Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.F136L

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
10 papers
NM_000551.4
p.F136L
c.408T>A
Surrounding Variants
10 papers
NM_000551.4
p.F136L
c.408T>G
1 paper
NM_000551.4
p.F136Fs
c.408delinsGAFs
7 papers
NM_000551.4
p.V137delFs
c.409delG
3 papers
NM_000551.4
p.V137M
c.409G>A
2 papers
NM_000551.4
p.V137L
c.409G>C
6 papers
NM_000551.4
p.V137fs
c.409_410fs
2 papers
NM_000551.4
p.V137L
c.409G>T
4 papers
NM_000551.4
p.V137fs
c.409_410fs
1 paper
NM_000551.4
p.P138_D143delFs
c.412_427del16
8 papers
NM_000551.4
p.F136Y
c.407T>A
46 papers
NM_000551.4
p.F136S
c.407T>C
22 papers
NM_000551.4
p.F136C
c.407T>G
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