Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.F119L

VHL

2,228 papers

RefSeq Summary

This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that...

Pfam Domains

VHLaa 63–116UCSCVHL beta domain
VHLaa 63–144UCSCVHL beta domain
VHL_Caa 156–204UCSCVHL box domain

Gene Aliases

HGNC Name

von Hippel-Lindau tumor suppressor

HGNC Alias Symbol

VHL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
52 papers
NM_000551.4
p.F119L
c.355T>C
Surrounding Variants
2 papers
NM_000551.4
p.F119I
c.355T>A
1 paper
NM_000551.4
p.F119V
c.355T>G
3 papers
NM_000551.4
p.F119fs
c.355_356fs
2 papers
NM_000551.4
p.F119fs
c.355_356fs
1 paper
NM_000551.4
p.F119_R120delFs
c.356_360del5
1 paper
NM_000551.4
p.F119insFs
c.356dupT
3 papers
NM_000551.4
p.L118L
c.354C>T
3 papers
NM_000551.4
p.F119delFs
c.356delT
1 paper
NM_000551.4
p.F119_R120delFs
c.355_359del5
1 paper
NM_000551.4
p.F119Y
c.356T>A
23 papers
NM_000551.4
p.F119S
c.356T>C
1 paper
NM_000551.4
p.F119C
c.356T>G
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