VHL gene homepage

General information
Gene symbol VHL
Gene name von Hippel-Lindau tumor suppressor
Chromosome 3
Chromosomal band p25.3
Imprinted Unknown
Genomic reference LRG_322
Transcript reference NM_000551.3, NM_198156.2
Associated with diseases ECYT2, Pheo, VHL
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 71
Unique public DNA variants reported 36
Individuals with public variants 101
Hidden variants 0
Date created May 20, 2020
Date last updated September 10, 2020
Version VHL:200910

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 12687
Entrez Gene 7428
PubMed articles VHL
OMIM - Gene 608537
OMIM - Diseases ECYT2 (Erythrocytosis, familial, 2)
Pheo (Pheochromocytoma, susceptibility to)
VHL (von Hippel-Lindau syndrome)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000234 3 E3 ubiquitin protein ligase, transcript variant 1 NM_000551.3 NP_000542.1 71
00000235 3 E3 ubiquitin protein ligase, transcript variant 2 NM_198156.2 NP_937799.1 71

Copyright & disclaimer
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