Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Y185_H191delFs

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.Y185_H191delFs
c.554_572del19
Surrounding Variants
1 paper
NM_000551.4
p.Y185H
c.553T>C
2 papers
NM_000551.4
p.Y185fs
c.553_554fs
2 papers
NM_000551.4
p.Y185fs
c.553_554fs
1 paper
NM_000551.4
p.Y185S
c.554A>C
2 papers
NM_000551.4
p.Y185C
c.554A>G
5 papers
NM_000551.4
p.Y185F
c.554A>T
NM_198156.3
p.Y144F
c.431A>T
1 paper
NM_000551.4
p.Y185delFs
c.555delC
3 papers
NM_000551.4
p.L184L
c.552C>T
2 papers
NM_000551.4
p.Y185_E186del2
c.553_557del6
16 papers
NM_000551.4
p.Y185*
c.555C>A
1 paper
NM_000551.4
p.E186insFs
c.556dupG
17 papers
NM_000551.4
p.Y185*
c.555C>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."