Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P40P

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.P40P
c.120G>T
Surrounding Variants
2 papers
NM_000551.4
p.P40Q
c.119C>A
3 papers
NM_000551.4
p.P40R
c.119C>G
7 papers
NM_000551.4
p.P40L
c.119C>T
1 paper
NM_000551.4
p.P40delFs
c.120delG
1 paper
NM_000551.4
p.P40_E42delFs
c.120_126del7
3 papers
NM_000551.4
p.E41K
c.121G>A
2 papers
NM_000551.4
p.E41Q
c.121G>C
1 paper
NM_000551.4
p.E41_E42insA
c.121_125ins3
1 paper
NM_000551.4
p.E41*
c.121G>T
2 papers
NM_000551.4
p.E41delFs
c.122delA
1 paper
NM_000551.4
p.E41fs
c.121_122fs
1 paper
NM_000551.4
p.E41A
c.122A>C
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