Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.M54_V62delFs

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.M54_V62delFs
c.160_184del25
Surrounding Variants
1 paper
NM_000551.4
p.E53A
c.158A>C
2 papers
NM_000551.4
p.E53G
c.158A>G
2 papers
NM_000551.4
p.E53V
c.158A>T
2 papers
NM_000551.4
p.M54_R58del0
c.160_174del15
3 papers
NM_000551.4
p.E53K
c.157G>A
2 papers
NM_000551.4
p.E53E
c.159G>A
2 papers
NM_000551.4
p.E53Q
c.157G>C
2 papers
NM_000551.4
p.E53D
c.159G>C
2 papers
NM_000551.4
p.E53D
c.159G>T
1 paper
NM_000551.4
p.E53*
c.157G>T
1 paper
NM_000551.4
p.M54delFs
c.160delA
1 paper
NM_000551.4
p.E53fs
c.157_158fs
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