer
Q13485 SMAD4_HUMAN juvenile polyposis syndrome p.Glu330Gly
p.Gly352Arg
p.Arg361Cys
1DD1A (330)
1DD1A (352)
1G88C (361)
Q13485 SMAD4_HUMAN juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome p.Gly352Arg
p.Gly386Asp
1DD1A (352)
1DD1A (386)
Q13485 SMAD4_HUMAN colorectal cancer p.Pro130Ser
p.Asp351Asn
p.Arg361His

1DD1B (351)
1G88C (361)
Q13485 SMAD4_HUMAN pulmonary hypertension
Q13485 SMAD4_HUMAN myhre syndrome p.Ile500Thr
p.Ile500Met
p.Ile500Val