SWISSVAR
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1 protein found in SwissVar (13 variants)

with gene/protein name P51812

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)
P51812 KS6A3_HUMAN coffin-lowry syndrome p.Gly75Val
p.Val82Phe
p.Arg114Trp
p.His127Gln
p.Asp154Tyr
p.Ile189Lys
p.Ala225Val
p.Ser227Ala
p.Phe268Ser
p.Gly431Asp
p.Arg729Gln











P51812 KS6A3_HUMAN mental retardation, x-linked 19 p.Thr115Ser
p.Arg383Trp