Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.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.P99delFs
c.296_297delCA
Surrounding Variants
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
4 papers
NM_000551.4
p.P99A
c.295C>G
3 papers
NM_000551.4
p.P99S
c.295C>T
1 paper
NM_000551.4
p.P99Fs
c.295_296delinsTFs
3 papers
NM_000551.4
p.P99fs
c.295_296fs
1 paper
NM_000551.4
p.P99_L101Fs
c.295_302delinsAFs
1 paper
NM_000551.4
p.T100_T105delFs
c.298_313del16
15 papers
NM_000551.4
p.Y98*
c.294C>A
3 papers
NM_000551.4
p.P99Q
c.296C>A
2 papers
NM_000551.4
p.T100insFs
c.298dupA
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