Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E21A

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
4 papers
NM_000551.4
p.E21A
c.62A>C
Surrounding Variants
1 paper
NM_000551.4
p.E21G
c.62A>G
1 paper
NM_000551.4
p.E21V
c.62A>T
1 paper
NM_000551.4
p.E21D
c.63A>C
1 paper
NM_000551.4
p.E21D
c.63A>T
2 papers
NM_000551.4
p.E21K
c.61G>A
1 paper
NM_000551.4
p.E21Q
c.61G>C
1 paper
NM_000551.4
p.E21delFs
c.62delA
1 paper
NM_000551.4
p.V20V
c.60C>A
1 paper
NM_000551.4
p.V20V
c.60C>T
1 paper
NM_000551.4
p.E22K
c.64G>A
1 paper
NM_000551.4
p.E22Q
c.64G>C
2 papers
NM_000551.4
p.E22G
c.65A>G
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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."