Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.F136C

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
22 papers
NM_000551.4
p.F136C
c.407T>G
Surrounding Variants
8 papers
NM_000551.4
p.F136Y
c.407T>A
46 papers
NM_000551.4
p.F136S
c.407T>C
1 paper
NM_000551.4
p.F136insFs
c.407_408insG
1 paper
NM_000551.4
p.F136Fs
c.407_408delinsGFs
2 papers
NM_000551.4
p.V137_S139delFs
c.409_415del7
10 papers
NM_000551.4
p.F136L
c.408T>A
6 papers
NM_000551.4
p.F136I
c.406T>A
10 papers
NM_000551.4
p.F136L
c.406T>C
17 papers
NM_000551.4
p.F136V
c.406T>G
10 papers
NM_000551.4
p.F136L
c.408T>G
1 paper
NM_000551.4
p.F136Fs
c.408delinsGAFs
1 paper
NM_000551.4
p.F136insFs
c.406_407insA
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