Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V155Splc

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
15 papers
NM_000551.4
p.V155Splc
c.463+2T>C
Surrounding Variants
5 papers
NM_000551.4
p.V155Splc
c.463+2T>A
5 papers
NM_000551.4
p.V155Splc
c.463+2T>G
8 papers
NM_000551.4
p.V155Splc
c.463+3A>G
3 papers
NM_000551.4
p.V155Splc
c.463+3A>T
13 papers
NM_000551.4
p.V155Splc
c.463+1G>A
2 papers
NM_000551.4
p.V155Splc
c.463+1G>C
13 papers
NM_000551.4
p.V155Splc
c.463+1G>T
8 papers
NM_000551.4
p.V155E
c.464T>A
3 papers
NM_000551.4
p.V155A
c.464T>C
12 papers
NM_000551.4
p.V155G
c.464T>G
2 papers
NM_000551.4
p.V155Splc
c.463+4C>G
25 papers
NM_000551.4
p.V155M
c.463G>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."