Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S111delFs

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
4 papers
NM_000551.4
p.S111delFs
c.333delC
Surrounding Variants
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
3 papers
NM_000551.4
p.S111fs
c.331_332fs
41 papers
NM_000551.4
p.S111R
c.331A>C
18 papers
NM_000551.4
p.S111G
c.331A>G
22 papers
NM_000551.4
p.S111C
c.331A>T
1 paper
NM_000551.4
p.S111delFs
c.332delG
2 papers
NM_000551.4
p.S111delins
c.331_333delinsCCT
3 papers
NM_000551.4
p.S111fs
c.331_332fs
42 papers
NM_000551.4
p.S111R
c.333C>A
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