Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R82R

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.R82R
c.246C>T
Surrounding Variants
1 paper
NM_000551.4
p.R82R
c.246C>A
1 paper
NM_000551.4
p.R82R
c.246C>G
2 papers
NM_000551.4
p.V83delFs
c.247delG
2 papers
NM_000551.4
p.V83delFs
c.247_248delGT
2 papers
NM_000551.4
p.V83_L85delFs
c.248_255del8
7 papers
NM_000551.4
p.V83I
c.247G>A
3 papers
NM_000551.4
p.R82H
c.245G>A
37 papers
NM_000551.4
p.R82P
c.245G>C
4 papers
NM_000551.4
p.V83L
c.247G>C
5 papers
NM_000551.4
p.V83fs
c.247_248fs
1 paper
NM_000551.4
p.R82insFs
c.245_246insT
2 papers
NM_000551.4
p.V83insFs
c.248_249insAT
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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."