Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V130L

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
58 papers
NM_000551.4
p.V130L
c.388G>C
Surrounding Variants
15 papers
NM_000551.4
p.V130I
c.388G>A
2 papers
NM_000551.4
p.V130fs
c.388_389fs
5 papers
NM_000551.4
p.V130insFs
c.390dupT
1 paper
NM_000551.4
p.V130insFs
c.389_390ins4
1 paper
NM_000551.4
p.V130_T133ins1
c.389_397dup9
31 papers
NM_000551.4
p.V130F
c.388G>T
6 papers
NM_000551.4
p.V130delFs
c.390delT
1 paper
NM_000551.4
p.V130fs
c.388_389fs
1 paper
NM_000551.4
p.V130_N131delFs
c.389_392del4
3 papers
NM_000551.4
p.L129L
c.387G>A
2 papers
NM_000551.4
p.L129L
c.387G>T
1 paper
NM_000551.4
p.L129_V130delins
c.387_388delinsAT
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