Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.H191Q

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.H191Q
c.573C>G
Surrounding Variants
2 papers
NM_000551.4
p.H191Q
c.573C>A
2 papers
NM_000551.4
p.P192_L198del7
c.574_593del21
2 papers
NM_000551.4
p.P192_R200del9
c.574_599del27
3 papers
NM_000551.4
p.H191P
c.572A>C
3 papers
NM_198156.3
p.H150R
c.449A>G
NM_000551.4
p.H191R
c.572A>G
3 papers
NM_000551.4
p.H191L
c.572A>T
4 papers
NM_000551.4
p.P192delFs
c.575delC
1 paper
NM_000551.4
p.H191_P192delFs
c.573_574delCC
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
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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."