VHL Gene

Alternative Names

  • VHL

Associated Diseases

Von Hippel-Lindau Syndrome
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OMIM Number

608537

NCBI Gene ID

7428

Uniprot ID

P40337

Length

12,663 bases

No. of Exons

4

No. of isoforms

3

Protein Name

von Hippel-Lindau Disease Tumor Suppressor

Molecular Mass

24153 Da

Amino Acid Count

213

Genomic Location

ch3:10,141,777-10,153,666

Gene Map Locus
3p26-p25

Description

The VHL gene encodes a protein with ubiquitin ligase activity. It is thus involved in the ubiquitination and subsequent proteasomal degradation of target proteins. The VHL protein has been found to be involved in the negative regulation of gene expression, cell proliferation and apoptotic process. Mutations in the gene have been implicated in Von Hippel-Lindau syndrome.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000551.3:c.194C>GLebanonchr3:10142041PathogenicPathogenicVon Hippel-Lindau SyndromeNG_008212.3:g.5407C>G; NM_000551.3:c.194C>G; NP_000542.1:p.Ser65Trp503082643597
NM_000551.3:c.227T>GLebanonNC_000003.12:g.10142074T>GUncertain SignificancePathogenicVon Hippel-Lindau SyndromeNG_008212.3:g.5440T>G; NM_000551.3:c.227T>G; NP_000542.1:p.Phe76Cys730882033496051
NM_000551.3:c.340+1G>TKuwaitchr3:10142188PathogenicPathogenicVon Hippel-Lindau SyndromeNG_008212.3:g.5554G>T; NM_000551.3:c.340+1G>T730882032223190
NM_000551.3:c.351G>TKuwaitchr3:10146524PathogenicPathogenicVon Hippel-Lindau SyndromeNG_008212.3:g.9890G>T; NM_000551.3:c.351G>T; NP_000542.1:p.Trp117Cys727504215167827
NM_000551.4:c.631A>CLebanonchr3:10149954Likely BenignUncertain SignificanceBreast CancerNG_008212.3:g.13320A>C; NM_000551.4:c.631A>C; NP_000542.1:p.Met211Leu200019083182990
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