SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name Q9BT40

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)
Q9BT40 INP5K_HUMAN muscular dystrophy, congenital, with cataracts and intellectual disability p.Val23Met
p.Ile50Thr
p.Met93Val
p.Gly140Ser
p.Asp269Asn
p.Tyr300Cys
p.Ile363Thr