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

2 papers

NM_001014447.3

p.R284C

c.850C>T

Surrounding Variants

1 paper

NM_001014447.3

p.R275R

c.825C>T

1 paper

NM_001014447.3

p.P293S

c.877C>T

1 paper

NM_001014447.3

p.P293L

c.878C>T

1 paper

NM_001014447.3

p.E297K

c.889G>A

1 paper

NM_001014447.3

p.Q263R

c.788A>G

1 paper

NM_001014447.3

p.Y260*

c.780C>A

1 paper

NM_001014447.3

p.Y260*

c.780C>G

1 paper

NM_001014447.3

p.I259L

c.775A>C

1 paper

NM_001014447.3

p.G245D

c.734G>A

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.S311_N315del5

c.931_944del15