SWISSVAR
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1 protein found in SwissVar (15 variants)

with gene/protein name O14802

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)
O14802 RPC1_HUMAN leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism p.Pro91Leu
p.Trp310Cys
p.Asp372Asn
p.Ala387Gly
p.Phe558Leu
p.Ser602Arg
p.Ser636Tyr
p.Gly672Glu
p.Cys724Tyr
p.Asn775Ile
p.Ile804Thr
p.Met852Val
p.Ile897Asn
p.Arg1005Cys
p.Glu1261Lys