SWISSVAR

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