Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E26Q

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.E26Q
c.76G>C
Surrounding Variants
4 papers
NM_000551.4
p.E26K
c.76G>A
1 paper
NM_000551.4
p.E26A
c.77A>C
4 papers
NM_000551.4
p.E26G
c.77A>G
1 paper
NM_000551.4
p.E26V
c.77A>T
1 paper
NM_000551.4
p.E26delFs
c.76delG
1 paper
NM_000551.4
p.E26D
c.78A>C
1 paper
NM_000551.4
p.E26D
c.78A>T
2 papers
NM_000551.4
p.P25R
c.74C>G
61 papers
NM_000551.4
p.P25L
c.74C>T
1 paper
NM_000551.4
p.P25_E26delFs
c.75_76delTG
1 paper
NM_000551.4
p.P25T
c.73C>A
1 paper
NM_000551.4
p.P25A
c.73C>G
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