Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Y98*

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
15 papers
NM_000551.4
p.Y98*
c.294C>G
Surrounding Variants
15 papers
NM_000551.4
p.Y98*
c.294C>A
2 papers
NM_000551.4
p.Y98Y
c.294C>T
1 paper
NM_000551.4
p.P99insFs
c.296dupC
18 papers
NM_000551.4
p.Y98S
c.293A>C
29 papers
NM_000551.4
p.Y98C
c.293A>G
13 papers
NM_000551.4
p.Y98F
c.293A>T
13 papers
NM_000551.4
p.P99delFs
c.296delC
1 paper
NM_000551.4
p.P99_P102delFs
c.296_305del10
1 paper
NM_000551.4
p.P99_P103delFs
c.296_308del13
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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