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This service is no longer maintained and will be discontinued as of UniProtKB release 2020_04 of August 12th, 2020.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 (4 variants)

with gene/protein name Q9P2R6

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)
Q9P2R6 RERE_HUMAN neuroblastoma cell line ngp
Q9P2R6 RERE_HUMAN neurodevelopmental disorder with or without anomalies of the brain, eye, or heart p.Val471Ile