SWISSVAR
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1 protein found in SwissVar (18 variants)

with gene/protein name P63261

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)
P63261 ACTG_HUMAN deafness, autosomal dominant, 20 p.Thr89Ile
p.Lys118Asn
p.Lys118Met
p.Ile122Val
p.Asp187His
p.Glu241Lys
p.Pro264Leu
p.Thr278Ile
p.Glu316Lys
p.Pro332Ala
p.Val370Ala











P63261 ACTG_HUMAN baraitser-winter syndrome 2 p.Thr120Ile
p.Ala135Val
p.Ser155Phe
p.Thr203Lys
p.Arg254Trp
p.Arg256Trp






P63261 ACTG_HUMAN isolated coloboma p.Pro70Leu