Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Y156C

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
30 papers
NM_000551.4
p.Y156C
c.467A>G
Surrounding Variants
1 paper
NM_000551.4
p.Y156insFs
c.468dupT
2 papers
NM_000551.4
p.T157del1
c.469_470delACT
14 papers
NM_000551.4
p.Y156*
c.468T>A
2 papers
NM_000551.4
p.Y156N
c.466T>A
4 papers
NM_000551.4
p.Y156H
c.466T>C
14 papers
NM_000551.4
p.Y156*
c.468T>G
9 papers
NM_000551.4
p.Y156D
c.466T>G
4 papers
NM_000551.4
p.Y156insFs
c.467dupA
1 paper
NM_000551.4
p.Y156_T157insFs
c.468_469ins4
3 papers
NM_000551.4
p.Y156_T157insFs
c.468_469insC
1 paper
NM_000551.4
p.Y156fs
c.466_467fs
2 papers
NM_000551.4
p.T157delFs
c.469delA
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