Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E42D

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
2 papers
NM_000551.4
p.E42D
c.126G>C
Surrounding Variants
1 paper
NM_000551.4
p.E42E
c.126G>A
2 papers
NM_000551.4
p.E42D
c.126G>T
2 papers
NM_000551.4
p.E42A
c.125A>C
2 papers
NM_000551.4
p.E42G
c.125A>G
4 papers
NM_000551.4
p.E42V
c.125A>T
1 paper
NM_000551.4
p.E42_S43del1
c.126_128delGTC
1 paper
NM_000551.4
p.S43T
c.127T>A
3 papers
NM_000551.4
p.S43P
c.127T>C
3 papers
NM_000551.4
p.S43A
c.127T>G
1 paper
NM_000551.4
p.S43Y
c.128C>A
2 papers
NM_000551.4
p.S43C
c.128C>G
2 papers
NM_000551.4
p.S43F
c.128C>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."