Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V166I

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
5 papers
NM_000551.4
p.V166I
c.496G>A
Surrounding Variants
1 paper
NM_000551.4
p.V166L
c.496G>C
4 papers
NM_000551.4
p.V166fs
c.496_497fs
1 paper
NM_000551.4
p.V166_R167insA
c.496_500ins3
41 papers
NM_000551.4
p.V166F
c.496G>T
1 paper
NM_000551.4
p.V166fs
c.496_497fs
1 paper
NM_000551.4
p.V166_L169del0
c.497_505del9
15 papers
NM_000551.4
p.V166D
c.497T>A
10 papers
NM_000551.4
p.V166A
c.497T>C
11 papers
NM_000551.4
p.V166G
c.497T>G
4 papers
NM_000551.4
p.V166delFs
c.498delC
1 paper
NM_000551.4
p.R167_S168del2
c.499_503del6
1 paper
NM_000551.4
p.R167_D179del13
c.499_536del39
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