Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L178_D179del2

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.L178_D179del2
c.532_536del6
Surrounding Variants
4 papers
NM_000551.4
p.R177_L178ins6
c.531_532ins18
2 papers
NM_000551.4
p.L178delFs
c.532delC
2 papers
NM_000551.4
p.R177_V181Fs
c.531_542delinsTCFs
1 paper
NM_000551.4
p.L178_R182del5
c.532_545del15
1 paper
NM_000551.4
p.L178_L184del7
c.532_551del21
3 papers
NM_000551.4
p.L178M
c.532C>A
6 papers
NM_000551.4
p.L178fs
c.532_533fs
4 papers
NM_000551.4
p.L178V
c.532C>G
1 paper
NM_000551.4
p.L178L
c.532C>T
3 papers
NM_000551.4
p.L178delFs
c.533delT
3 papers
NM_000551.4
p.L178delFs
c.533_534delTG
2 papers
NM_000551.4
p.L178fs
c.532_533fs
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."