Varaico: Literature-Extracted Genetic Variants

Gene:TMEM147
Variant:p.I133N

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.I133N
c.398T>A
Surrounding Variants
1 paper
NM_032635.4
p.W130*
c.390G>A
1 paper
NM_032635.4
p.W130*
c.389G>A
3 papers
NM_032635.4
p.R115Splc
c.345-1G>T
1 paper
NM_032635.4
p.L143_V144Splc
c.430-1G>A
1 paper
NM_032635.4
p.Y162H
c.484T>C
2 papers
NM_032635.4
p.Y162*
c.486C>A
2 papers
NM_032635.4
p.Y162*
c.486C>G
2 papers
NM_032635.4
p.R115Splc
c.344+5G>A
1 paper
NM_032635.4
p.R166W
c.496C>T
1 paper
NM_032635.4
p.S114_R115del1
c.342_344delCCG
1 paper
NM_032635.4
p.S114fs
c.340_341fs
1 paper
NM_032635.4
p.S114delFs
c.340delT
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