Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R182insFs

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.R182insFs
c.545_546insCA
Surrounding Variants
16 papers
NM_000551.4
p.R182K
c.545G>A
1 paper
NM_000551.4
p.R182T
c.545G>C
1 paper
NM_000551.4
p.R182insFs
c.545_546ins4
1 paper
NM_000551.4
p.S183_Q195del13
c.547_584del39
1 paper
NM_000551.4
p.R182_S183insFs
c.546_547insG
4 papers
NM_000551.4
p.R182fs
c.544_545fs
1 paper
NM_000551.4
p.R182R
c.544A>C
5 papers
NM_000551.4
p.R182G
c.544A>G
3 papers
NM_000551.4
p.R182delFs
c.545delG
1 paper
NM_000551.4
p.R182fs
c.544_545fs
1 paper
NM_000551.4
p.S183delFs
c.547delT
1 paper
NM_000551.4
p.S183_D187del5
c.547_560del15
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