Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R205H

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
8 papers
NM_000551.4
p.R205H
c.614G>A
Surrounding Variants
2 papers
NM_000551.4
p.R205P
c.614G>C
1 paper
NM_000551.4
p.R205L
c.614G>T
1 paper
NM_000551.4
p.R205delFs
c.615delC
1 paper
NM_000551.4
p.R205_I206delFs
c.615_616delCA
1 paper
NM_000551.4
p.R205S
c.613C>A
1 paper
NM_000551.4
p.I206insFs
c.616dupA
1 paper
NM_000551.4
p.R205_I206insFs
c.615_616insAA
2 papers
NM_000551.4
p.R205fs
c.613_614fs
2 papers
NM_000551.4
p.R205G
c.613C>G
10 papers
NM_000551.4
p.R205C
c.613C>T
1 paper
NM_000551.4
p.I206_H208del3
c.616_623del9
1 paper
NM_000551.4
p.I206fs
c.616_617fs
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