Varaico: Literature-Extracted Genetic Variants

Gene:TMEM147
Variant:p.Y162H

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.Y162H
c.484T>C
Surrounding Variants
2 papers
NM_032635.4
p.Y162*
c.486C>A
2 papers
NM_032635.4
p.Y162*
c.486C>G
1 paper
NM_032635.4
p.R166W
c.496C>T
1 paper
NM_032635.4
p.V169_L172del4
c.505_515del12
1 paper
NM_032635.4
p.A180_F181insFs
c.540_543dup4
1 paper
NM_032635.4
p.L143_V144Splc
c.430-1G>A
1 paper
NM_032635.4
p.V182fs
c.544_545fs
1 paper
NM_001242597.2
p.V133D
c.398T>A
1 paper
NM_032635.4
p.I133N
c.398T>A
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
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