Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.M211L

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
10 papers
NM_000551.4
p.M211L
c.631A>C
Surrounding Variants
1 paper
NM_000551.4
p.M211insFs
c.631_632insC
1 paper
NM_000551.4
p.M211fs
c.631_632fs
2 papers
NM_000551.4
p.M211_G212insA
c.631_635ins3
1 paper
NM_000551.4
p.M211V
c.631A>G
7 papers
NM_000551.4
p.M211L
c.631A>T
2 papers
NM_000551.4
p.M211fs
c.631_632fs
2 papers
NM_198156.3
p.M170K
c.509T>A
NM_000551.4
p.M211K
c.632T>A
1 paper
NM_000551.4
p.M211T
c.632T>C
1 paper
NM_000551.4
p.M211R
c.632T>G
1 paper
NM_000551.4
p.M211_G212delFs
c.633_634delGG
8 papers
NM_000551.4
p.R210Q
c.629G>A
2 papers
NM_000551.4
p.M211I
c.633G>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."