SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name Q14118

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)
Q14118 DAG1_HUMAN muscular dystrophy-dystroglycanopathy limb-girdle c9 p.Val74Ile
p.Asp111Asn
p.Thr192Met



Q14118 DAG1_HUMAN muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9 p.Cys669Phe