Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V66del1

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.V66del1
c.196_198delGTG
Surrounding Variants
28 papers
NM_000551.4
p.S65*
c.194C>A
2 papers
NM_000551.4
p.V66insFs
c.196dupG
89 papers
NM_000551.4
p.S65W
c.194C>G
89 papers
NM_000551.4
p.S65L
c.194C>T
1 paper
NM_000551.4
p.S65delins
c.194_195delinsAA
4 papers
NM_000551.4
p.S65delFs
c.195delG
3 papers
NM_000551.4
p.V66_V74del0
c.197_220del24
7 papers
NM_000551.4
p.S65S
c.195G>A
2 papers
NM_000551.4
p.S65S
c.195G>C
1 paper
NM_000551.4
p.S65S
c.195G>T
13 papers
NM_000551.4
p.S65T
c.193T>A
31 papers
NM_000551.4
p.S65P
c.193T>C
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