Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V83G

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
3 papers
NM_000551.4
p.V83G
c.248T>G
Surrounding Variants
3 papers
NM_000551.4
p.V83D
c.248T>A
3 papers
NM_000551.4
p.V83A
c.248T>C
1 paper
NM_000551.4
p.V83_V84delFs
c.249_250delCG
3 papers
NM_000551.4
p.V84_L85delFs
c.250_253del4
1 paper
NM_000551.4
p.V84_P86delFs
c.250_256del7
2 papers
NM_000551.4
p.V83_P86del0
c.249_257del9
2 papers
NM_000551.4
p.V84_E94del0
c.251_280del30
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.V83I
c.247G>A
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