Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.T152R

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.T152R
c.455C>G
Surrounding Variants
1 paper
NM_000551.4
p.T152K
c.455C>A
4 papers
NM_000551.4
p.T152I
c.455C>T
1 paper
NM_000551.4
p.T152delFs
c.456delA
1 paper
NM_000551.4
p.T152_P154delFs
c.456_462del7
3 papers
NM_000551.4
p.L153insFs
c.457dupC
1 paper
NM_000551.4
p.T152insFs
c.455dupC
3 papers
NM_000551.4
p.T152fs
c.454_455fs
9 papers
NM_000551.4
p.T152P
c.454A>C
1 paper
NM_000551.4
p.T152A
c.454A>G
2 papers
NM_000551.4
p.T152T
c.456A>T
1 paper
NM_000551.4
p.T152S
c.454A>T
2 papers
NM_000551.4
p.L153delFs
c.457delC
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