SWISSVAR

1 protein found in SwissVar (9 variants)

with gene/protein name P49918

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)
P49918 CDN1C_HUMAN beckwith-wiedemann syndrome p.Met12Leu
p.Leu53Pro
p.Pro70Leu
p.Pro158Ala




P49918 CDN1C_HUMAN intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies p.Asp274Asn
p.Phe276Ser
p.Phe276Val
p.Lys278Glu
p.Arg279Pro