Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.I151M

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
11 papers
NM_000551.4
p.I151M
c.453C>G
Surrounding Variants
1 paper
NM_000551.4
p.T152insFs
c.454_455insA
2 papers
NM_000551.4
p.T152delFs
c.454delA
1 paper
NM_000551.4
p.T152insFs
c.455dupC
3 papers
NM_000551.4
p.T152fs
c.454_455fs
9 papers
NM_000551.4
p.T152P
c.454A>C
1 paper
NM_000551.4
p.T152A
c.454A>G
1 paper
NM_000551.4
p.T152S
c.454A>T
3 papers
NM_000551.4
p.T152fs
c.454_455fs
14 papers
NM_000551.4
p.I151N
c.452T>A
33 papers
NM_000551.4
p.I151T
c.452T>C
24 papers
NM_000551.4
p.I151S
c.452T>G
1 paper
NM_000551.4
p.I151insFs
c.452_453insTC
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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."