Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V87G

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
4 papers
NM_000551.4
p.V87G
c.260T>G
Surrounding Variants
7 papers
NM_000551.4
p.V87E
c.260T>A
7 papers
NM_000551.4
p.V87A
c.260T>C
1 paper
NM_000551.4
p.W88ins1
c.262_263insAAT
1 paper
NM_000551.4
p.V87_W88insFs
c.261_262ins8
2 papers
NM_000551.4
p.V87_W88insFs
c.261_262insT
1 paper
NM_000551.4
p.W88insFs
c.262_263ins5
1 paper
NM_000551.4
p.V87V
c.261A>C
1 paper
NM_000551.4
p.V87V
c.261A>G
1 paper
NM_000551.4
p.V87V
c.261A>T
5 papers
NM_000551.4
p.V87I
c.259G>A
5 papers
NM_000551.4
p.V87L
c.259G>C
2 papers
NM_000551.4
p.V87insFs
c.259_260insA
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