Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Y98_P99delFs

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
1 paper
NM_000551.4
p.Y98_P99delFs
c.294_297del4
Surrounding Variants
57 papers
NM_000551.4
p.Y98N
c.292T>A
187 papers
NM_000551.4
p.Y98H
c.292T>C
11 papers
NM_000551.4
p.Y98D
c.292T>G
2 papers
NM_000551.4
p.Y98insFs
c.293dupA
2 papers
NM_000551.4
p.Y98insFs
c.292_293ins10
8 papers
NM_000551.4
p.Y98fs
c.292_293fs
2 papers
NM_000551.4
p.Y98delFs
c.293delA
4 papers
NM_000551.4
p.Y98fs
c.292_293fs
1 paper
NM_000551.4
p.P99_T100delFs
c.295_299del5
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
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