Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L198delFs

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
4 papers
NM_000551.4
p.L198delFs
c.592delC
Surrounding Variants
1 paper
NM_198156.3
p.D156G
c.467A>G
1 paper
NM_000551.4
p.D197V
c.590A>T
1 paper
NM_000551.4
p.D197E
c.591C>A
1 paper
NM_000551.4
p.D197E
c.591C>G
8 papers
NM_000551.4
p.D197N
c.589G>A
2 papers
NM_000551.4
p.D197H
c.589G>C
2 papers
NM_000551.4
p.D197fs
c.589_590fs
1 paper
NM_000551.4
p.D197_L198insG
c.589_593ins3
2 papers
NM_000551.4
p.D197Y
c.589G>T
1 paper
NM_000551.4
p.D197delFs
c.590delA
2 papers
NM_000551.4
p.D197fs
c.589_590fs
2 papers
NM_000551.4
p.K196_D197insFs
c.588_589insC
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