Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Y112N

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
39 papers
NM_000551.4
p.Y112N
c.334T>A
Surrounding Variants
101 papers
NM_000551.4
p.Y112H
c.334T>C
14 papers
NM_000551.4
p.Y112D
c.334T>G
1 paper
NM_000551.4
p.Y112insFs
c.335dupA
2 papers
NM_000551.4
p.Y112fs
c.334_335fs
3 papers
NM_000551.4
p.Y112fs
c.334_335fs
2 papers
NM_000551.4
p.Y112_R113delFs
c.336_339del4
2 papers
NM_000551.4
p.Y112S
c.335A>C
12 papers
NM_000551.4
p.Y112C
c.335A>G
2 papers
NM_000551.4
p.Y112F
c.335A>T
1 paper
NM_000551.4
p.R113delFs
c.337delC
1 paper
NM_000551.4
p.Y112_R113delFs
c.336_337delCC
3 papers
NM_000551.4
p.Y112_G114delFs
c.336_340del5
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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."