The 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, FADS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) David Beeson and Johan den Dunnen
Total number of public variants reported 565
Unique public DNA variants reported 84
Individuals with public variants 478
Hidden variants 10
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 September 17, 2021
Version RAPSN:210917

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
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))
FADS2 (akinesia, fetal, deformation sequence, type 2 (FADS2))
HGMD RAPSN
GeneCards RAPSN
GeneTests RAPSN
Orphanet RAPSN


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000198 11 receptor-associated protein of the synapse, transcript variant 1 (expired, new version available) NM_005055.3 NP_005046.2 565


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2011-2021. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.