1 protein found in SwissVar (13 variants)
with gene/protein name Q96MT3
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) |
|---|---|---|---|---|
| Q96MT3 | PRIC1_HUMAN | p.Ile69Thr p.Asn81His p.Val121Ile p.Ala124Thr p.Thr275Met p.Arg682Cys p.Ser739Phe p.Pro746Ser p.Asp771Asn p.Ser799Cys |
| |
| Q96MT3 | PRIC1_HUMAN | epilepsy, progressive myoclonic 1b | p.Arg104Gln p.Arg144His p.Tyr472His |
|
| Q96MT3 | PRIC1_HUMAN | neural tube defects |