Varaico: Literature-Extracted Genetic Variants

Gene:TMEM53
Variant:p.S217A

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.S217A
c.649T>G
Surrounding Variants
2 papers
NM_024587.4
p.S217L
c.650C>T
1 paper
NM_024587.4
p.E221K
c.661G>A
2 papers
NM_024587.4
p.V222_V223ins4
c.664_668ins12
2 papers
NM_024587.4
p.E212K
c.634G>A
2 papers
NM_024587.4
p.R235C
c.703C>T
2 papers
NM_024587.4
p.R235L
c.704G>T
1 paper
NM_024587.4
p.H185H
c.555C>T
1 paper
NM_001300747.2
p.H222_V223ins4
c.664_668ins12
1 paper
NM_001300748.2
p.V222_S223ins4
c.664_668ins12
1 paper
NM_024587.4
p.D258D
c.774C>T
1 paper
NM_024587.4
p.Y263N
c.787T>A
1 paper
NM_024587.4
p.R272C
c.814C>T
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