Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q195_K196delFs

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.Q195_K196delFs
c.585_586delGA
Surrounding Variants
1 paper
NM_000551.4
p.Q195K
c.583C>A
1 paper
NM_000551.4
p.K196_D197insFs
c.587_590dup4
1 paper
NM_000551.4
p.Q195fs
c.583_584fs
31 papers
NM_000551.4
p.Q195*
c.583C>T
1 paper
NM_000551.4
p.Q195_L198delFs
c.584_593del10
3 papers
NM_000551.4
p.K196_E204del9
c.586_611del27
1 paper
NM_000551.4
p.Q195P
c.584A>C
5 papers
NM_000551.4
p.Q195R
c.584A>G
1 paper
NM_000551.4
p.K196_L198del3
c.586_593del9
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
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