SWISSVAR

1 protein found in SwissVar (11 variants)

with gene/protein name Q92908

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)
Q92908 GATA6_HUMAN p.Gly15Arg

Q92908 GATA6_HUMAN conotruncal heart malformations p.Asn466His

Q92908 GATA6_HUMAN atrial septal defect 9 p.Ser184Asn

Q92908 GATA6_HUMAN tetralogy of fallot p.Ser184Asn
p.Leu198Val


Q92908 GATA6_HUMAN atrioventricular septal defect 5 p.Ala178Val

Q92908 GATA6_HUMAN pancreatic agenesis and congenital heart defects p.Thr452Ala
p.Arg456Cys
p.Arg456His
p.Asn466Asp
p.Ala467Thr
p.Lys473Gln