Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P154L

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
40 papers
NM_000551.4
p.P154L
c.461C>T
Surrounding Variants
2 papers
NM_000551.4
p.P154Q
c.461C>A
1 paper
NM_000551.4
p.P154insFs
c.462dupA
1 paper
NM_000551.4
p.P154_V155ins1
c.462_463insCAA
2 papers
NM_000551.4
p.P154R
c.461C>G
7 papers
NM_000551.4
p.P154delFs
c.462delA
12 papers
NM_000551.4
p.P154P
c.462A>C
1 paper
NM_000551.4
p.P154P
c.462A>G
2 papers
NM_000551.4
p.P154P
c.462A>T
1 paper
NM_000551.4
p.V155delFs
c.463delG
3 papers
NM_000551.4
p.P154T
c.460C>A
3 papers
NM_000551.4
p.P154A
c.460C>G
8 papers
NM_000551.4
p.P154S
c.460C>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."