Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L89H

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
58 papers
NM_000551.4
p.L89H
c.266T>A
Surrounding Variants
64 papers
NM_000551.4
p.L89P
c.266T>C
21 papers
NM_000551.4
p.L89R
c.266T>G
1 paper
NM_000551.4
p.N90del1
c.268_270delAAC
3 papers
NM_000551.4
p.L89I
c.265C>A
1 paper
NM_000551.4
p.L89L
c.267C>A
2 papers
NM_000551.4
p.L89fs
c.265_266fs
1 paper
NM_000551.4
p.L89_N90insFs
c.267_268insTA
3 papers
NM_000551.4
p.L89V
c.265C>G
1 paper
NM_000551.4
p.L89L
c.267C>G
6 papers
NM_000551.4
p.L89F
c.265C>T
1 paper
NM_000551.4
p.L89L
c.267C>T
5 papers
NM_000551.4
p.N90delFs
c.269delA
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."