Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L184R

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
10 papers
NM_000551.4
p.L184R
c.551T>G
Surrounding Variants
10 papers
NM_000551.4
p.L184H
c.551T>A
34 papers
NM_000551.4
p.L184P
c.551T>C
2 papers
NM_000551.4
p.L184delFs
c.552delC
1 paper
NM_000551.4
p.L184I
c.550C>A
3 papers
NM_000551.4
p.L184fs
c.550_551fs
1 paper
NM_000551.4
p.L184insFs
c.551dupT
1 paper
NM_000551.4
p.L184V
c.550C>G
5 papers
NM_000551.4
p.L184F
c.550C>T
3 papers
NM_000551.4
p.L184L
c.552C>T
1 paper
NM_000551.4
p.L184delFs
c.551delT
2 papers
NM_000551.4
p.Y185_E186del2
c.553_557del6
1 paper
NM_000551.4
p.Y185_L188delFs
c.554_563del10
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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."