Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.G114Splc

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.G114Splc
c.340+2T>A
Surrounding Variants
3 papers
NM_000551.4
p.G114Splc
c.340+2T>C
7 papers
NM_000551.4
p.G114Splc
c.340+2T>G
1 paper
NM_000551.4
p.G114Splc
c.340+3A>C
2 papers
NM_000551.4
p.G114Splc
c.340+3A>G
1 paper
NM_000551.4
p.G114Splc
c.340+3A>T
38 papers
NM_000551.4
p.G114D
c.341G>A
13 papers
NM_000551.4
p.G114A
c.341G>C
16 papers
NM_000551.4
p.G114Splc
c.340+1G>T
1 paper
NM_000551.4
p.G114Splc
c.340+4C>A
1 paper
NM_000551.4
p.G114Splc
c.340+4C>G
2 papers
NM_000551.4
p.G114Splc
c.340+4C>T
22 papers
NM_000551.4
p.G114S
c.340G>A
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