Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S80R

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
59 papers
NM_000551.4
p.S80R
c.240T>A
Surrounding Variants
1 paper
NM_000551.4
p.S80S
c.240T>C
59 papers
NM_000551.4
p.S80R
c.240T>G
4 papers
NM_000551.4
p.P81delFs
c.242delC
2 papers
NM_000551.4
p.P81_R82del1
c.242_244delCGC
1 paper
NM_000551.4
p.P81_R82delFs
c.242_246del5
6 papers
NM_000551.4
p.P81T
c.241C>A
1 paper
NM_000551.4
p.P81fs
c.241_242fs
5 papers
NM_000551.4
p.P81A
c.241C>G
92 papers
NM_000551.4
p.P81S
c.241C>T
4 papers
NM_000551.4
p.R82_V83delFs
c.246_247delCG
1 paper
NM_000551.4
p.P81fs
c.241_242fs
1 paper
NM_000551.4
p.R82_V83delFs
c.244_247del4
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