1 protein found in SwissVar (8 variants)
with gene/protein name Q8NF50
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) |
|---|---|---|---|---|
| Q8NF50 | DOCK8_HUMAN | p.Pro97Thr p.Glu169Lys p.Glu237Lys p.Asn413Ser p.Ala597Val p.Arg1008Trp p.Ala1970Pro |
| |
| Q8NF50 | DOCK8_HUMAN | hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive | p.Lys473Arg |
|
| Q8NF50 | DOCK8_HUMAN | mental retardation, autosomal dominant 2 |