Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L158P

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
72 papers
NM_000551.4
p.L158P
c.473T>C
Surrounding Variants
36 papers
NM_000551.4
p.L158Q
c.473T>A
8 papers
NM_000551.4
p.L158R
c.473T>G
1 paper
NM_000551.4
p.L158delFs
c.474delG
1 paper
NM_000551.4
p.L158_K159delFs
c.474_477del4
1 paper
NM_000551.4
p.L158M
c.472C>A
8 papers
NM_000551.4
p.L158fs
c.472_473fs
7 papers
NM_000551.4
p.L158insFs
c.473_474insT
1 paper
NM_000551.4
p.L158insFs
c.473_474insTT
3 papers
NM_000551.4
p.L158ins1
c.473_474insTTT
56 papers
NM_000551.4
p.L158V
c.472C>G
1 paper
NM_000551.4
p.L158L
c.472C>T
2 papers
NM_000551.4
p.L158delFs
c.473delT
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