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1 protein found in SwissVar (8 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 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
O14521 DHSD_HUMAN mitochondrial complex ii deficiency p.Glu69Lys
p.Asp92Gly