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.K36E

c.106A>G

Surrounding Variants

2 papers

NM_001304.5

p.A39V

c.116C>T

1 paper

NM_001304.5

p.T43P

c.127A>C

1 paper

NM_001304.5

p.A46T

c.136G>A

1 paper

NM_001304.5

p.A48A

c.144C>T

1 paper

NM_001304.5

p.E49V

c.146A>T

1 paper

NM_001304.5

p.A50T

c.148G>A

1 paper

NM_001304.5

p.A50V

c.149C>T

1 paper

NM_001304.5

p.L19F

c.55C>T

1 paper

NM_001304.5

p.L16V

c.46C>G

1 paper

NM_001304.5

p.Y59N

c.175T>A

1 paper

NM_001304.5

p.E65Q

c.193G>C

1 paper

NM_001304.5

p.E65A

c.194A>C