Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L201P

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
6 papers
NM_000551.4
p.L201P
c.602T>C
Surrounding Variants
1 paper
NM_000551.4
p.L201Q
c.602T>A
1 paper
NM_000551.4
p.L201R
c.602T>G
1 paper
NM_000551.4
p.L201insFs
c.603dupG
1 paper
NM_000551.4
p.T202_Q203del2
c.604_608del6
2 papers
NM_000551.4
p.L201M
c.601C>A
2 papers
NM_000551.4
p.L201V
c.601C>G
1 paper
NM_000551.4
p.L201L
c.601C>T
6 papers
NM_000551.4
p.Q203delFs
c.607_608delCA
1 paper
NM_000551.4
p.T202fs
c.604_605fs
1 paper
NM_000551.4
p.T202fs
c.604_605fs
1 paper
NM_000551.4
p.R200R
c.600G>T
3 papers
NM_000551.4
p.T202insFs
c.606dupA
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