Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R161Q

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
121 papers
NM_000551.4
p.R161Q
c.482G>A
Surrounding Variants
35 papers
NM_000551.4
p.R161P
c.482G>C
1 paper
NM_000551.4
p.R161insFs
c.483dupA
1 paper
NM_000551.4
p.R161delFs
c.483delA
2 papers
NM_000551.4
p.C162_V166del5
c.484_497del15
3 papers
NM_000551.4
p.R161R
c.481C>A
2 papers
NM_000551.4
p.R161insFs
c.481_482insAG
1 paper
NM_000551.4
p.R161insFs
c.481_482insG
1 paper
NM_000551.4
p.R161_R167insFs
c.482_500dup19
3 papers
NM_000551.4
p.R161fs
c.481_482fs
26 papers
NM_000551.4
p.R161G
c.481C>G
NM_198156.3
p.R120G
c.358C>G
128 papers
NM_000551.4
p.R161*
c.481C>T
1 paper
NM_000551.4
p.R161fs
c.481_482fs
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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."