Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.F119S

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
23 papers
NM_000551.4
p.F119S
c.356T>C
Surrounding Variants
1 paper
NM_000551.4
p.F119Y
c.356T>A
1 paper
NM_000551.4
p.F119C
c.356T>G
3 papers
NM_000551.4
p.F119delFs
c.357delC
2 papers
NM_000551.4
p.F119_D121delFs
c.357_361del5
3 papers
NM_000551.4
p.R120_G123delFs
c.360_367del8
2 papers
NM_000551.4
p.R120_H125delFs
c.359_374del16
49 papers
NM_000551.4
p.F119L
c.357C>A
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
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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."