Varaico: Literature-Extracted Genetic Variants

Gene:VHLL
Variant:p.L77P

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.L77P
c.230T>C
Surrounding Variants
1 paper
NM_001004319.3
p.Y80F
c.239A>T
1 paper
NM_001004319.3
p.L81V
c.241C>G
1 paper
NM_001004319.3
p.L83V
c.247C>G
1 paper
NM_001004319.3
p.P85T
c.253C>A
1 paper
NM_001004319.3
p.G86Fs
c.256_258delinsGFs
1 paper
NM_001004319.3
p.V66M
c.196G>A
3 papers
NM_001004319.3
p.F89Y
c.266T>A
1 paper
NM_001004319.3
p.F89L
c.267C>A
1 paper
NM_001004319.3
p.R64P
c.191G>C
1 paper
NM_001004319.3
p.R90R
c.270C>A
1 paper
NM_001004319.3
p.S62N
c.185G>A
1 paper
NM_001004319.3
p.R95Q
c.284G>A
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