SWISSVAR
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1 protein found in SwissVar (14 variants)

with gene/protein name Q9Y6K1

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)
Q9Y6K1 DNM3A_HUMAN tatton-brown-rahman syndrome p.Ile310Asn
p.Tyr365Cys
p.Asp529Asn
p.Gly532Ser
p.Met548Lys
p.Cys549Arg
p.Leu648Pro
p.Pro700Leu
p.Arg749Cys
p.Arg771Gln
p.Val778Gly
p.Asn838Asp
p.Phe902Ser
p.Pro904Leu