Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V84V

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.V84V
c.252G>C
Surrounding Variants
1 paper
NM_000551.4
p.V84V
c.252G>A
2 papers
NM_000551.4
p.L85_P86insFs
c.254_258dup5
1 paper
NM_000551.4
p.V84V
c.252G>T
2 papers
NM_000551.4
p.L85delFs
c.253delC
2 papers
NM_000551.4
p.L85_V87delFs
c.253_260del8
1 paper
NM_000551.4
p.L85_D92delFs
c.254_276del23
3 papers
NM_000551.4
p.L85M
c.253C>A
7 papers
NM_000551.4
p.L85fs
c.253_254fs
1 paper
NM_000551.4
p.L85insFs
c.253_254ins38
4 papers
NM_000551.4
p.L85insFs
c.254dupT
3 papers
NM_000551.4
p.L85V
c.253C>G
2 papers
NM_000551.4
p.L85L
c.253C>T
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