Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L188R

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
11 papers
NM_000551.4
p.L188R
c.563T>G
Surrounding Variants
20 papers
NM_000551.4
p.L188Q
c.563T>A
25 papers
NM_000551.4
p.L188P
c.563T>C
1 paper
NM_000551.4
p.E189_Q195ins2
c.565_585dup21
4 papers
NM_000551.4
p.E189delFs
c.565delG
1 paper
NM_000551.4
p.L188_E189delFs
c.564_565delGG
1 paper
NM_000551.4
p.E189_D190delFs
c.565_568del4
3 papers
NM_000551.4
p.L188fs
c.562_563fs
3 papers
NM_000551.4
p.L188insFs
c.563dupT
170 papers
NM_000551.4
p.L188V
c.562C>G
2 papers
NM_000551.4
p.L188fs
c.562_563fs
1 paper
NM_000551.4
p.L188L
c.564G>A
4 papers
NM_000551.4
p.L188L
c.564G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."