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.F133Y

c.398T>A

Surrounding Variants

1 paper

NM_001014447.3

p.A132T

c.394G>A

1 paper

NM_001014447.3

p.Q130L

c.389A>T

1 paper

NM_001014447.3

p.R126Q

c.377G>A

1 paper

NM_001014447.3

p.L125M

c.373C>A

1 paper

NM_001014448.3

p.F6del1

c.16_17delTTC

1 paper

NM_001014447.3

p.R148C

c.442C>T

1 paper

NM_001014447.3

p.R148R

c.444C>T

2 papers

NM_001014447.3

p.R115H

c.344G>A

1 paper

NM_001014447.3

p.V104fs

c.310_311fs

1 paper

NM_001014447.3

p.R165W

c.493C>T

1 paper

NM_001014447.3

p.V104_L105delFs

c.311_315del5

1 paper

NM_001014447.3

p.V84I

c.250G>A