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.R504Q

c.1511G>A

Surrounding Variants

1 paper

NM_001014447.3

p.K507R

c.1520A>G

1 paper

NM_001014447.3

p.T501_V502Splc

c.1504-3C>T

2 papers

NM_001014447.3

p.V510M

c.1528G>A

1 paper

NM_001014447.3

p.R522W

c.1564C>T

1 paper

NM_001014447.3

p.G527C

c.1579G>T

1 paper

NM_001014447.3

p.G538C

c.1612G>T

1 paper

NM_001014447.3

p.L544L

c.1632G>A

1 paper

NM_001014447.3

p.A569T

c.1705G>A

1 paper

NM_001014447.3

p.R570Q

c.1709G>A

2 papers

NM_001014447.3

p.K572*

c.1714A>T

1 paper

NM_003652.4

p.R565H

c.1694G>A

1 paper

NM_001014447.3

p.H593N

c.1777C>A