Varaico: Literature-Extracted Genetic Variants

Gene:TMEM147
Variant:p.G69_E70Splc

TMEM147

20 papers

Pfam Domains

DUF2053aa 2–158UCSCPredicted membrane protein (DUF2053)
DUF2053aa 2–158UCSCPredicted membrane protein (DUF2053)

Gene Aliases

HGNC Name

transmembrane protein 147

HGNC Alias Symbols

NIFIE14; MGC1936

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032635.4
p.G69_E70Splc
c.208-1G>A
Surrounding Variants
1 paper
NM_032635.4
p.A79delFs
c.235delG
1 paper
NM_032635.4
p.A79fs
c.235_236fs
1 paper
NM_032635.4
p.G93A
c.278G>C
1 paper
NM_032635.4
p.G63V
c.188G>T
1 paper
NM_032635.4
p.F57fs
c.169_170fs
1 paper
NM_032635.4
p.F57_P58delFs
c.169_172del4
1 paper
NM_032635.4
p.S114delFs
c.340delT
1 paper
NM_032635.4
p.S114fs
c.340_341fs
1 paper
NM_032635.4
p.S114_R115del1
c.342_344delCCG
2 papers
NM_032635.4
p.R115Splc
c.344+5G>A
3 papers
NM_032635.4
p.R115Splc
c.345-1G>T
1 paper
NM_032635.4
p.W130*
c.389G>A
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