Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.G44G

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
1 paper
NM_000551.4
p.G44G
c.132C>T
Surrounding Variants
1 paper
NM_000551.4
p.G44G
c.132C>A
3 papers
NM_000551.4
p.G44G
c.132C>G
2 papers
NM_000551.4
p.P45T
c.133C>A
1 paper
NM_000551.4
p.P45A
c.133C>G
3 papers
NM_000551.4
p.P45S
c.133C>T
3 papers
NM_000551.4
p.G44D
c.131G>A
2 papers
NM_000551.4
p.G44A
c.131G>C
2 papers
NM_000551.4
p.G44V
c.131G>T
1 paper
NM_000551.4
p.P45delFs
c.133delC
2 papers
NM_000551.4
p.P45Q
c.134C>A
4 papers
NM_000551.4
p.P45R
c.134C>G
9 papers
NM_000551.4
p.P45L
c.134C>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."