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

3 papers

NM_001873.4

p.W235R

c.703T>C

Surrounding Variants

3 papers

NM_001873.4

p.W235R

c.703T>A

1 paper

NM_001873.4

p.M237I

c.711G>A

1 paper

NM_001873.4

p.M237I

c.711G>C

1 paper

NM_001873.4

p.M237I

c.711G>T

1 paper

NM_001873.4

p.E228delFs

c.682delG

2 papers

NM_001873.4

p.L243L

c.729T>C

1 paper

NM_001873.4

p.S244P

c.730T>C

1 paper

NM_001873.4

p.G249R

c.745G>A

1 paper

NM_001873.4

p.G249R

c.745G>C

1 paper

NM_001873.4

p.D259N

c.775G>A

2 papers

NM_001873.4

p.E260Q

c.778G>C

2 papers

NM_001873.4

p.E260A

c.779A>C