Varaico: Literature-Extracted Genetic Variants

Gene:COPZ1
Variant:p.M118I

COPZ1

19 papers

RefSeq Summary

This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subuni...

Pfam Domains

Clat_adaptor_saa 12–153UCSCClathrin adaptor complex small chain

Gene Aliases

HGNC Name

coat protein complex I subunit zeta 1

HGNC Alias Symbol

CGI-120

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016057.3
p.M118I
c.354G>A
Surrounding Variants
1 paper
NM_016057.3
p.M118I
c.354G>C
1 paper
NM_016057.3
p.M118I
c.354G>T
1 paper
NM_016057.3
p.E119K
c.355G>A
1 paper
NM_016057.3
p.D126G
c.377A>G
1 paper
NM_016057.3
p.G132R
c.394G>A
1 paper
NM_016057.3
p.G132R
c.394G>C
1 paper
NM_016057.3
p.G132Splc
c.395+1G>A
1 paper
NM_016057.3
p.V133A
c.398T>C
1 paper
NM_016057.3
p.Q141*
c.421C>T
1 paper
NM_016057.3
p.L148*
c.443T>A
1 paper
NM_016057.3
p.L148*
c.443T>G
1 paper
NM_016057.3
p.E151*
c.451G>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."