Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.N90delFs

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
2 papers
NM_000551.4
p.N90delFs
c.270delC
Surrounding Variants
1 paper
NM_000551.4
p.N90insFs
c.270dupC
3 papers
NM_000551.4
p.N90T
c.269A>C
7 papers
NM_000551.4
p.N90S
c.269A>G
44 papers
NM_000551.4
p.N90I
c.269A>T
1 paper
NM_000551.4
p.F91del1
c.271_273delTTC
1 paper
NM_000551.4
p.N90_E94delFs
c.270_280del11
1 paper
NM_000551.4
p.N90_E94delFs
c.270_282del13
4 papers
NM_000551.4
p.N90fs
c.268_269fs
4 papers
NM_000551.4
p.N90H
c.268A>C
5 papers
NM_000551.4
p.N90D
c.268A>G
13 papers
NM_000551.4
p.N90Y
c.268A>T
5 papers
NM_000551.4
p.N90fs
c.268_269fs
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