SWISSVAR
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This service is no longer maintained and will be discontinued as of UniProtKB release 2020_04 of August 12th, 2020.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 Q6SJ93

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)
Q6SJ93 F111B_HUMAN poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis p.Tyr621Asp
p.Arg627Gly
p.Ser628Asn