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 | p.Arg266Cys |
|
| Q9NR23 | GDF3_HUMAN | microphthalmia, isolated, with coloboma, 6 | p.Arg266Cys p.Arg274Trp |
|
| Q9NR23 | GDF3_HUMAN | microphthalmia, isolated, 7 | p.Arg195Gln p.Leu305Pro |
|