SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name O75712

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)
O75712 CXB3_HUMAN erythrokeratodermia variabilis et progressiva 1 p.Gly12Arg
p.Gly12Asp
p.Arg42Pro
p.Cys86Ser
p.Phe137Leu





O75712 CXB3_HUMAN deafness, autosomal dominant, 2b p.Ile141Val
p.Glu183Lys