Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.W88R

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
50 papers
NM_000551.4
p.W88R
c.262T>C
Surrounding Variants
48 papers
NM_000551.4
p.W88R
c.262T>A
12 papers
NM_000551.4
p.W88G
c.262T>G
3 papers
NM_000551.4
p.W88insFs
c.264dupG
1 paper
NM_000551.4
p.W88insFs
c.263_264ins4
4 papers
NM_000551.4
p.W88fs
c.262_263fs
3 papers
NM_000551.4
p.W88delFs
c.263delG
1 paper
NM_000551.4
p.W88fs
c.262_263fs
2 papers
NM_000551.4
p.W88_N90delFs
c.263_270del8
1 paper
NM_000551.4
p.V87_W88insFs
c.261_262ins8
2 papers
NM_000551.4
p.V87_W88insFs
c.261_262insT
1 paper
NM_000551.4
p.W88insFs
c.262_263ins5
1 paper
NM_000551.4
p.V87V
c.261A>C
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."