Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.G39R

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.G39R
c.115G>C
Surrounding Variants
4 papers
NM_000551.4
p.G39S
c.115G>A
2 papers
NM_000551.4
p.G39C
c.115G>T
2 papers
NM_000551.4
p.G39fs
c.115_116fs
1 paper
NM_000551.4
p.G39_P40delFs
c.117_120del4
1 paper
NM_000551.4
p.G39insFs
c.115dupG
1 paper
NM_000551.4
p.S38S
c.114C>G
2 papers
NM_000551.4
p.S38S
c.114C>T
4 papers
NM_000551.4
p.G39D
c.116G>A
3 papers
NM_000551.4
p.G39A
c.116G>C
2 papers
NM_000551.4
p.G39V
c.116G>T
1 paper
NM_000551.4
p.P40delFs
c.119delC
2 papers
NM_000551.4
p.S38Y
c.113C>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."