Varaico: Literature-Extracted Genetic Variants

Gene:COPZ2

COPZ2

13 papers

RefSeq Summary

This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of C...

Pfam Domains

Clat_adaptor_saa 45–185UCSCClathrin adaptor complex small chain

Gene Aliases

HGNC Name

coat protein complex I subunit zeta 2

HGNC Alias Symbol

MGC23008

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_016429.4
p.A19insFs
c.55_56insCC
2 papers
NM_016429.4
p.G22A
c.65G>C
2 papers
NM_016429.4
p.D55_G56insCC
c.163_167ins6
1 paper
NM_016429.4
p.R9delFs
c.27delA
1 paper
NM_016429.4
p.A21T
c.61G>A
1 paper
NM_016429.4
p.G22_G23insFs
c.66_67insC
1 paper
NM_016429.4
p.G22fs
c.64_65fs
1 paper
NM_016429.4
p.G23A
c.68G>C
1 paper
NM_016429.4
p.G23fs
c.67_68fs
1 paper
NM_016429.4
p.D66_T67insC
c.196_200ins3
1 paper
NM_016429.4
p.L209F
c.627G>T
1 paper
NM_016429.4
p.L209F
c.627G>C
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