Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S80insFs

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.S80insFs
c.239_240insC
Surrounding Variants
40 papers
NM_000551.4
p.S80N
c.239G>A
2 papers
NM_000551.4
p.S80T
c.239G>C
56 papers
NM_000551.4
p.S80I
c.239G>T
2 papers
NM_000551.4
p.S80_V83del0
c.240_248del9
1 paper
NM_000551.4
p.S80insFs
c.239dupG
4 papers
NM_000551.4
p.S80fs
c.238_239fs
59 papers
NM_000551.4
p.S80R
c.238A>C
17 papers
NM_000551.4
p.S80G
c.238A>G
2 papers
NM_000551.4
p.S80C
c.238A>T
1 paper
NM_000551.4
p.S80delFs
c.239delG
2 papers
NM_000551.4
p.S80delins
c.238_239delinsTT
2 papers
NM_000551.4
p.S80fs
c.238_239fs
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