SWISSVAR

1 protein found in SwissVar (14 variants)

with gene/protein name P12755

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)
P12755 SKI_HUMAN shprintzen-goldberg craniosynostosis syndrome p.Leu21Arg
p.Ser28Thr
p.Ser31Leu
p.Leu32Val
p.Leu32Pro
p.Gly34Ser
p.Gly34Val
p.Gly34Asp
p.Gly34Ala
p.Gly34Cys
p.Pro35Ser
p.Pro35Gln
p.Gly116Glu
p.Gly117Arg