Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E10D

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
1 paper
NM_000551.4
p.E10D
c.30G>C
Surrounding Variants
1 paper
NM_000551.4
p.E10E
c.30G>A
1 paper
NM_000551.4
p.E10D
c.30G>T
3 papers
NM_000551.4
p.E10G
c.29A>G
1 paper
NM_000551.4
p.E10V
c.29A>T
3 papers
NM_000551.4
p.A11T
c.31G>A
2 papers
NM_000551.4
p.A11P
c.31G>C
1 paper
NM_000551.4
p.A11fs
c.31_32fs
1 paper
NM_000551.4
p.A11D
c.32C>A
1 paper
NM_000551.4
p.A11G
c.32C>G
1 paper
NM_000551.4
p.A11V
c.32C>T
4 papers
NM_000551.4
p.E10K
c.28G>A
3 papers
NM_000551.4
p.E10Q
c.28G>C
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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."