Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V194G

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
4 papers
NM_000551.4
p.V194G
c.581T>G
Surrounding Variants
1 paper
NM_000551.4
p.V194delFs
c.582delG
1 paper
NM_000551.4
p.V194_L198delFs
c.582_592del11
3 papers
NM_000551.4
p.V194M
c.580G>A
2 papers
NM_000551.4
p.V194L
c.580G>C
2 papers
NM_000551.4
p.V194fs
c.580_581fs
2 papers
NM_000551.4
p.V194L
c.580G>T
1 paper
NM_000551.4
p.V194_Q195Fs
c.580_583delinsAAFs
1 paper
NM_000551.4
p.Q195_L201del7
c.583_602del21
1 paper
NM_000551.4
p.Q195K
c.583C>A
1 paper
NM_000551.4
p.K196_D197insFs
c.587_590dup4
1 paper
NM_000551.4
p.Q195fs
c.583_584fs
31 papers
NM_000551.4
p.Q195*
c.583C>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."