Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V181_R182delFs

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
2 papers
NM_000551.4
p.V181_R182delFs
c.542_545del4
Surrounding Variants
1 paper
NM_000551.4
p.I180M
c.540C>G
2 papers
NM_000551.4
p.V181delFs
c.541delG
1 paper
NM_000551.4
p.V181_R182delFs
c.541_545del5
3 papers
NM_000551.4
p.V181I
c.541G>A
1 paper
NM_000551.4
p.V181L
c.541G>C
6 papers
NM_000551.4
p.V181fs
c.541_542fs
1 paper
NM_000551.4
p.V181F
c.541G>T
1 paper
NM_198156.3
p.V140delFs
c.419_420delTC
1 paper
NM_000551.4
p.V181fs
c.541_542fs
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
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