Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S72_V87del0

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.S72_V87del0
c.215_259del45
Surrounding Variants
2 papers
NM_000551.4
p.S72T
c.214T>A
16 papers
NM_000551.4
p.S72P
c.214T>C
5 papers
NM_000551.4
p.S72A
c.214T>G
6 papers
NM_000551.4
p.S72insFs
c.215dupC
2 papers
NM_000551.4
p.S72_Q73insFs
c.216_217dupCC
6 papers
NM_000551.4
p.S72fs
c.214_215fs
4 papers
NM_000551.4
p.Q73delFs
c.217delC
4 papers
NM_000551.4
p.S72fs
c.214_215fs
3 papers
NM_000551.4
p.S72_Q73delFs
c.216_217delCC
1 paper
NM_000551.4
p.S72_Q73delFs
c.215_219del5
3 papers
NM_000551.4
p.S72Y
c.215C>A
1 paper
NM_000551.4
p.P71P
c.213C>A
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."