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.R525W

c.1573C>T

Surrounding Variants

1 paper

NM_001304.5

p.H505N

c.1513C>A

1 paper

NM_001304.5

p.I496_K499del0

c.1487_1495del9

1 paper

NM_001304.5

p.T470R

c.1409C>G

1 paper

NM_001304.5

p.E454G

c.1361A>G

1 paper

NM_001304.5

p.E556*

c.1666G>T

1 paper

NM_001304.5

p.G561V

c.1682G>T

1 paper

NM_001304.5

p.M563R

c.1688T>G

1 paper

NM_001304.5

p.L574_K583del0

c.1722_1748del27

1 paper

NM_001304.5

p.I578T

c.1733T>C

1 paper

NM_001304.5

p.K583R

c.1748A>G

1 paper

NM_001304.5

p.G586E

c.1757G>A

1 paper

NM_001304.5

p.T587K

c.1760C>A