Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P40R

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.P40R
c.119C>G
Surrounding Variants
2 papers
NM_000551.4
p.P40Q
c.119C>A
7 papers
NM_000551.4
p.P40L
c.119C>T
1 paper
NM_000551.4
p.P40delFs
c.120delG
1 paper
NM_000551.4
p.P40_E42delFs
c.120_126del7
3 papers
NM_000551.4
p.P40T
c.118C>A
1 paper
NM_000551.4
p.P40fs
c.118_119fs
6 papers
NM_000551.4
p.P40S
c.118C>T
1 paper
NM_000551.4
p.P40P
c.120G>T
1 paper
NM_000551.4
p.G39G
c.117C>A
2 papers
NM_000551.4
p.G39G
c.117C>G
1 paper
NM_000551.4
p.G39G
c.117C>T
3 papers
NM_000551.4
p.E41K
c.121G>A
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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."