The VHL gene homepage

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, NM_198156.2
Associated with diseases ECYT-2, pheochromocytoma, RCC, Von Hippel-Lindau syndrome
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 3
Unique public DNA variants reported 1
Individuals with public variants 3
Hidden variants 8
Date created November 30, -0001
Date last updated September 23, 2016
Version VHL:160923

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015070 3 transcript variant 1 NM_000551.3 NP_000542.1 3
00015071 3 transcript variant 2 NM_198156.2 NP_937799.1 -