Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.I180_V181delFs

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.I180_V181delFs
c.540_543del4
Surrounding Variants
8 papers
NM_000551.4
p.I180N
c.539T>A
2 papers
NM_000551.4
p.I180T
c.539T>C
2 papers
NM_000551.4
p.I180S
c.539T>G
1 paper
NM_000551.4
p.I180delFs
c.540delC
1 paper
NM_000551.4
p.I180_R182del0
c.540_545del6
1 paper
NM_000551.4
p.V181_L184delFs
c.541_550del10
2 papers
NM_000551.4
p.I180_L188delFs
c.540_564del25
3 papers
NM_000551.4
p.I180fs
c.538_539fs
1 paper
NM_000551.4
p.I180L
c.538A>C
16 papers
NM_000551.4
p.I180V
c.538A>G
1 paper
NM_000551.4
p.I180M
c.540C>G
2 papers
NM_000551.4
p.V181delFs
c.541delG
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