1 protein found in SwissVar (13 variants)
with gene/protein name Q99697
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) |
|---|---|---|---|---|
| Q99697 | PITX2_HUMAN | axenfeld-rieger syndrome 1 | p.Leu100Gln p.Pro110Arg p.Pro110Leu p.Thr114Pro p.Val129Leu p.Lys134Glu p.Arg136Cys p.Arg137Pro p.Leu151Val p.Asn154Thr |
|
| Q99697 | PITX2_HUMAN | iridogoniodysgenesis 2 | p.Arg115His p.Arg130Trp |
|
| Q99697 | PITX2_HUMAN | peters anomaly | ||
| Q99697 | PITX2_HUMAN | ring dermoid of cornea | p.Arg108His |
|