Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S72insFs

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.S72insFs
c.214_215insCT
Surrounding Variants
3 papers
NM_000551.4
p.P71H
c.212C>A
1 paper
NM_000551.4
p.P71insFs
c.212_213insT
3 papers
NM_000551.4
p.P71R
c.212C>G
3 papers
NM_000551.4
p.P71L
c.212C>T
3 papers
NM_000551.4
p.P71T
c.211C>A
1 paper
NM_000551.4
p.P71P
c.213C>A
1 paper
NM_000551.4
p.P71insFs
c.211_212insA
1 paper
NM_000551.4
p.P71_S72insFs
c.213_214insA
3 papers
NM_000551.4
p.P71fs
c.211_212fs
3 papers
NM_000551.4
p.P71_S72insFs
c.213_214insT
1 paper
NM_000551.4
p.P71insFs
c.211_212insT
2 papers
NM_000551.4
p.P71A
c.211C>G
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