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_001014447.3

p.S608N

c.1823G>A

Surrounding Variants

1 paper

NM_001014447.3

p.E612delFs

c.1834delG

1 paper

NM_001014447.3

p.G605R

c.1813G>A

1 paper

NM_001014447.3

p.G605R

c.1813G>C

1 paper

NM_001014447.3

p.E612fs

c.1834_1835fs

1 paper

NM_001014447.3

p.L604L

c.1810C>T

1 paper

NM_001014447.3

p.P603P

c.1809A>G

1 paper

NM_001014447.3

p.P618P

c.1854G>A

1 paper

NM_001014447.3

p.R622C

c.1864C>T

1 paper

NM_001014447.3

p.H593N

c.1777C>A

1 paper

NM_001014447.3

p.H593Y

c.1777C>T

1 paper

NM_003652.4

p.R565H

c.1694G>A

2 papers

NM_001014447.3

p.K572*

c.1714A>T