SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name Q12887

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)
Q12887 COX10_HUMAN mitochondrial complex iv deficiency p.Thr196Lys
p.Asn204Lys
p.Pro225Leu
p.Gly288Arg
p.Asp336Val
p.Asp336Gly
p.Pro420Leu







Q12887 COX10_HUMAN leigh syndrome