Varaico: Literature-Extracted Genetic Variants

CPZ

105 papers

RefSeq Summary

This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and ...

Pfam Domains

Fzaa 43–153UCSCFz domain

Peptidase_M14aa 193–494UCSCZinc carboxypeptidase

CarboxypepD_regaa 505–582UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

carboxypeptidase Z

HGNC Alias Name

metallocarboxypeptidase Z

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003652.4

p.T318A

c.952A>G

Surrounding Variants

1 paper

NM_001014447.3

p.P326S

c.976C>T

1 paper

NM_001014447.3

p.R334Q

c.1001G>A

1 paper

NM_001014447.3

p.R323Q

c.968G>A

1 paper

NM_001014447.3

p.A336V

c.1007C>T

1 paper

NM_001014447.3

p.Q317E

c.949C>G

2 papers

NM_001014447.3

p.Q317*

c.949C>T

1 paper

NM_001014447.3

p.R313R

c.939G>A

1 paper

NM_001014447.3

p.S311_N315del5

c.931_944del15

1 paper

NM_001014447.3

p.G308R

c.922G>A

1 paper

NM_001014447.3

p.G308R

c.922G>C

1 paper

NM_001014447.3

p.H351P

c.1052A>C

1 paper

NM_001014447.3

p.V357L

c.1069G>C