Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.F136V

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
17 papers
NM_000551.4
p.F136V
c.406T>G
Surrounding Variants
6 papers
NM_000551.4
p.F136I
c.406T>A
10 papers
NM_000551.4
p.F136L
c.406T>C
1 paper
NM_000551.4
p.F136insFs
c.406_407insA
2 papers
NM_000551.4
p.F136insFs
c.406_407ins4
14 papers
NM_000551.4
p.F136fs
c.406_407fs
2 papers
NM_000551.4
p.F136insFs
c.407_408ins4
1 paper
NM_000551.4
p.F136insFs
c.407_408ins8
12 papers
NM_000551.4
p.F136fs
c.406_407fs
11 papers
NM_000551.4
p.L135_F136insFs
c.405_406insT
1 paper
NM_000551.4
p.F136insFs
c.406_407ins5
4 papers
NM_000551.4
p.F136insFs
c.407_408dupTT
2 papers
NM_000551.4
p.F136_V137insFs
c.408_409ins4
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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."