Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R113R

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.R113R
c.339A>C
Surrounding Variants
1 paper
NM_000551.4
p.R113R
c.339A>G
3 papers
NM_000551.4
p.R113R
c.339A>T
1 paper
NM_000551.4
p.G114delFs
c.340delG
22 papers
NM_000551.4
p.G114S
c.340G>A
4 papers
NM_000551.4
p.R113Q
c.338G>A
51 papers
NM_000551.4
p.G114R
c.340G>C
5 papers
NM_000551.4
p.R113P
c.338G>C
26 papers
NM_000551.4
p.G114C
c.340G>T
3 papers
NM_000551.4
p.R113L
c.338G>T
3 papers
NM_000551.4
p.R113delFs
c.339delA
1 paper
NM_000551.4
p.R113R
c.337C>A
1 paper
NM_000551.4
p.R113fs
c.337_338fs
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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."