The VPS13B gene homepage

General information
Gene symbol VPS13B
Gene name vacuolar protein sorting 13 homolog B (yeast)
Chromosome 8
Chromosomal band q22-q23
Imprinted Unknown
Genomic reference NG_007098.2
Transcript reference NM_017890.3
Exon/intron information NM_017890.3 exon/intron table
Associated with diseases COH-1, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 601
Unique public DNA variants reported 439
Individuals with public variants 315
Hidden variants 14
Download all this gene's data Download all data
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created June 27, 2012
Date last updated November 08, 2021
Version VPS13B:211108

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_017890.3.
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/VPS13B
External URL Finnish Disease Database (FinDis)
HGNC 2183
Entrez Gene 157680
PubMed articles VPS13B
OMIM - Gene 607817
OMIM - Diseases COH-1 (syndrome, Cohen (COH-1))
HGMD VPS13B
GeneCards VPS13B
GeneTests VPS13B
Orphanet VPS13B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000245 8 transcript variant 5 NM_017890.3 NP_060360.3 601


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 © 2012-2021. 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.