Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.N193S

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
3 papers
NM_000551.4
p.N193S
c.578A>G
Surrounding Variants
5 papers
NM_000551.4
p.N193fs
c.577_578fs
2 papers
NM_000551.4
p.N193H
c.577A>C
1 paper
NM_000551.4
p.N193fs
c.577_578fs
1 paper
NM_000551.4
p.N193K
c.579T>A
1 paper
NM_000551.4
p.N193K
c.579T>G
1 paper
NM_000551.4
p.N193_V194insFs
c.579_580insA
1 paper
NM_000551.4
p.V194delFs
c.580delG
1 paper
NM_000551.4
p.V194_D197del4
c.580_590del12
1 paper
NM_000551.4
p.V194_L201del8
c.580_602del24
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
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."