1 protein found in SwissVar (5 variants)
with gene/protein name Q99453
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) |
|---|---|---|---|---|
| Q99453 | PHX2B_HUMAN | p.Arg100Leu p.Arg141Gly p.Gly197Asp |
| |
| Q99453 | PHX2B_HUMAN | congenital central hypoventilation syndrome | p.Arg141Gln p.Gln143Arg |
|
| Q99453 | PHX2B_HUMAN | neuroblastoma 2 |
