SWISSVAR

1 protein found in SwissVar (13 variants)

with gene/protein name Q99697

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)
Q99697 PITX2_HUMAN axenfeld-rieger syndrome 1 p.Leu100Gln
p.Pro110Arg
p.Pro110Leu
p.Thr114Pro
p.Val129Leu
p.Lys134Glu
p.Arg136Cys
p.Arg137Pro
p.Leu151Val
p.Asn154Thr










Q99697 PITX2_HUMAN iridogoniodysgenesis 2 p.Arg115His
p.Arg130Trp


Q99697 PITX2_HUMAN peters anomaly
Q99697 PITX2_HUMAN ring dermoid of cornea p.Arg108His