Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R200R

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.R200R
c.600G>T
Surrounding Variants
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
3 papers
NM_000551.4
p.R200Q
c.599G>A
4 papers
NM_000551.4
p.R200P
c.599G>C
2 papers
NM_000551.4
p.R200ins1
c.599_600insAGA
1 paper
NM_000551.4
p.R200L
c.599G>T
1 paper
NM_000551.4
p.R200_L201delFs
c.600_601delGC
1 paper
NM_000551.4
p.R200fs
c.598_599fs
253 papers
NM_000551.4
p.R200W
c.598C>T
1 paper
NM_000551.4
p.L201Q
c.602T>A
6 papers
NM_000551.4
p.L201P
c.602T>C
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