RAPSN gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol RAPSN
Gene name receptor-associated protein of the synapse
Chromosome 11
Chromosomal band p11.2
Imprinted Unknown
Genomic reference NG_008312.1
Transcript reference NM_005055.3
Associated with diseases CMS-11, FADS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) David Beeson and Johan den Dunnen
Total number of public variants reported 554
Unique public DNA variants reported 83
Individuals with public variants 419
Hidden variants 4
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
We gratefully acknowledge the Hogeschool Leiden, in particular student Marianne Versteeg, for valuable help establishing this database.
Date created February 01, 2011
Date last updated January 12, 2019
Version RAPSN:190112

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/RAPSN
External URL Orphanet
HGNC 9863
Entrez Gene 5913
PubMed articles RAPSN
OMIM - Gene 601592
OMIM - Diseases CMS-11 (myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency (CMS-11))
FADS (akinesia, fetal, deformation sequence (FADS))
GeneCards RAPSN
GeneTests RAPSN

Active transcripts




NCBI ID     

NCBI Protein ID     

00000198 11 receptor-associated protein of the synapse, transcript variant 1 (expired, new version available) NM_005055.3 NP_005046.2 554

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.