Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P59A

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.P59A
c.175C>G
Surrounding Variants
2 papers
NM_000551.4
p.P59T
c.175C>A
2 papers
NM_000551.4
p.P59fs
c.175_176fs
5 papers
NM_000551.4
p.P59S
c.175C>T
1 paper
NM_000551.4
p.R60delFs
c.178_179delCG
4 papers
NM_000551.4
p.P59fs
c.175_176fs
3 papers
NM_000551.4
p.P59Fs
c.175_177delinsTCFs
1 paper
NM_000551.4
p.R60_R64delFs
c.179_192del14
1 paper
NM_000551.4
p.R60_E70delFs
c.180_208del29
2 papers
NM_000551.4
p.P59Q
c.176C>A
3 papers
NM_000551.4
p.P59R
c.176C>G
3 papers
NM_000551.4
p.P59L
c.176C>T
1 paper
NM_000551.4
p.R58R
c.174G>A
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