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

1 paper

NM_001873.4

p.L43L

c.127C>T

Surrounding Variants

1 paper

NM_001873.4

p.R41W

c.121C>T

1 paper

NM_001873.4

p.G48S

c.142G>A

2 papers

NM_001873.4

p.G48R

c.142G>C

2 papers

NM_001873.4

p.E26fs

c.76_77fs

1 paper

NM_001873.4

p.E61K

c.181G>A

5 papers

NM_001873.4

p.E26_P33delFs

c.76_98del23

1 paper

NM_001873.4

p.L23V

c.67C>G

1 paper

NM_001873.4

p.L23_G31del9

c.67_92del27

1 paper

NM_001873.4

p.V64M

c.190G>A

1 paper

NM_001873.4

p.W21G

c.61T>G

1 paper

NM_001873.4

p.W67*

c.200G>A

1 paper

NM_001873.4

p.W67*

c.201G>A