The NBEAL2 gene homepage

General information
Gene symbol NBEAL2
Gene name neurobeachin-like 2
Chromosome 3
Chromosomal band p21.31
Imprinted Unknown
Genomic reference NG_031914.1
Transcript reference NM_015175.2
Associated with diseases Gray platelet syndrome
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 49
Unique public DNA variants reported 39
Individuals with public variants 10
Hidden variants 1
Date created May 03, 2013
Date last updated September 15, 2020
Version NBEAL2:200915

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
HGNC 31928
Entrez Gene 23218
PubMed articles NBEAL2
OMIM - Gene 614169
OMIM - Diseases Gray platelet syndrome
Orphanet NBEAL2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014312 3 neurobeachin-like 2 NM_015175.2 NP_055990.1 49


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 © 2013-2021. 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 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.