Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L178insFs

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.L178insFs
c.533_534insC
Surrounding Variants
24 papers
NM_000551.4
p.L178Q
c.533T>A
44 papers
NM_000551.4
p.L178P
c.533T>C
14 papers
NM_000551.4
p.L178R
c.533T>G
2 papers
NM_000551.4
p.D179insFs
c.535_536insG
1 paper
NM_000551.4
p.D179delFs
c.535delG
1 paper
NM_000551.4
p.D179_R182del4
c.535_545del12
3 papers
NM_000551.4
p.L178M
c.532C>A
6 papers
NM_000551.4
p.L178fs
c.532_533fs
4 papers
NM_000551.4
p.L178V
c.532C>G
1 paper
NM_000551.4
p.L178L
c.532C>T
3 papers
NM_000551.4
p.L178delFs
c.533delT
3 papers
NM_000551.4
p.L178delFs
c.533_534delTG
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