Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V84delFs

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
4 papers
NM_000551.4
p.V84delFs
c.252delG
Surrounding Variants
7 papers
NM_000551.4
p.V84E
c.251T>A
2 papers
NM_000551.4
p.V84A
c.251T>C
3 papers
NM_000551.4
p.V84G
c.251T>G
1 paper
NM_000551.4
p.L85_P95del0
c.254_283del30
14 papers
NM_000551.4
p.V84M
c.250G>A
1 paper
NM_000551.4
p.V84V
c.252G>A
72 papers
NM_000551.4
p.V84L
c.250G>C
1 paper
NM_000551.4
p.V84V
c.252G>C
2 papers
NM_000551.4
p.L85_P86insFs
c.254_258dup5
3 papers
NM_000551.4
p.V84fs
c.250_251fs
75 papers
NM_000551.4
p.V84L
c.250G>T
1 paper
NM_000551.4
p.V84V
c.252G>T
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