Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.G49V

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.G49V
c.146G>T
Surrounding Variants
5 papers
NM_000551.4
p.G49D
c.146G>A
1 paper
NM_000551.4
p.G49A
c.146G>C
1 paper
NM_000551.4
p.G49G
c.147C>A
1 paper
NM_000551.4
p.G49G
c.147C>G
1 paper
NM_000551.4
p.G49G
c.147C>T
2 papers
NM_000551.4
p.G49S
c.145G>A
2 papers
NM_000551.4
p.G49R
c.145G>C
4 papers
NM_000551.4
p.G49C
c.145G>T
8 papers
NM_000551.4
p.L48L
c.144G>A
6 papers
NM_000551.4
p.A50T
c.148G>A
5 papers
NM_000551.4
p.A50P
c.148G>C
1 paper
NM_000551.4
p.L48L
c.144G>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."