SWISSVAR
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1 protein found in SwissVar (8 variants)

with gene/protein name Q96D53

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)
Q96D53 COQ8B_HUMAN nephrotic syndrome 9 p.Leu98Arg
p.Arg178Trp
p.Asp286Gly
p.Pro310Leu
p.Arg320Trp
p.Arg343Trp
p.Arg477Gln
p.Ala498Glu