Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.D179G

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.D179G
c.536A>G
Surrounding Variants
1 paper
NM_000551.4
p.D179_I180ins1
c.537_538insCGC
4 papers
NM_000551.4
p.D179A
c.536A>C
1 paper
NM_000551.4
p.D179V
c.536A>T
1 paper
NM_000551.4
p.I180_L184del5
c.538_551del15
1 paper
NM_000551.4
p.D179E
c.537C>A
1 paper
NM_000551.4
p.I180insFs
c.538dupA
1 paper
NM_000551.4
p.D179E
c.537C>G
1 paper
NM_198156.3
p.D138D
c.414C>T
7 papers
NM_000551.4
p.D179N
c.535G>A
2 papers
NM_000551.4
p.D179H
c.535G>C
6 papers
NM_000551.4
p.D179fs
c.535_536fs
1 paper
NM_000551.4
p.D179delFs
c.536_537delAC
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