Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.G34D

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.G34D
c.101G>A
Surrounding Variants
1 paper
NM_000551.4
p.G34A
c.101G>C
3 papers
NM_000551.4
p.G34V
c.101G>T
1 paper
NM_000551.4
p.G34G
c.102C>T
1 paper
NM_000551.4
p.A35_E46del12
c.103_137del36
1 paper
NM_000551.4
p.G34S
c.100G>A
2 papers
NM_000551.4
p.G34R
c.100G>C
2 papers
NM_000551.4
p.G34insFs
c.100_101insC
2 papers
NM_000551.4
p.G34C
c.100G>T
1 paper
NM_000551.4
p.A35P
c.103G>C
2 papers
NM_000551.4
p.A35S
c.103G>T
6 papers
NM_000551.4
p.S33*
c.98C>A
2 papers
NM_000551.4
p.A35D
c.104C>A
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