Varaico: Literature-Extracted Genetic Variants

Gene:TMEM53
Variant:p.K21Splc

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_024587.4
p.K21Splc
c.62-2A>G
Surrounding Variants
1 paper
NM_024587.4
p.K21fs
c.61_62fs
1 paper
NM_024587.4
p.N22fs
c.64_65fs
1 paper
NM_024587.4
p.A56A
c.168C>T
1 paper
NM_024587.4
p.H59Q
c.177C>G
1 paper
NM_024587.4
p.H59Q
c.177C>A
1 paper
NM_024587.4
p.Y58_R61del4
c.172_182del12
1 paper
NM_024587.4
p.R61_G62Splc
c.183+96C>T
1 paper
NM_024587.4
p.R67*
c.199C>T
2 papers
NM_024587.4
p.M74_V75insFs
c.222_223ins4
2 papers
NM_024587.4
p.M74_V75insFs
c.222_223ins4
2 papers
NM_001300746.2
p.V2fs
c.4_5fs
NM_024587.4
p.V75fs
c.223_224fs
1 paper
NM_024587.4
p.A90P
c.268G>C
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