Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.N7_A11del0

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.N7_A11del0
c.21_32del12
Surrounding Variants
2 papers
NM_000551.4
p.N7T
c.20A>C
2 papers
NM_000551.4
p.N7I
c.20A>T
4 papers
NM_000551.4
p.N7D
c.19A>G
4 papers
NM_000551.4
p.N7K
c.21C>A
3 papers
NM_000551.4
p.N7K
c.21C>G
1 paper
NM_000551.4
p.E6D
c.18G>C
2 papers
NM_000551.4
p.E6D
c.18G>T
2 papers
NM_000551.4
p.W8R
c.22T>A
2 papers
NM_000551.4
p.W8R
c.22T>C
1 paper
NM_000551.4
p.W8_D9ins9
c.22_26ins27
3 papers
NM_000551.4
p.E6V
c.17A>T
3 papers
NM_000551.4
p.W8*
c.23G>A
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