Varaico: Literature-Extracted Genetic Variants

CPE

76 papers

RefSeq Summary

This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein clea...

Pfam Domains

Peptidase_M14aa 59–364UCSCZinc carboxypeptidase

CarboxypepD_regaa 375–450UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

carboxypeptidase E

HGNC Alias Names

carboxypeptidase H; enkephalin convertase; insulin granule-associated carboxypeptidase; cobalt-stimulated chromaffin granule carboxypeptidase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_001873.4

p.R283W

c.847C>T

Surrounding Variants

1 paper

NM_001873.4

p.D275A

c.824A>C

1 paper

NM_001873.4

p.H267_E268insFs

c.801_802insA

2 papers

NM_001873.4

p.H267H

c.801C>T

1 paper

NM_001873.4

p.R301_S307del7

c.901_920del21

1 paper

NM_001873.4

p.R301H

c.902G>A

1 paper

NM_001873.4

p.D306H

c.916G>C

1 paper

NM_001873.4

p.D306A

c.917A>C

1 paper

NM_001873.4

p.G324delFs

c.972delA

2 papers

NM_001873.4

p.E260A

c.779A>C

2 papers

NM_001873.4

p.E260Q

c.778G>C

1 paper

NM_001873.4

p.D259N

c.775G>A

1 paper

NM_001873.4

p.G249R

c.745G>A