Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.N150insFs

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.N150insFs
c.449_450ins7
Surrounding Variants
4 papers
NM_000551.4
p.N150S
c.449A>G
5 papers
NM_000551.4
p.N150delFs
c.450delT
1 paper
NM_000551.4
p.N150_T152del0
c.450_455del6
3 papers
NM_000551.4
p.I151insFs
c.451_452dupAT
1 paper
NM_000551.4
p.N150_I151insFs
c.449_452dup4
3 papers
NM_000551.4
p.N150_I151ins1
c.450_451insTAT
6 papers
NM_000551.4
p.N150fs
c.448_449fs
3 papers
NM_000551.4
p.N150insFs
c.448_449insT
1 paper
NM_000551.4
p.N150delins
c.449delinsA
1 paper
NM_000551.4
p.I151delFs
c.451_452delAT
4 papers
NM_000551.4
p.N150fs
c.448_449fs
4 papers
NM_000551.4
p.N150K
c.450T>A
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