1 protein found in SwissVar (9 variants)
with gene/protein name O14521
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) |
|---|---|---|---|---|
| O14521 | DHSD_HUMAN | p.Gly12Ser p.His50Arg p.His145Asn |
| |
| O14521 | DHSD_HUMAN | paragangliomas 1 | p.Pro81Leu p.Asp92Tyr p.His102Leu p.Tyr114Cys p.Leu139Pro p.Gly148Val |
|
| O14521 | DHSD_HUMAN | pheochromocytoma | p.Pro81Leu p.Asp92Tyr |
|
| O14521 | DHSD_HUMAN | intestinal carcinoid tumor | ||
| O14521 | DHSD_HUMAN | paraganglioma and gastric stromal sarcoma | ||
| O14521 | DHSD_HUMAN | cowden-like syndrome |