Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S168insFs

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.S168insFs
c.502_503ins8
Surrounding Variants
6 papers
NM_000551.4
p.S168fs
c.502_503fs
1 paper
NM_000551.4
p.S168insFs
c.502_503ins8
1 paper
NM_000551.4
p.S168G
c.502A>G
2 papers
NM_000551.4
p.S168C
c.502A>T
2 papers
NM_000551.4
p.S168fs
c.502_503fs
1 paper
NM_000551.4
p.S168_N174delFs
c.503_522del20
1 paper
NM_000551.4
p.R167R
c.501G>A
2 papers
NM_000551.4
p.S168T
c.503G>C
1 paper
NM_000551.4
p.R167R
c.501G>C
1 paper
NM_000551.4
p.R167_S168insFs
c.501_502ins8
1 paper
NM_000551.4
p.R167_S168Fs
c.501_502delinsTFs
1 paper
NM_000551.4
p.S168_L169delFs
c.502_505del4
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