Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Y23*

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
1 paper
NM_000551.4
p.Y23*
c.69C>A
Surrounding Variants
1 paper
NM_000551.4
p.Y23*
c.69C>G
1 paper
NM_000551.4
p.G24_E27del4
c.70_80del12
2 papers
NM_000551.4
p.Y23S
c.68A>C
3 papers
NM_000551.4
p.Y23C
c.68A>G
2 papers
NM_000551.4
p.Y23F
c.68A>T
2 papers
NM_000551.4
p.G24_P25delFs
c.70_73del4
3 papers
NM_000551.4
p.G24S
c.70G>A
1 paper
NM_000551.4
p.G24R
c.70G>C
1 paper
NM_000551.4
p.G24C
c.70G>T
1 paper
NM_000551.4
p.G24D
c.71G>A
2 papers
NM_000551.4
p.G24A
c.71G>C
1 paper
NM_000551.4
p.G24V
c.71G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."