Varaico: Literature-Extracted Genetic Variants

Gene:TMEM147

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
1–12 of 34 variants
3 papers
NM_032635.4
p.G7R
c.19G>A
3 papers
NM_032635.4
p.G7R
c.19G>C
3 papers
NM_032635.4
p.K34_V40delFs
c.100_118del19
3 papers
NM_032635.4
p.K34fs
c.100_101fs
3 papers
NM_032635.4
p.R115Splc
c.345-1G>T
2 papers
NM_032635.4
p.R115Splc
c.344+5G>A
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.T2delins
c.4delinsATGT
1 paper
NM_032635.4
p.Y21*
c.63C>A
1 paper
NM_032635.4
p.Y21*
c.63C>G
1 paper
NM_032635.4
p.F32I
c.94T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."