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1 protein found in SwissVar (30 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.Pro79Leu
p.Pro79Thr
p.Pro79Arg
p.Ser82Thr
p.Ala85Pro
p.Leu86Phe
p.Ile87Met
p.Ile91Thr
p.Ile91Ser
p.Phe112Ser
p.Tyr115Ser
p.Ile126Met
p.Ile126Ser
p.Arg127Leu
p.Arg127His
p.His128Arg
p.Leu130Phe
p.Ser131Leu
p.Cys135Tyr
p.Gly149Asp
p.Met161Val
p.Met161Lys
p.Gly165Arg
p.Arg169Pro
p.Arg170Trp

























Q12948 FOXC1_HUMAN anterior segment dysgenesis 3 p.Met109Val
p.Phe112Ser
p.Ile126Met
p.Ser131Leu
p.Ser131Trp
p.Lys138Glu
p.Trp152Gly
p.Met161Lys
p.Pro297Ser