Varaico: Literature-Extracted Genetic Variants

Gene:VHLL
Variant:p.Y25*

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
Selected Variant
1 paper
NM_001004319.3
p.Y25*
c.75C>A
Surrounding Variants
1 paper
NM_001004319.3
p.E24A
c.71A>C
1 paper
NM_001004319.3
p.E23D
c.69A>T
1 paper
NM_001004319.3
p.E29E
c.87G>A
1 paper
NM_001004319.3
p.G31D
c.92G>A
1 paper
NM_001004319.3
p.E19A
c.56A>C
1 paper
NM_001004319.3
p.E33K
c.97G>A
1 paper
NM_001004319.3
p.Q18L
c.53A>T
2 papers
NM_001004319.3
p.E35K
c.103G>A
1 paper
NM_001004319.3
p.E35V
c.104A>T
1 paper
NM_001004319.3
p.A15A
c.45G>A
1 paper
NM_001004319.3
p.Q14R
c.41A>G
1 paper
NM_001004319.3
p.G10D
c.29G>A
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