Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E6K

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.E6K
c.16G>A
Surrounding Variants
1 paper
NM_000551.4
p.E6*
c.16G>T
1 paper
NM_000551.4
p.E6_E12delFs
c.17_35del19
3 papers
NM_000551.4
p.E6V
c.17A>T
1 paper
NM_000551.4
p.A5A
c.15G>A
1 paper
NM_000551.4
p.A5E
c.14C>A
2 papers
NM_000551.4
p.A5V
c.14C>T
1 paper
NM_000551.4
p.E6D
c.18G>C
2 papers
NM_000551.4
p.E6D
c.18G>T
4 papers
NM_000551.4
p.N7D
c.19A>G
1 paper
NM_000551.4
p.A5P
c.13G>C
1 paper
NM_000551.4
p.A5fs
c.13_14fs
1 paper
NM_000551.4
p.A5_E6ins14
c.13_17ins42
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