VHL gene homepage

This database is one of the "Paraganglioma and pheochromocytoma" gene variant databases.
General information
Gene symbol VHL
Gene name von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Chromosome 3
Chromosomal band p25.3
Imprinted Unknown
Genomic reference NG_008212.3
Transcript reference NM_000551.3
Exon/intron information NM_000551.3 exon/intron table
Associated with diseases ECYT-2, pheochromocytoma, RCC, Von Hippel-Lindau syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Lucie Evenepoel
Total number of public variants reported 148
Unique public DNA variants reported 102
Individuals with public variants 39
Hidden variants 8
Download all this gene's data Download all data
Notes This database is one of the "Paraganglioma and pheochromocytoma" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).
Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated October 26, 2019
Version VHL:191026

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_000551.3.
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 http://www.LOVD.nl/VHL
HGNC 12687
Entrez Gene 7428
PubMed articles VHL
OMIM - Gene 608537
OMIM - Diseases ECYT-2 (erythrocytosis, familial, type 2 (ECYT-2))
pheochromocytoma
RCC (carcinoma, renal cell, nonpapillary (RCC))
Von Hippel-Lindau syndrome
HGMD VHL
GeneCards VHL
GeneTests VHL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022600 3 von Hippel-Lindau tumor suppressor, transcript variant 1 NM_000551.3 NP_000542.1 148


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 © 2010-2019. 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.