Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.D28V

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.D28V
c.83A>T
Surrounding Variants
1 paper
NM_000551.4
p.D28A
c.83A>C
4 papers
NM_000551.4
p.D28G
c.83A>G
1 paper
NM_000551.4
p.D28E
c.84C>A
1 paper
NM_000551.4
p.D28E
c.84C>G
1 paper
NM_000551.4
p.D28N
c.82G>A
1 paper
NM_000551.4
p.D28H
c.82G>C
2 papers
NM_000551.4
p.D28Y
c.82G>T
1 paper
NM_000551.4
p.E27D
c.81A>C
2 papers
NM_000551.4
p.E27E
c.81A>G
2 papers
NM_000551.4
p.E27D
c.81A>T
1 paper
NM_000551.4
p.D28_S33del6
c.82_98del18
1 paper
NM_000551.4
p.G29S
c.85G>A
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