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 |