Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.F119L

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
49 papers
NM_000551.4
p.F119L
c.357C>A
Surrounding Variants
51 papers
NM_000551.4
p.F119L
c.357C>G
1 paper
NM_000551.4
p.F119F
c.357C>T
2 papers
NM_000551.4
p.D121delFs
c.361_362delGA
1 paper
NM_000551.4
p.R120_D121delFs
c.359_362del4
1 paper
NM_000551.4
p.R120_D126del7
c.358_377del21
5 papers
NM_000551.4
p.R120fs
c.358_359fs
20 papers
NM_000551.4
p.R120G
c.358A>G
7 papers
NM_000551.4
p.R120*
c.358A>T
2 papers
NM_000551.4
p.R120delFs
c.359delG
1 paper
NM_000551.4
p.R120fs
c.358_359fs
1 paper
NM_000551.4
p.R120_A122delFs
c.360_364del5
2 papers
NM_000551.4
p.R120_G123delFs
c.359_368del10
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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."