Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R167delFs

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.R167delFs
c.500_501delGG
Surrounding Variants
1 paper
NM_000551.4
p.R167R
c.499C>A
1 paper
NM_000551.4
p.R167_S168ins0
c.500_502dupGGA
8 papers
NM_000551.4
p.R167fs
c.499_500fs
28 papers
NM_000551.4
p.R167G
c.499C>G
240 papers
NM_000551.4
p.R167W
c.499C>T
6 papers
NM_000551.4
p.R167delFs
c.501delG
2 papers
NM_000551.4
p.R167fs
c.499_500fs
3 papers
NM_000551.4
p.R167_S168Fs
c.499_504delinsTFs
1 paper
NM_000551.4
p.R167_L169delFs
c.500_506del7
2 papers
NM_000551.4
p.R167_E173del7
c.499_518del21
231 papers
NM_000551.4
p.R167Q
c.500G>A
11 papers
NM_000551.4
p.R167P
c.500G>C
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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."