1 protein found in SwissVar (3 variants)
with gene/protein name P07510
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) |
|---|---|---|---|---|
| P07510 | ACHG_HUMAN | p.Ala149Thr |
| |
| P07510 | ACHG_HUMAN | multiple pterygium syndrome, lethal type | p.Val107Gly p.Arg239Cys |
|
| P07510 | ACHG_HUMAN | multiple pterygium syndrome, escobar variant | p.Val107Gly p.Arg239Cys |
|
