Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E189insFs

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
1 paper
NM_000551.4
p.E189insFs
c.566_567insG
Surrounding Variants
1 paper
NM_000551.4
p.E189V
c.566A>T
1 paper
NM_000551.4
p.D190insFs
c.568_569insG
2 papers
NM_000551.4
p.E189D
c.567A>C
2 papers
NM_000551.4
p.E189D
c.567A>T
7 papers
NM_000551.4
p.E189K
c.565G>A
2 papers
NM_000551.4
p.E189Q
c.565G>C
2 papers
NM_000551.4
p.E189insFs
c.565_566insA
1 paper
NM_000551.4
p.H191_L198ins2
c.572_592dup21
6 papers
NM_000551.4
p.E189fs
c.565_566fs
1 paper
NM_000551.4
p.E189_D190insCT
c.565_569ins6
8 papers
NM_000551.4
p.E189*
c.565G>T
3 papers
NM_000551.4
p.E189delFs
c.567delA
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