Varaico: Literature-Extracted Genetic Variants

Gene:VHL

VHL

2,228 papers

RefSeq Summary

This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that...

Pfam Domains

VHLaa 63–116UCSCVHL beta domain
VHLaa 63–144UCSCVHL beta domain
VHL_Caa 156–204UCSCVHL box domain

Gene Aliases

HGNC Name

von Hippel-Lindau tumor suppressor

HGNC Alias Symbol

VHL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 3609 variants
253 papers
NM_000551.4
p.R200W
c.598C>T
240 papers
NM_000551.4
p.R167W
c.499C>T
231 papers
NM_000551.4
p.R167Q
c.500G>A
187 papers
NM_000551.4
p.Y98H
c.292T>C
170 papers
NM_000551.4
p.L188V
c.562C>G
132 papers
NM_000551.4
p.N78S
c.233A>G
128 papers
NM_000551.4
p.R161*
c.481C>T
121 papers
NM_000551.4
p.R161Q
c.482G>A
101 papers
NM_000551.4
p.Y112H
c.334T>C
92 papers
NM_000551.4
p.P81S
c.241C>T
89 papers
NM_000551.4
p.S65W
c.194C>G
89 papers
NM_000551.4
p.S65L
c.194C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."