Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V84L

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
72 papers
NM_000551.4
p.V84L
c.250G>C
Surrounding Variants
14 papers
NM_000551.4
p.V84M
c.250G>A
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.V84fs
c.250_251fs
1 paper
NM_000551.4
p.V84_L85del1
c.251_253delTGC
1 paper
NM_000551.4
p.V83V
c.249C>A
1 paper
NM_000551.4
p.V83V
c.249C>G
1 paper
NM_000551.4
p.V83V
c.249C>T
1 paper
NM_000551.4
p.V84del1
c.250_251delGTG
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
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