Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R82_V87delFs

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
2 papers
NM_000551.4
p.R82_V87delFs
c.246_259del14
Surrounding Variants
1 paper
NM_000551.4
p.P81P
c.243G>A
1 paper
NM_000551.4
p.P81P
c.243G>C
1 paper
NM_000551.4
p.P81P
c.243G>T
1 paper
NM_000551.4
p.R82delFs
c.244delC
6 papers
NM_000551.4
p.P81Q
c.242C>A
3 papers
NM_000551.4
p.R82S
c.244C>A
2 papers
NM_000551.4
p.P81insFs
c.242_243insA
2 papers
NM_000551.4
p.P81insFs
c.242_243insG
13 papers
NM_000551.4
p.R82G
c.244C>G
4 papers
NM_000551.4
p.P81R
c.242C>G
27 papers
NM_000551.4
p.P81L
c.242C>T
7 papers
NM_000551.4
p.R82C
c.244C>T
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