Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q209insFs

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.Q209insFs
c.627dupA
Surrounding Variants
1 paper
NM_000551.4
p.Q209K
c.625C>A
3 papers
NM_000551.4
p.Q209fs
c.625_626fs
2 papers
NM_000551.4
p.Q209E
c.625C>G
3 papers
NM_000551.4
p.Q209*
c.625C>T
1 paper
NM_000551.4
p.Q209fs
c.625_626fs
1 paper
NM_000551.4
p.Q209P
c.626A>C
3 papers
NM_000551.4
p.Q209R
c.626A>G
2 papers
NM_000551.4
p.Q209L
c.626A>T
2 papers
NM_000551.4
p.Q209insFs
c.625dupC
1 paper
NM_000551.4
p.Q209_R210del2
c.625_629del6
1 paper
NM_000551.4
p.Q209_*214del6
c.625_641del18
2 papers
NM_000551.4
p.Q209H
c.627A>C
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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."