Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S111R

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
42 papers
NM_000551.4
p.S111R
c.333C>A
Surrounding Variants
1 paper
NM_000551.4
p.S111_Y112insFs
c.333_334insA
1 paper
NM_000551.4
p.S111_Y112insFs
c.333_334insT
43 papers
NM_000551.4
p.S111R
c.333C>G
4 papers
NM_000551.4
p.S111S
c.333C>T
60 papers
NM_000551.4
p.S111N
c.332G>A
3 papers
NM_000551.4
p.S111T
c.332G>C
12 papers
NM_000551.4
p.S111I
c.332G>T
1 paper
NM_000551.4
p.S111delins
c.332_333delinsAT
4 papers
NM_000551.4
p.S111delFs
c.333delC
39 papers
NM_000551.4
p.Y112N
c.334T>A
101 papers
NM_000551.4
p.Y112H
c.334T>C
14 papers
NM_000551.4
p.Y112D
c.334T>G
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