Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P138delFs

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.P138delFs
c.413delC
Surrounding Variants
1 paper
NM_000551.4
p.P138insFs
c.413dupC
1 paper
NM_000551.4
p.P138_V142delFs
c.412_425del14
9 papers
NM_000551.4
p.P138T
c.412C>A
1 paper
NM_000551.4
p.P138insFs
c.412_413ins8
2 papers
NM_000551.4
p.P138fs
c.412_413fs
2 papers
NM_000551.4
p.P138A
c.412C>G
2 papers
NM_000551.4
p.P138S
c.412C>T
1 paper
NM_000551.4
p.P138delFs
c.413_414delCA
3 papers
NM_000551.4
p.P138fs
c.412_413fs
1 paper
NM_000551.4
p.V137E
c.410T>A
2 papers
NM_000551.4
p.V137A
c.410T>C
1 paper
NM_000551.4
p.V137G
c.410T>G
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