Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.W117R

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
46 papers
NM_000551.4
p.W117R
c.349T>C
Surrounding Variants
47 papers
NM_000551.4
p.W117R
c.349T>A
14 papers
NM_000551.4
p.W117G
c.349T>G
3 papers
NM_000551.4
p.W117insFs
c.350_351insG
8 papers
NM_000551.4
p.W117fs
c.349_350fs
6 papers
NM_000551.4
p.W117delFs
c.350delG
6 papers
NM_000551.4
p.W117fs
c.349_350fs
29 papers
NM_000551.4
p.W117*
c.350G>A
13 papers
NM_000551.4
p.W117S
c.350G>C
1 paper
NM_000551.4
p.W117insFs
c.350_351insT
11 papers
NM_000551.4
p.W117L
c.350G>T
1 paper
NM_000551.4
p.L116L
c.348T>C
1 paper
NM_000551.4
p.W117_R120del4
c.349_359del12
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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."