SWISSVAR
Home  |  Contact

1 protein found in SwissVar (10 variants)

with gene/protein name P41229

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)
P41229 KDM5C_HUMAN mental retardation, x-linked, syndromic, claes-jensen type p.Asp87Gly
p.Ala388Pro
p.Asp402Tyr
p.Ser451Arg
p.Pro480Leu
p.Phe642Leu
p.Glu698Lys
p.Leu731Phe
p.Arg750Trp
p.Tyr751Cys