Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E17G

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.E17G
c.50A>G
Surrounding Variants
3 papers
NM_000551.4
p.E17insFs
c.51dupG
5 papers
NM_000551.4
p.E17V
c.50A>T
4 papers
NM_000551.4
p.E17K
c.49G>A
4 papers
NM_000551.4
p.E17Q
c.49G>C
1 paper
NM_000551.4
p.E17D
c.51G>C
2 papers
NM_000551.4
p.E17*
c.49G>T
1 paper
NM_000551.4
p.E17D
c.51G>T
3 papers
NM_000551.4
p.A18T
c.52G>A
2 papers
NM_000551.4
p.A18P
c.52G>C
1 paper
NM_000551.4
p.E16D
c.48G>C
2 papers
NM_000551.4
p.A18S
c.52G>T
1 paper
NM_000551.4
p.E16D
c.48G>T
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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."