Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E31K

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.E31K
c.91G>A
Surrounding Variants
1 paper
NM_000551.4
p.E31Q
c.91G>C
1 paper
NM_000551.4
p.E31fs
c.91_92fs
3 papers
NM_000551.4
p.E31G
c.92A>G
2 papers
NM_000551.4
p.E31V
c.92A>T
7 papers
NM_000551.4
p.E31E
c.93G>A
2 papers
NM_000551.4
p.G30E
c.89G>A
10 papers
NM_000551.4
p.E31D
c.93G>C
3 papers
NM_000551.4
p.E31D
c.93G>T
1 paper
NM_000551.4
p.G30V
c.89G>T
1 paper
NM_000551.4
p.E32delFs
c.95_96delAG
2 papers
NM_000551.4
p.E32K
c.94G>A
1 paper
NM_000551.4
p.G30R
c.88G>A
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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."