SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name P50443

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)
P50443 S26A2_HUMAN diastrophic dysplasia
P50443 S26A2_HUMAN achondrogenesis 1b p.Asn425Asp
p.Gly678Val


P50443 S26A2_HUMAN atelosteogenesis 2 p.Gly255Glu
p.Arg279Trp
p.Ala715Val



P50443 S26A2_HUMAN multiple epiphyseal dysplasia 4 p.Phe256Ser
p.Arg279Trp
p.Cys653Ser
p.Ala715Val