SWISSVAR

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