SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name Q15046

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)
Q15046 SYK_HUMAN charcot-marie-tooth disease, recessive, intermediate type, b p.Leu105His
p.Ile274Met


Q15046 SYK_HUMAN deafness, autosomal recessive, 89 p.Tyr145His
p.Asp349Asn