SWISSVAR

1 protein found in SwissVar (6 variants)

with gene/protein name Q9NR23

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)
Q9NR23 GDF3_HUMAN p.Gly213Arg
p.Val328Leu


Q9NR23 GDF3_HUMAN klippel-feil syndrome 3, autosomal dominant p.Arg266Cys

Q9NR23 GDF3_HUMAN microphthalmia, isolated, with coloboma, 6 p.Arg266Cys
p.Arg274Trp


Q9NR23 GDF3_HUMAN microphthalmia, isolated, 7 p.Arg195Gln
p.Leu305Pro