Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V87L

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
5 papers
NM_000551.4
p.V87L
c.259G>C
Surrounding Variants
5 papers
NM_000551.4
p.V87I
c.259G>A
2 papers
NM_000551.4
p.V87insFs
c.259_260insA
4 papers
NM_000551.4
p.V87fs
c.259_260fs
2 papers
NM_000551.4
p.V87insFs
c.260dupT
2 papers
NM_000551.4
p.V87_W88insFs
c.261_262dupAT
1 paper
NM_000551.4
p.V87ins1
c.260_261insGTT
6 papers
NM_000551.4
p.V87L
c.259G>T
1 paper
NM_000551.4
p.V87delFs
c.260delT
1 paper
NM_000551.4
p.V87delins
c.259_260delinsTA
1 paper
NM_000551.4
p.V87_W88delFs
c.261_262delAT
4 papers
NM_000551.4
p.V87fs
c.259_260fs
1 paper
NM_000551.4
p.V87_W88del1
c.260_262delTAT
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