Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.I151T

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
33 papers
NM_000551.4
p.I151T
c.452T>C
Surrounding Variants
14 papers
NM_000551.4
p.I151N
c.452T>A
24 papers
NM_000551.4
p.I151S
c.452T>G
1 paper
NM_000551.4
p.I151insFs
c.452_453insTC
5 papers
NM_000551.4
p.T152_L153delFs
c.456_457delAC
1 paper
NM_000551.4
p.T152_P154delFs
c.454_460del7
1 paper
NM_000551.4
p.I151insFs
c.451_452insC
1 paper
NM_000551.4
p.I151ins3
c.451_452ins9
1 paper
NM_000551.4
p.I151fs
c.451_452fs
3 papers
NM_000551.4
p.I151L
c.451A>C
4 papers
NM_000551.4
p.I151V
c.451A>G
15 papers
NM_000551.4
p.I151F
c.451A>T
2 papers
NM_000551.4
p.I151delFs
c.452delT
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