Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E46_R60delFs

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.E46_R60delFs
c.136_178del43
Surrounding Variants
3 papers
NM_000551.4
p.P45P
c.135G>A
1 paper
NM_000551.4
p.P45P
c.135G>T
2 papers
NM_000551.4
p.P45Q
c.134C>A
4 papers
NM_000551.4
p.P45R
c.134C>G
9 papers
NM_000551.4
p.P45L
c.134C>T
2 papers
NM_000551.4
p.E46K
c.136G>A
2 papers
NM_000551.4
p.E46Q
c.136G>C
1 paper
NM_000551.4
p.E46fs
c.136_137fs
8 papers
NM_000551.4
p.E46*
c.136G>T
1 paper
NM_000551.4
p.E46A
c.137A>C
1 paper
NM_000551.4
p.E46G
c.137A>G
2 papers
NM_000551.4
p.E46V
c.137A>T
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