Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E52*

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
Selected Variant
18 papers
NM_000551.4
p.E52*
c.154G>T
Surrounding Variants
21 papers
NM_000551.4
p.E52K
c.154G>A
2 papers
NM_000551.4
p.E52Q
c.154G>C
1 paper
NM_000551.4
p.E52fs
c.154_155fs
1 paper
NM_000551.4
p.E52A
c.155A>C
2 papers
NM_000551.4
p.E52G
c.155A>G
2 papers
NM_000551.4
p.E52V
c.155A>T
1 paper
NM_000551.4
p.E53_E55delFs
c.157_163del7
1 paper
NM_000551.4
p.E51E
c.153G>A
2 papers
NM_000551.4
p.E51D
c.153G>C
2 papers
NM_000551.4
p.E51D
c.153G>T
3 papers
NM_000551.4
p.E51G
c.152A>G
2 papers
NM_000551.4
p.E51V
c.152A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."