Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Q203P

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
4 papers
NM_000551.4
p.Q203P
c.608A>C
Surrounding Variants
1 paper
NM_000551.4
p.Q203R
c.608A>G
1 paper
NM_000551.4
p.Q203K
c.607C>A
4 papers
NM_000551.4
p.Q203fs
c.607_608fs
1 paper
NM_000551.4
p.Q203_E204insA
c.607_611ins3
3 papers
NM_000551.4
p.Q203*
c.607C>T
2 papers
NM_000551.4
p.Q203delFs
c.608delA
2 papers
NM_000551.4
p.Q203fs
c.607_608fs
1 paper
NM_000551.4
p.Q203H
c.609G>T
4 papers
NM_000551.4
p.E204K
c.610G>A
2 papers
NM_000551.4
p.E204Q
c.610G>C
1 paper
NM_000551.4
p.E204fs
c.610_611fs
4 papers
NM_000551.4
p.E204delins
c.610_611delinsTA
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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."