Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.V62_S65Fs

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.V62_S65Fs
c.185_193delinsGCFs
Surrounding Variants
3 papers
NM_000551.4
p.V62E
c.185T>A
2 papers
NM_000551.4
p.V62A
c.185T>C
3 papers
NM_000551.4
p.V62G
c.185T>G
1 paper
NM_000551.4
p.L63_S65delFs
c.189_193del5
1 paper
NM_000551.4
p.V62_N67delFs
c.186_199del14
1 paper
NM_000551.4
p.V62_S72Fs
c.185_214delinsGFs
5 papers
NM_000551.4
p.V62M
c.184G>A
1 paper
NM_000551.4
p.V62V
c.186G>A
3 papers
NM_000551.4
p.V62L
c.184G>C
1 paper
NM_000551.4
p.V62V
c.186G>C
2 papers
NM_000551.4
p.L63insFs
c.187_188insC
10 papers
NM_000551.4
p.V62fs
c.184_185fs
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