SWISSVAR

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 individual with features of cowden syndrome p.His145Asn

O14521 DHSD_HUMAN p.Gly12Ser
p.His50Arg


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 syndrome 3