Varaico: Literature-Extracted Genetic Variants

Gene:VHLL
Variant:p.L117W

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.L117W
c.350T>G
Surrounding Variants
1 paper
NM_001004319.3
p.V119M
c.355G>A
1 paper
NM_001004319.3
p.V119V
c.357G>A
1 paper
NM_001004319.3
p.P120S
c.358C>T
1 paper
NM_001004319.3
p.R105_L110delFs
c.315_330del16
1 paper
NM_001004319.3
p.P128S
c.382C>T
1 paper
NM_001004319.3
p.R105K
c.314G>A
1 paper
NM_001004319.3
p.A104E
c.311C>A
1 paper
NM_001004319.3
p.A104S
c.310G>T
1 paper
NM_001004319.3
p.A104T
c.310G>A
1 paper
NM_001004319.3
p.A131S
c.391G>T
1 paper
NM_001004319.3
p.L100F
c.298C>T
1 paper
NM_001004319.3
p.I138M
c.414A>G
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