Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.G212insFs

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.G212insFs
c.635_636insT
Surrounding Variants
2 papers
NM_000551.4
p.G212E
c.635G>A
2 papers
NM_000551.4
p.G212A
c.635G>C
2 papers
NM_000551.4
p.G212_D213insFs
c.636_637insA
1 paper
NM_000551.4
p.G212V
c.635G>T
1 paper
NM_000551.4
p.D213insFs
c.637_638insG
1 paper
NM_000551.4
p.G212R
c.634G>A
3 papers
NM_000551.4
p.G212R
c.634G>C
2 papers
NM_000551.4
p.G212fs
c.634_635fs
2 papers
NM_000551.4
p.M211I
c.633G>A
2 papers
NM_000551.4
p.M211I
c.633G>C
5 papers
NM_000551.4
p.D213fs
c.637_638fs
2 papers
NM_000551.4
p.D213_*214insT
c.637_641ins3
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