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.L10V

c.28C>G

Surrounding Variants

1 paper

NM_001014447.3

p.L10I

c.28C>A

1 paper

NM_001014447.3

p.T11A

c.31A>G

1 paper

NM_001014447.3

p.V12_V14del3

c.34_41del9

1 paper

NM_001014447.3

p.P4_L5del1

c.12_14delGCT

1 paper

NM_001014447.3

p.P4_L5del2

c.10_14del6

1 paper

NM_001014447.3

p.P2delFs

c.4_5delCC

3 papers

NM_001014447.3

p.R19P

c.56G>C

1 paper

NM_001014447.3

p.P20P

c.60G>T

1 paper

NM_001014447.3

p.A29insFs

c.86dupC

1 paper

NM_001014447.3

p.A29fs

c.85_86fs

1 paper

NM_001014447.3

p.P62S

c.184C>T

1 paper

NM_001014447.3

p.N63I

c.188A>T