Varaico: Literature-Extracted Genetic Variants

Gene:TMEM53
Variant:p.V2fs

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
2 papers
NM_001300746.2
p.V2fs
c.4_5fs
NM_024587.4
p.V75fs
c.223_224fs
Surrounding Variants
2 papers
NM_024587.4
p.M74_V75insFs
c.222_223ins4
2 papers
NM_024587.4
p.M74_V75insFs
c.222_223ins4
1 paper
NM_024587.4
p.R67*
c.199C>T
1 paper
NM_024587.4
p.A90P
c.268G>C
1 paper
NM_001300747.2
p.K74_E75insFs
c.222_223ins4
1 paper
NM_001300747.2
p.K74_E75insFs
c.222_223ins4
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_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.V152I
c.454G>A
1 paper
NM_024587.4
p.H185H
c.555C>T
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