SWISSVAR
Home  |  Contact

1 protein found in SwissVar (14 variants)

with gene/protein name Q86UK0

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)
Q86UK0 ABCAC_HUMAN ichthyosis, congenital, autosomal recessive 4a p.Thr345Pro
p.Gly1136Asp
p.Trp1235Ser
p.Asn1380Ser
p.Gly1381Glu
p.Ile1494Thr
p.Arg1514His
p.Glu1539Lys
p.Gly1559Val
p.Gly1651Ser
p.Pro1798Leu
p.Thr1980Lys












Q86UK0 ABCAC_HUMAN ichthyosis, congenital, autosomal recessive 4b p.Ser387Asn
p.Gly1179Arg