Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.G14S

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.G14S
c.40G>A
Surrounding Variants
1 paper
NM_000551.4
p.G14R
c.40G>C
1 paper
NM_000551.4
p.G14C
c.40G>T
1 paper
NM_000551.4
p.G14_E16del3
c.40_47del9
2 papers
NM_000551.4
p.G14D
c.41G>A
1 paper
NM_000551.4
p.G14A
c.41G>C
1 paper
NM_000551.4
p.G14insFs
c.41_42insA
1 paper
NM_000551.4
p.G14V
c.41G>T
1 paper
NM_000551.4
p.V13E
c.38T>A
1 paper
NM_000551.4
p.V13A
c.38T>C
1 paper
NM_000551.4
p.V13G
c.38T>G
1 paper
NM_000551.4
p.V13I
c.37G>A
1 paper
NM_000551.4
p.A15T
c.43G>A
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