Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V155delins

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.V155delins
c.464_465delinsGC
Surrounding Variants
5 papers
NM_000551.4
p.V155E
c.464T>A
1 paper
NM_000551.4
p.V155A
c.464T>C
3 papers
NM_000551.4
p.V155G
c.464T>G
1 paper
NM_000551.4
p.V155delins
c.464_465delinsAC
4 papers
NM_000551.4
p.V155fs
c.463_464fs
1 paper
NM_000551.4
p.V155_T157del0
c.465_470del6
14 papers
NM_000551.4
p.V155Splc
c.464-1G>A
1 paper
NM_000551.4
p.V155V
c.465G>A
14 papers
NM_000551.4
p.V155Splc
c.464-1G>C
1 paper
NM_000551.4
p.V155_Y156insFs
c.465_466insTA
1 paper
NM_000551.4
p.Y156_T157insFs
c.466_469dup4
1 paper
NM_000551.4
p.V155_Y156ins2
c.465_466ins6
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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."