Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R64insFs

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
2 papers
NM_000551.4
p.R64insFs
c.190_191insTC
Surrounding Variants
2 papers
NM_000551.4
p.L63L
c.189G>A
1 paper
NM_000551.4
p.L63L
c.189G>C
1 paper
NM_000551.4
p.L63L
c.189G>T
5 papers
NM_000551.4
p.R64S
c.190C>A
2 papers
NM_000551.4
p.R64fs
c.190_191fs
3 papers
NM_000551.4
p.R64G
c.190C>G
5 papers
NM_000551.4
p.R64C
c.190C>T
2 papers
NM_000551.4
p.R64fs
c.190_191fs
2 papers
NM_000551.4
p.R64_V66delFs
c.192_198del7
4 papers
NM_000551.4
p.L63Q
c.188T>A
11 papers
NM_000551.4
p.L63P
c.188T>C
5 papers
NM_000551.4
p.L63R
c.188T>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."