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 |
|