Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.W117C

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
45 papers
NM_000551.4
p.W117C
c.351G>C
Surrounding Variants
28 papers
NM_000551.4
p.W117*
c.351G>A
47 papers
NM_000551.4
p.W117C
c.351G>T
2 papers
NM_000551.4
p.L118_F119delFs
c.354_355delCT
2 papers
NM_000551.4
p.L118I
c.352C>A
1 paper
NM_000551.4
p.L118insFs
c.352_353insA
2 papers
NM_000551.4
p.L118fs
c.352_353fs
5 papers
NM_000551.4
p.L118V
c.352C>G
2 papers
NM_000551.4
p.L118F
c.352C>T
1 paper
NM_000551.4
p.L118fs
c.352_353fs
1 paper
NM_000551.4
p.L118_R120delFs
c.353_360del8
1 paper
NM_000551.4
p.L118_D126del0
c.353_376del24
29 papers
NM_000551.4
p.W117*
c.350G>A
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