Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P99Q

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.P99Q
c.296C>A
Surrounding Variants
2 papers
NM_000551.4
p.T100insFs
c.298dupA
3 papers
NM_000551.4
p.P99R
c.296C>G
7 papers
NM_000551.4
p.P99L
c.296C>T
3 papers
NM_000551.4
p.T100delFs
c.298delA
1 paper
NM_000551.4
p.P99P
c.297A>C
1 paper
NM_000551.4
p.P99P
c.297A>G
1 paper
NM_000551.4
p.P99P
c.297A>T
1 paper
NM_000551.4
p.T100delFs
c.298_299delAC
1 paper
NM_000551.4
p.T100del1
c.298_299delACG
3 papers
NM_000551.4
p.P99T
c.295C>A
1 paper
NM_000551.4
p.T100insFs
c.298_299ins4
6 papers
NM_000551.4
p.P99fs
c.295_296fs
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