SWISSVAR
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1 protein found in SwissVar (11 variants)

with gene/protein name Q14CZ8

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)
Q14CZ8 HECAM_HUMAN leukoencephalopathy, megalencephalic, with subcortical cysts, 2a p.Leu23His
p.Arg92Gln
p.Arg98Cys
p.Pro148Ser
p.Ser196Tyr
p.Asp211Asn






Q14CZ8 HECAM_HUMAN leukoencephalopathy, megalencephalic, with subcortical cysts, 2b p.Gly89Ser
p.Gly89Asp
p.Arg92Trp
p.Asp128Asn
p.Arg288Cys