Varaico: Literature-Extracted Genetic Variants

Gene:VHLL
Variant:p.S54C

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.S54C
c.161C>G
Surrounding Variants
1 paper
NM_001004319.3
p.R55Q
c.164G>A
1 paper
NM_001004319.3
p.R46L
c.137G>T
1 paper
NM_001004319.3
p.S62N
c.185G>A
1 paper
NM_001004319.3
p.V44V
c.132G>T
2 papers
NM_001004319.3
p.V44V
c.132G>A
1 paper
NM_001004319.3
p.R64P
c.191G>C
1 paper
NM_001004319.3
p.V66M
c.196G>A
1 paper
NM_001004319.3
p.A41G
c.122C>G
1 paper
NM_001004319.3
p.E35V
c.104A>T
2 papers
NM_001004319.3
p.E35K
c.103G>A
1 paper
NM_001004319.3
p.E33K
c.97G>A
1 paper
NM_001004319.3
p.L77P
c.230T>C
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