Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S65delFs

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.S65delFs
c.194delC
Surrounding Variants
13 papers
NM_000551.4
p.S65T
c.193T>A
31 papers
NM_000551.4
p.S65P
c.193T>C
22 papers
NM_000551.4
p.S65A
c.193T>G
3 papers
NM_000551.4
p.S65fs
c.193_194fs
1 paper
NM_000551.4
p.S65delins
c.193_194delinsCA
1 paper
NM_000551.4
p.S65fs
c.193_194fs
2 papers
NM_000551.4
p.S65_N67delFs
c.195_201del7
2 papers
NM_000551.4
p.S65_N67delFs
c.194_201del8
28 papers
NM_000551.4
p.S65*
c.194C>A
1 paper
NM_000551.4
p.R64R
c.192C>A
2 papers
NM_000551.4
p.V66insFs
c.196dupG
89 papers
NM_000551.4
p.S65W
c.194C>G
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."