SWISSVAR
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1 protein found in SwissVar (10 variants)

with gene/protein name Q9Y5Q3

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)
Q9Y5Q3 MAFB_HUMAN multicentric carpotarsal osteolysis syndrome p.Ser54Leu
p.Pro59Leu
p.Thr62Pro
p.Pro63Arg
p.Ser66Cys
p.Ser69Leu
p.Ser70Ala
p.Ser70Leu
p.Pro71Ser
p.Pro71Leu










Q9Y5Q3 MAFB_HUMAN duane retraction syndrome 3 with or without deafness