Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q73*

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
40 papers
NM_000551.4
p.Q73*
c.217C>T
Surrounding Variants
5 papers
NM_000551.4
p.Q73K
c.217C>A
1 paper
NM_000551.4
p.Q73insFs
c.218dupA
8 papers
NM_000551.4
p.Q73fs
c.217_218fs
4 papers
NM_000551.4
p.Q73E
c.217C>G
3 papers
NM_000551.4
p.Q73delFs
c.218delA
1 paper
NM_000551.4
p.Q73delFs
c.218_219delAG
4 papers
NM_000551.4
p.Q73fs
c.217_218fs
1 paper
NM_000551.4
p.Q73_V74del1
c.218_220delAGG
1 paper
NM_000551.4
p.Q73_V74delFs
c.218_221del4
1 paper
NM_000551.4
p.Q73_F76del0
c.218_226del9
3 papers
NM_000551.4
p.Q73P
c.218A>C
7 papers
NM_000551.4
p.Q73R
c.218A>G
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