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