Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E160Fs

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.E160Fs
c.478delinsTCFs
Surrounding Variants
10 papers
NM_000551.4
p.E160K
c.478G>A
2 papers
NM_000551.4
p.E160insFs
c.479_480insA
1 paper
NM_000551.4
p.E160insFs
c.478_479insCA
5 papers
NM_000551.4
p.E160fs
c.478_479fs
1 paper
NM_000551.4
p.E160_R161insG
c.478_482ins3
3 papers
NM_000551.4
p.E160*
c.478G>T
5 papers
NM_000551.4
p.E160fs
c.478_479fs
1 paper
NM_000551.4
p.K159_E160insFs
c.477_478insG
1 paper
NM_000551.4
p.E160insFs
c.480dupG
1 paper
NM_000551.4
p.E160insFs
c.479_480insGC
7 papers
NM_000551.4
p.K159N
c.477A>C
1 paper
NM_000551.4
p.K159K
c.477A>G
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