Home  |  Contact
This service is no longer maintained and will be discontinued as of UniProtKB release 2020_04 of August 12th, 2020. Much of the data in SwissVar is available via the UniProt Knowledgebase. Please don't hesitate to contact the UniProt helpdesk in case of questions.

1 protein found in SwissVar (3 variants)

with gene/protein name Q53GS7

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)
Q53GS7 GLE1_HUMAN lethal congenital contracture syndrome 1 p.Arg569His

Q53GS7 GLE1_HUMAN congenital arthrogryposis with anterior horn cell disease p.Val617Met