Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R3P

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.R3P
c.8G>C
Surrounding Variants
1 paper
NM_000551.4
p.R3ins3
c.8_9ins9
2 papers
NM_000551.4
p.A5_A11insFs
c.13_31dup19
1 paper
NM_000551.4
p.R3L
c.8G>T
1 paper
NM_000551.4
p.R3G
c.7C>G
3 papers
NM_000551.4
p.R3W
c.7C>T
1 paper
NM_000551.4
p.R3R
c.9G>T
1 paper
NM_000551.4
p.R4R
c.10A>C
1 paper
NM_000551.4
p.R4Fs
c.10delinsCGFs
1 paper
NM_000551.4
p.R4W
c.10A>T
1 paper
NM_000551.4
p.R4delins
c.10_11delinsTT
1 paper
NM_000551.4
p.R3ins1
c.7_8insATC
4 papers
NM_000551.4
p.P2P
c.6C>G
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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."