SWISSVAR
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1 protein found in SwissVar (6 variants)

with gene/protein name Q8IXQ5

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)
Q8IXQ5 KLHL7_HUMAN crisponi/cold-induced sweating syndrome 3 p.Arg372Gln
p.Arg420Cys
p.Cys421Ser



Q8IXQ5 KLHL7_HUMAN retinitis pigmentosa 42 p.Ser150Asn
p.Ala153Thr
p.Ala153Val