Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.D213G

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
4 papers
NM_000551.4
p.D213G
c.638A>G
Surrounding Variants
3 papers
NM_000551.4
p.D213insFs
c.638_639insT
5 papers
NM_000551.4
p.D213fs
c.637_638fs
2 papers
NM_000551.4
p.D213_*214insT
c.637_641ins3
2 papers
NM_000551.4
p.D213E
c.639T>A
1 paper
NM_000551.4
p.D213D
c.639T>C
2 papers
NM_000551.4
p.D213E
c.639T>G
1 paper
NM_000551.4
p.*214del1
c.640_641delTGA
1 paper
NM_000551.4
p.D213insFs
c.637_638insG
4 papers
NM_000551.4
p.*214R
c.640T>A
1 paper
NM_000551.4
p.*214R
c.640T>C
8 papers
NM_000551.4
p.*214G
c.640T>G
1 paper
NM_000551.4
p.*214fs
c.640_641fs
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