Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L188delFs

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
2 papers
NM_000551.4
p.L188delFs
c.562delC
Surrounding Variants
2 papers
NM_000551.4
p.D187E
c.561T>A
1 paper
NM_000551.4
p.D187D
c.561T>C
2 papers
NM_000551.4
p.D187E
c.561T>G
1 paper
NM_000551.4
p.L188_L201del14
c.562_602del42
1 paper
NM_000551.4
p.D187V
c.560A>T
1 paper
NM_000551.4
p.L188delFs
c.562_563delCT
3 papers
NM_000551.4
p.L188fs
c.562_563fs
3 papers
NM_000551.4
p.L188insFs
c.563dupT
170 papers
NM_000551.4
p.L188V
c.562C>G
2 papers
NM_000551.4
p.L188fs
c.562_563fs
2 papers
NM_000551.4
p.D187N
c.559G>A
3 papers
NM_000551.4
p.D187fs
c.559_560fs
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