Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E186D

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.E186D
c.558A>C
Surrounding Variants
1 paper
NM_000551.4
p.E186D
c.558A>T
1 paper
NM_000551.4
p.E186A
c.557A>C
5 papers
NM_000551.4
p.E186G
c.557A>G
2 papers
NM_000551.4
p.D187N
c.559G>A
3 papers
NM_000551.4
p.D187fs
c.559_560fs
1 paper
NM_000551.4
p.D187_L188insC
c.559_563ins3
1 paper
NM_000551.4
p.D187insFs
c.559_560insT
3 papers
NM_000551.4
p.D187Y
c.559G>T
1 paper
NM_000551.4
p.D187_L188Fs
c.559_562delinsTTFs
1 paper
NM_000551.4
p.D187V
c.560A>T
1 paper
NM_000551.4
p.L188delFs
c.562_563delCT
16 papers
NM_000551.4
p.E186K
c.556G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."