SWISSVAR

1 protein found in SwissVar (19 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 p.Pro79Leu
p.Pro79Thr
p.Pro79Arg
p.Ser82Thr
p.Leu86Phe
p.Ile87Met
p.Ile91Thr
p.Ile91Ser
p.Tyr115Ser
p.Ile126Met
p.Arg127His
p.Ser131Leu
p.Gly149Asp
p.Met161Val
p.Met161Lys
p.Gly165Arg
p.Arg169Pro

















Q12948 FOXC1_HUMAN axenfeld-rieger syndrome 3 p.Leu130Phe

Q12948 FOXC1_HUMAN iridogoniodysgenesis anomaly p.Phe112Ser

Q12948 FOXC1_HUMAN peters anomaly p.Phe112Ser