Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.D187_N193delFs

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.D187_N193delFs
c.559_578del20
Surrounding Variants
16 papers
NM_000551.4
p.E186K
c.556G>A
1 paper
NM_000551.4
p.E186insFs
c.558dupA
3 papers
NM_000551.4
p.E186fs
c.556_557fs
8 papers
NM_000551.4
p.E186*
c.556G>T
3 papers
NM_000551.4
p.E186delFs
c.558delA
2 papers
NM_000551.4
p.E186fs
c.556_557fs
1 paper
NM_000551.4
p.E186_D187delFs
c.557_561del5
1 paper
NM_000551.4
p.E186A
c.557A>C
5 papers
NM_000551.4
p.E186G
c.557A>G
16 papers
NM_000551.4
p.Y185*
c.555C>A
1 paper
NM_000551.4
p.E186insFs
c.556dupG
17 papers
NM_000551.4
p.Y185*
c.555C>G
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