1 protein found in SwissVar (16 variants)
with gene/protein name Q5JVL4
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) |
|---|---|---|---|---|
| Q5JVL4 | EFHC1_HUMAN | p.Arg159Trp p.Ile174Val p.Arg182His p.Cys259Tyr p.Arg285Ile p.Arg294His p.Glu357Lys p.Ala394Ser p.Met448Thr p.Ile619Leu |
| |
| Q5JVL4 | EFHC1_HUMAN | juvenile myoclonic epilepsy 1 | p.Pro77Thr p.Asp210Asn p.Arg221His p.Phe229Leu p.Asp253Tyr p.Arg353Trp |
|
| Q5JVL4 | EFHC1_HUMAN | juvenile absence epilepsy 1 |