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

1 paper

NM_001304.5

p.I809V

c.2425A>G

Surrounding Variants

1 paper

NM_001304.5

p.G808G

c.2424T>C

1 paper

NM_001304.5

p.G808V

c.2423G>T

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

1 paper

NM_001304.5

p.L810S

c.2429T>C

6 papers

NM_001304.5

p.Y826*

c.2478C>A

6 papers

NM_001304.5

p.Y826*

c.2478C>G

2 papers

NM_001304.5

p.R833H

c.2498G>A

1 paper

NM_001304.5

p.Q791R

c.2372A>G

1 paper

NM_001304.5

p.L763P

c.2288T>C

1 paper

NM_001304.5

p.E762Q

c.2284G>C