Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q164H

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.Q164H
c.492G>C
Surrounding Variants
1 paper
NM_000551.4
p.V165ins1
c.493_494insTTG
15 papers
NM_000551.4
p.Q164H
c.492G>T
2 papers
NM_000551.4
p.V165_L169del5
c.493_506del15
9 papers
NM_000551.4
p.Q164P
c.491A>C
24 papers
NM_000551.4
p.Q164R
c.491A>G
9 papers
NM_000551.4
p.Q164L
c.491A>T
5 papers
NM_000551.4
p.V165delFs
c.493delG
4 papers
NM_000551.4
p.V165I
c.493G>A
3 papers
NM_000551.4
p.V165L
c.493G>C
2 papers
NM_000551.4
p.V165fs
c.493_494fs
2 papers
NM_000551.4
p.V165_V166insA
c.493_497ins3
1 paper
NM_000551.4
p.V165insFs
c.493_494insT
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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."