Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R82H

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
3 papers
NM_000551.4
p.R82H
c.245G>A
Surrounding Variants
37 papers
NM_000551.4
p.R82P
c.245G>C
1 paper
NM_000551.4
p.R82insFs
c.245_246insT
24 papers
NM_000551.4
p.R82L
c.245G>T
1 paper
NM_000551.4
p.R82delins
c.245_246delinsCT
1 paper
NM_000551.4
p.V83_V84del1
c.249_251delCGT
1 paper
NM_000551.4
p.R82_L85del0
c.246_254del9
3 papers
NM_000551.4
p.R82S
c.244C>A
1 paper
NM_000551.4
p.R82R
c.246C>A
13 papers
NM_000551.4
p.R82G
c.244C>G
1 paper
NM_000551.4
p.R82R
c.246C>G
7 papers
NM_000551.4
p.R82C
c.244C>T
1 paper
NM_000551.4
p.R82R
c.246C>T
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