SWISSVAR

1 protein found in SwissVar (9 variants)

with gene/protein name Q93063

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)
Q93063 EXT2_HUMAN p.Met42Val

Q93063 EXT2_HUMAN osteochondroma p.Glu576Lys

Q93063 EXT2_HUMAN hereditary multiple exostoses 2 p.Cys85Arg
p.Leu152Arg
p.Arg179Ser
p.Ala202Val
p.Arg223Pro
p.Asp227Asn
p.Ile380Thr







Q93063 EXT2_HUMAN potocki-shaffer syndrome