Varaico: Literature-Extracted Genetic Variants

Gene:TMEM53
Variant:p.V152I

TMEM53

25 papers

Pfam Domains

DUF829aa 36–271UCSCEukaryotic protein of unknown function (DUF829)

Gene Aliases

HGNC Name

transmembrane protein 53

HGNC Alias Symbols

FLJ22353; NET4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024587.4
p.V152I
c.454G>A
Surrounding Variants
1 paper
NM_001300746.2
p.G74_D75insFs
c.222_223ins4
1 paper
NM_001300746.2
p.G74_D75insFs
c.222_223ins4
1 paper
NM_024587.4
p.H185H
c.555C>T
1 paper
NM_001300748.2
p.E74_P75insFs
c.222_223ins4
1 paper
NM_001300748.2
p.E74_P75insFs
c.222_223ins4
1 paper
NM_001300747.2
p.K74_E75insFs
c.222_223ins4
1 paper
NM_001300747.2
p.K74_E75insFs
c.222_223ins4
2 papers
NM_024587.4
p.E212K
c.634G>A
1 paper
NM_024587.4
p.A90P
c.268G>C
1 paper
NM_024587.4
p.S217A
c.649T>G
2 papers
NM_024587.4
p.S217L
c.650C>T
1 paper
NM_024587.4
p.E221K
c.661G>A
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