Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.K159N

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
7 papers
NM_000551.4
p.K159N
c.477A>C
Surrounding Variants
1 paper
NM_000551.4
p.K159_E160insFs
c.477_478insG
1 paper
NM_000551.4
p.K159K
c.477A>G
7 papers
NM_000551.4
p.K159N
c.477A>T
1 paper
NM_000551.4
p.E160delFs
c.478delG
2 papers
NM_000551.4
p.E160_R161delFs
c.478_481del4
1 paper
NM_000551.4
p.E160_V165del0
c.479_493del15
1 paper
NM_000551.4
p.E160_P172del13
c.478_515del39
2 papers
NM_000551.4
p.E160_N174del15
c.478_521del45
1 paper
NM_000551.4
p.E160_Y175del16
c.478_524del48
1 paper
NM_000551.4
p.K159_E160insFs
c.477_478insCA
1 paper
NM_000551.4
p.K159ins1
c.476_477insTTT
8 papers
NM_000551.4
p.K159R
c.476A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."