Varaico: Literature-Extracted Genetic Variants

Gene:VHLL

VHLL

79 papers

RefSeq Summary

Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription f...

Pfam Domains

VHLaa 45–126UCSCVHL beta domain

Gene Aliases

HGNC Name

VHL like

HGNC Previous Symbol

VHLP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
3 papers
NM_001004319.3
p.F89Y
c.266T>A
2 papers
NM_001004319.3
p.E35K
c.103G>A
2 papers
NM_001004319.3
p.V44V
c.132G>A
1 paper
NM_001004319.3
p.M1V
c.1A>G
1 paper
NM_001004319.3
p.G10D
c.29G>A
1 paper
NM_001004319.3
p.Q14R
c.41A>G
1 paper
NM_001004319.3
p.A15A
c.45G>A
1 paper
NM_001004319.3
p.Q18L
c.53A>T
1 paper
NM_001004319.3
p.E19A
c.56A>C
1 paper
NM_001004319.3
p.E23D
c.69A>T
1 paper
NM_001004319.3
p.E24A
c.71A>C
1 paper
NM_001004319.3
p.Y25*
c.75C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."