Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L184V

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
1 paper
NM_000551.4
p.L184V
c.550C>G
Surrounding Variants
1 paper
NM_000551.4
p.L184I
c.550C>A
3 papers
NM_000551.4
p.L184fs
c.550_551fs
1 paper
NM_000551.4
p.L184insFs
c.551dupT
5 papers
NM_000551.4
p.L184F
c.550C>T
1 paper
NM_000551.4
p.L184delFs
c.551delT
1 paper
NM_000551.4
p.Y185_L188delFs
c.554_563del10
1 paper
NM_000551.4
p.S183S
c.549G>T
1 paper
NM_000551.4
p.L184delFs
c.550delC
1 paper
NM_000551.4
p.L184_Y185delFs
c.552_553delCT
1 paper
NM_000551.4
p.L184_D187del4
c.550_560del12
10 papers
NM_000551.4
p.L184H
c.551T>A
34 papers
NM_000551.4
p.L184P
c.551T>C
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