Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.N78T

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
21 papers
NM_000551.4
p.N78T
c.233A>C
Surrounding Variants
2 papers
NM_000551.4
p.N78insFs
c.234dupT
132 papers
NM_000551.4
p.N78S
c.233A>G
20 papers
NM_000551.4
p.N78I
c.233A>T
2 papers
NM_000551.4
p.N78delFs
c.234delT
1 paper
NM_000551.4
p.N78_R79delFs
c.234_237del4
7 papers
NM_000551.4
p.R79_P81del0
c.236_241del6
1 paper
NM_000551.4
p.N78_R79insFs
c.234_235ins5
4 papers
NM_000551.4
p.N78fs
c.232_233fs
25 papers
NM_000551.4
p.N78H
c.232A>C
23 papers
NM_000551.4
p.N78D
c.232A>G
26 papers
NM_000551.4
p.N78Y
c.232A>T
1 paper
NM_000551.4
p.N78delins
c.232_233delinsTT
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