Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R64fs

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
2 papers
NM_000551.4
p.R64fs
c.190_191fs
Surrounding Variants
5 papers
NM_000551.4
p.R64S
c.190C>A
2 papers
NM_000551.4
p.R64fs
c.190_191fs
3 papers
NM_000551.4
p.R64G
c.190C>G
5 papers
NM_000551.4
p.R64C
c.190C>T
2 papers
NM_000551.4
p.R64_V66delFs
c.192_198del7
3 papers
NM_000551.4
p.R64H
c.191G>A
2 papers
NM_000551.4
p.L63L
c.189G>A
52 papers
NM_000551.4
p.R64P
c.191G>C
1 paper
NM_000551.4
p.L63L
c.189G>C
2 papers
NM_000551.4
p.R64insFs
c.190_191insTC
3 papers
NM_000551.4
p.R64L
c.191G>T
1 paper
NM_000551.4
p.L63L
c.189G>T
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