Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R161delFs

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.R161delFs
c.481delC
Surrounding Variants
3 papers
NM_000551.4
p.E160D
c.480G>C
3 papers
NM_000551.4
p.E160D
c.480G>T
1 paper
NM_000551.4
p.R161_C162del2
c.481_485del6
1 paper
NM_000551.4
p.E160insFs
c.480dupG
1 paper
NM_000551.4
p.E160insFs
c.479_480insGC
6 papers
NM_000551.4
p.E160V
c.479A>T
2 papers
NM_000551.4
p.E160delFs
c.480delG
1 paper
NM_000551.4
p.R161delFs
c.481_482delCG
3 papers
NM_000551.4
p.R161R
c.481C>A
2 papers
NM_000551.4
p.R161insFs
c.481_482insAG
1 paper
NM_000551.4
p.R161insFs
c.481_482insG
1 paper
NM_000551.4
p.R161_R167insFs
c.482_500dup19
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