Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.C162_Q164Fs

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.C162_Q164Fs
c.484_490delinsCTFs
Surrounding Variants
4 papers
NM_000551.4
p.C162S
c.484T>A
39 papers
NM_000551.4
p.C162R
c.484T>C
1 paper
NM_000551.4
p.C162fs
c.484_485fs
1 paper
NM_000551.4
p.C162fs
c.484_485fs
1 paper
NM_000551.4
p.L163_S168del6
c.487_503del18
2 papers
NM_000551.4
p.C162_V166del5
c.484_497del15
44 papers
NM_000551.4
p.C162Y
c.485G>A
4 papers
NM_000551.4
p.C162S
c.485G>C
80 papers
NM_000551.4
p.C162F
c.485G>T
3 papers
NM_000551.4
p.C162delFs
c.486delC
1 paper
NM_000551.4
p.C162_V165del0
c.486_494del9
11 papers
NM_000551.4
p.C162*
c.486C>A
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."