Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.T100_G106delFs

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.T100_G106delFs
c.300_318del19
Surrounding Variants
1 paper
NM_000551.4
p.T100insFs
c.299dupC
5 papers
NM_000551.4
p.T100fs
c.298_299fs
2 papers
NM_000551.4
p.T100_L101insC
c.298_302ins3
3 papers
NM_000551.4
p.T100P
c.298A>C
9 papers
NM_000551.4
p.T100A
c.298A>G
4 papers
NM_000551.4
p.T100S
c.298A>T
5 papers
NM_000551.4
p.T100delFs
c.299delC
3 papers
NM_000551.4
p.T100_L101delFs
c.300_301delGC
2 papers
NM_000551.4
p.T100fs
c.298_299fs
1 paper
NM_000551.4
p.L101_P103del0
c.302_307del6
1 paper
NM_000551.4
p.T100_P103Fs
c.298_308delinsTFs
1 paper
NM_000551.4
p.P99P
c.297A>C
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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."