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

Selected Variant

2 papers

NM_001304.5

p.R921H

c.2762G>A

Surrounding Variants

1 paper

NM_001304.5

p.L909F

c.2725C>T

1 paper

NM_001304.5

p.T899I

c.2696C>T

1 paper

NM_001304.5

p.G945G

c.2835A>G

1 paper

NM_001304.5

p.K859N

c.2577G>C

1 paper

NM_001304.5

p.K859N

c.2577G>T

2 papers

NM_001304.5

p.R833H

c.2498G>A

6 papers

NM_001304.5

p.Y826*

c.2478C>A

6 papers

NM_001304.5

p.Y826*

c.2478C>G

1 paper

NM_001304.5

p.L810S

c.2429T>C

1 paper

NM_001304.5

p.L810I

c.2428T>A

1 paper

NM_001304.5

p.L810L

c.2428T>C

1 paper

NM_001304.5

p.L810V

c.2428T>G