Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V155_E160delFs

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.V155_E160delFs
c.464_480del17
Surrounding Variants
3 papers
NM_000551.4
p.V155Splc
c.464-3C>T
1 paper
NM_000551.4
p.V155_E160del0
c.464_478del15
1 paper
NM_000551.4
p.V155Splc
c.464-2A>C
15 papers
NM_000551.4
p.V155Splc
c.464-2A>G
2 papers
NM_000551.4
p.V155Splc
c.464-2A>T
2 papers
NM_000551.4
p.V155_L158delFs
c.464_474del11
14 papers
NM_000551.4
p.V155Splc
c.464-1G>A
14 papers
NM_000551.4
p.V155Splc
c.464-1G>C
11 papers
NM_000551.4
p.V155Splc
c.464-1G>T
2 papers
NM_000551.4
p.V155delFs
c.464delT
1 paper
NM_000551.4
p.V155_Y156del1
c.464_466delTGT
1 paper
NM_000551.4
p.V155_Y156delFs
c.464_467del4
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."