SWISSVAR

1 protein found in SwissVar (3 variants)

with gene/protein name P07510

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)
P07510 ACHG_HUMAN p.Ala149Thr

P07510 ACHG_HUMAN multiple pterygium syndrome, lethal type p.Val107Gly
p.Arg239Cys


P07510 ACHG_HUMAN multiple pterygium syndrome, escobar variant p.Val107Gly
p.Arg239Cys