Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.K196fs

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.K196fs
c.586_587fs
Surrounding Variants
6 papers
NM_000551.4
p.K196fs
c.586_587fs
1 paper
NM_000551.4
p.K196_D197insG
c.586_590ins3
8 papers
NM_000551.4
p.K196E
c.586A>G
12 papers
NM_000551.4
p.K196*
c.586A>T
1 paper
NM_000551.4
p.D197_Q209del13
c.589_626del39
9 papers
NM_000551.4
p.K196R
c.587A>G
1 paper
NM_000551.4
p.K196I
c.587A>T
1 paper
NM_000551.4
p.Q195H
c.585G>C
2 papers
NM_000551.4
p.K196insFs
c.588dupA
1 paper
NM_000551.4
p.Q195H
c.585G>T
1 paper
NM_000551.4
p.K196delFs
c.588delA
2 papers
NM_000551.4
p.K196delFs
c.587_588delAA
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