Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P192R

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.P192R
c.575C>G
Surrounding Variants
2 papers
NM_000551.4
p.P192Q
c.575C>A
5 papers
NM_000551.4
p.N193insFs
c.578_579insA
10 papers
NM_000551.4
p.P192L
c.575C>T
2 papers
NM_000551.4
p.P192delFs
c.576delA
7 papers
NM_000551.4
p.P192T
c.574C>A
3 papers
NM_000551.4
p.P192fs
c.574_575fs
9 papers
NM_000551.4
p.P192A
c.574C>G
26 papers
NM_000551.4
p.P192S
c.574C>T
3 papers
NM_000551.4
p.P192fs
c.574_575fs
5 papers
NM_000551.4
p.N193fs
c.577_578fs
2 papers
NM_000551.4
p.N193H
c.577A>C
1 paper
NM_000551.4
p.N193fs
c.577_578fs
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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."