Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S139insFs

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.S139insFs
c.416_417insCC
Surrounding Variants
2 papers
NM_000551.4
p.S139T
c.415T>A
2 papers
NM_000551.4
p.S139P
c.415T>C
1 paper
NM_000551.4
p.S139A
c.415T>G
3 papers
NM_000551.4
p.S139insFs
c.416dupC
4 papers
NM_000551.4
p.S139fs
c.415_416fs
1 paper
NM_000551.4
p.S139delFs
c.416delC
2 papers
NM_000551.4
p.S139fs
c.415_416fs
1 paper
NM_000551.4
p.S139_N141delins
c.415_421delinsAACCCTA
1 paper
NM_000551.4
p.S139_L140Fs
c.415_420delinsAACCCTAFs
18 papers
NM_000551.4
p.P138P
c.414A>G
2 papers
NM_000551.4
p.S139delFs
c.415delT
3 papers
NM_000551.4
p.L140delFs
c.419_420delTC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."