LOVD IKBKAP homepage

General information
Gene name inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Gene symbol IKBKAP
Chromosome Location 9q31
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen
Database reference for citations PMID9751059 PMID11179008
PubMed references View all (unique) PubMed references in the IKBKAP database
Date of creation May 23, 2012
Last update March 29, 2013
Version IKBKAP130329
Add sequence variant Submit a sequence variant
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Genomic refseq ID NG_008788.1
Transcript refseq ID NM_003640.3
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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NOTE Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the IKBKAP database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 5959
Entrez Gene 8518
OMIM - Gene 603722
OMIM - Disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
UniProtKB (SwissProt/TrEMBL) O95163
HGMD IKBKAP
GeneCards IKBKAP
GeneTests IKBKAP

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 © 2014. 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.