Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q164R

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
24 papers
NM_000551.4
p.Q164R
c.491A>G
Surrounding Variants
9 papers
NM_000551.4
p.Q164P
c.491A>C
9 papers
NM_000551.4
p.Q164L
c.491A>T
5 papers
NM_000551.4
p.V165delFs
c.493delG
1 paper
NM_000551.4
p.Q164K
c.490C>A
4 papers
NM_000551.4
p.Q164fs
c.490_491fs
1 paper
NM_000551.4
p.Q164_V165insG
c.490_494ins3
20 papers
NM_000551.4
p.Q164*
c.490C>T
1 paper
NM_000551.4
p.Q164_V165delFs
c.491_494del4
1 paper
NM_000551.4
p.V165_S168delFs
c.493_503del11
18 papers
NM_000551.4
p.Q164H
c.492G>C
1 paper
NM_000551.4
p.V165ins1
c.493_494insTTG
15 papers
NM_000551.4
p.Q164H
c.492G>T
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