Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.M54delFs

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.M54delFs
c.160delA
Surrounding Variants
2 papers
NM_000551.4
p.E53E
c.159G>A
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.M54delFs
c.160_161delAT
1 paper
NM_000551.4
p.M54_R58delFs
c.160_172del13
1 paper
NM_000551.4
p.M54_P59delFs
c.160_175del16
1 paper
NM_000551.4
p.M54_S65delFs
c.160_194del35
1 paper
NM_000551.4
p.M54insFs
c.160_161insG
1 paper
NM_000551.4
p.M54fs
c.160_161fs
2 papers
NM_000551.4
p.M54insFs
c.161dupT
1 paper
NM_000551.4
p.M54_A56insFs
c.161_168dup8
3 papers
NM_000551.4
p.M54L
c.160A>C
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