Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R60R

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.R60R
c.180G>A
Surrounding Variants
1 paper
NM_000551.4
p.R60R
c.180G>C
2 papers
NM_000551.4
p.P61insFs
c.183dupC
1 paper
NM_000551.4
p.R60R
c.180G>T
8 papers
NM_000551.4
p.P61delFs
c.183delC
1 paper
NM_000551.4
p.P61_S65delFs
c.181_193del13
3 papers
NM_000551.4
p.P61T
c.181C>A
4 papers
NM_000551.4
p.P61fs
c.181_182fs
4 papers
NM_000551.4
p.P61A
c.181C>G
4 papers
NM_000551.4
p.P61S
c.181C>T
2 papers
NM_000551.4
p.P61fs
c.181_182fs
1 paper
NM_000551.4
p.P61_L63delFs
c.183_187del5
3 papers
NM_000551.4
p.R60Q
c.179G>A
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