Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.H110R

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
3 papers
NM_000551.4
p.H110R
c.329A>G
Surrounding Variants
15 papers
NM_000551.4
p.H110P
c.329A>C
4 papers
NM_000551.4
p.H110L
c.329A>T
2 papers
NM_000551.4
p.H110delFs
c.330delC
2 papers
NM_000551.4
p.H110_S111delFs
c.330_333del4
2 papers
NM_000551.4
p.H110_R113del0
c.330_338del9
6 papers
NM_000551.4
p.H110Q
c.330C>A
5 papers
NM_000551.4
p.H110N
c.328C>A
1 paper
NM_000551.4
p.H110insFs
c.329dupA
1 paper
NM_000551.4
p.H110_S111insFs
c.330_331ins7
3 papers
NM_000551.4
p.H110fs
c.328_329fs
1 paper
NM_000551.4
p.H110_S111insFs
c.330_331ins4
6 papers
NM_000551.4
p.H110Q
c.330C>G
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