SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name P31415

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)
P31415 CASQ1_HUMAN myopathy, vacuolar, with casq1 aggregates p.Asp244Gly

P31415 CASQ1_HUMAN myopathy, tubular aggregate, 1 p.Asp44Asn
p.Gly103Asp
p.Ile385Thr