Varaico: Literature-Extracted Genetic Variants

CPD

165 papers

RefSeq Summary

The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies....

Pfam Domains

Peptidase_M14aa 65–372UCSCZinc carboxypeptidase

CarboxypepD_regaa 383–460UCSCCarboxypeptidase regulatory-like domain

Peptidase_M14aa 509–784UCSCZinc carboxypeptidase

CarboxypepD_regaa 795–871UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

carboxypeptidase D

HGNC Alias Symbol

GP180

Papers

RefSeq ID

Protein change

DNA change

1–12 of 128 variants

6 papers

NM_001304.5

p.Y826*

c.2478C>A

6 papers

NM_001304.5

p.Y826*

c.2478C>G

3 papers

NM_001304.5

p.P425R

c.1274C>G

2 papers

NM_001304.5

p.M1I

c.3G>A

2 papers

NM_001304.5

p.G4G

c.12C>T

2 papers

NM_001304.5

p.A39V

c.116C>T

2 papers

NM_001304.5

p.R370H

c.1109G>A

2 papers

NM_001304.5

p.R525W

c.1573C>T

2 papers

NM_001304.5

p.R833H

c.2498G>A

2 papers

NM_001304.5

p.R921H

c.2762G>A

1 paper

NM_001304.5

p.M1I

c.3G>T

1 paper

NM_001304.5

p.G4R

c.10G>C