Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V62delFs

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.V62delFs
c.185_186delTG
Surrounding Variants
1 paper
NM_000551.4
p.P61P
c.183C>A
1 paper
NM_000551.4
p.V62insFs
c.184_185ins20
11 papers
NM_000551.4
p.P61P
c.183C>G
4 papers
NM_000551.4
p.P61P
c.183C>T
2 papers
NM_000551.4
p.V62delFs
c.184delG
1 paper
NM_000551.4
p.V62del1
c.184_185delGTG
3 papers
NM_000551.4
p.P61H
c.182C>A
3 papers
NM_000551.4
p.P61R
c.182C>G
2 papers
NM_000551.4
p.P61L
c.182C>T
1 paper
NM_000551.4
p.V62_L63delFs
c.184_187del4
1 paper
NM_000551.4
p.P61_L63Fs
c.182_187delinsTTTTFs
1 paper
NM_000551.4
p.P61_S65delFs
c.183_195del13
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