Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L116fs

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
4 papers
NM_000551.4
p.L116fs
c.346_347fs
Surrounding Variants
2 papers
NM_000551.4
p.L116I
c.346C>A
5 papers
NM_000551.4
p.L116fs
c.346_347fs
6 papers
NM_000551.4
p.L116insFs
c.346_347insT
1 paper
NM_000551.4
p.L116insFs
c.347_348ins4
1 paper
NM_000551.4
p.L116_W117insFs
c.348_349dupTT
13 papers
NM_000551.4
p.L116V
c.346C>G
1 paper
NM_000551.4
p.L116F
c.346C>T
11 papers
NM_000551.4
p.W117delFs
c.349delT
2 papers
NM_000551.4
p.L116_W117delFs
c.348_349delTT
42 papers
NM_000551.4
p.H115Q
c.345C>A
41 papers
NM_000551.4
p.H115Q
c.345C>G
2 papers
NM_000551.4
p.L116delFs
c.346_347delCT
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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."