1 protein found in SwissVar (2 variants)

with gene/protein name Q12948

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)
Q12948 FOXC1_HUMAN axenfeld-rieger syndrome 3 p.Leu130Phe

Q12948 FOXC1_HUMAN iridogoniodysgenesis anomaly p.Phe112Ser

Q12948 FOXC1_HUMAN peters anomaly p.Phe112Ser