Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E47A

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
2 papers
NM_000551.4
p.E47A
c.140A>C
Surrounding Variants
2 papers
NM_000551.4
p.E47G
c.140A>G
3 papers
NM_000551.4
p.E47V
c.140A>T
2 papers
NM_000551.4
p.E47D
c.141A>C
1 paper
NM_000551.4
p.E47E
c.141A>G
2 papers
NM_000551.4
p.E47D
c.141A>T
1 paper
NM_000551.4
p.L48delFs
c.142_143delCT
4 papers
NM_000551.4
p.E47K
c.139G>A
2 papers
NM_000551.4
p.E47Q
c.139G>C
1 paper
NM_000551.4
p.E47*
c.139G>T
1 paper
NM_000551.4
p.E47delins
c.139_141delinsAAG
1 paper
NM_000551.4
p.E47delins
c.139_141delinsAAT
2 papers
NM_000551.4
p.L48M
c.142C>A
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