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.E365K

c.1093G>A

Surrounding Variants

2 papers

NM_001304.5

p.R370H

c.1109G>A

1 paper

NM_001304.5

p.P357L

c.1070C>T

1 paper

NM_001304.5

p.L376S

c.1127T>C

1 paper

NM_001304.5

p.E350Q

c.1048G>C

1 paper

NM_001304.5

p.G333A

c.998G>C

1 paper

NM_001304.5

p.G332Splc

c.995-2A>G

1 paper

NM_001304.5

p.H381D

c.1141C>G

1 paper

NM_001304.5

p.G383V

c.1148G>T

1 paper

NM_001304.5

p.T401I

c.1202C>T

1 paper

NM_001304.5

p.T412delFs

c.1234delA

1 paper

NM_001304.5

p.R415*

c.1243A>T

1 paper

NM_001304.5

p.R415T

c.1244G>C