Varaico: Literature-Extracted Genetic Variants

Gene:SMCO3
Variant:p.T142P

SMCO3

17 papers

Pfam Domains

DUF4533aa 14–178UCSCProtein of unknown function (DUF4533)
DUF4533aa 174–221UCSCProtein of unknown function (DUF4533)

Gene Aliases

HGNC Name

single-pass membrane protein with coiled-coil domains 3

HGNC Previous Symbol

C12orf69

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001013698.2
p.T142P
c.424A>C
Surrounding Variants
1 paper
NM_001013698.2
p.V165G
c.494T>G
2 papers
NM_001013698.2
p.G181E
c.542G>A
1 paper
NM_001013698.2
p.T186insFs
c.556dupA
1 paper
NM_001013698.2
p.Q187fs
c.559_560fs
1 paper
NM_001013698.2
p.Q187delFs
c.559_560delTG
1 paper
NM_001013698.2
p.Q189E
c.565C>G
1 paper
NM_001013698.2
p.K75R
c.224A>G
2 papers
NM_001013698.2
p.N210S
c.629A>G
1 paper
NM_001013698.2
p.N210delFs
c.630delA
2 papers
NM_001013698.2
p.C49R
c.145T>C
1 paper
NM_001013698.2
p.R20H
c.59G>A
1 paper
NM_001013698.2
p.R20C
c.58C>T
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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."