Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L158_L163insFs

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.L158_L163insFs
c.473_489dup17
Surrounding Variants
6 papers
NM_000551.4
p.T157fs
c.469_470fs
1 paper
NM_000551.4
p.T157P
c.469A>C
1 paper
NM_000551.4
p.T157delFs
c.470delC
1 paper
NM_000551.4
p.L158delFs
c.472_473delCT
2 papers
NM_000551.4
p.T157fs
c.469_470fs
1 paper
NM_000551.4
p.T157insFs
c.470_471insA
3 papers
NM_000551.4
p.T157insFs
c.471dupT
2 papers
NM_000551.4
p.T157S
c.470C>G
49 papers
NM_000551.4
p.T157I
c.470C>T
14 papers
NM_000551.4
p.Y156*
c.468T>A
14 papers
NM_000551.4
p.Y156*
c.468T>G
1 paper
NM_000551.4
p.Y156_T157insFs
c.468_469ins4
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