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.V64M

c.190G>A

Surrounding Variants

1 paper

NM_001873.4

p.E61K

c.181G>A

1 paper

NM_001873.4

p.W67*

c.200G>A

1 paper

NM_001873.4

p.W67*

c.201G>A

1 paper

NM_001873.4

p.L68M

c.202C>A

1 paper

NM_001873.4

p.G48S

c.142G>A

2 papers

NM_001873.4

p.G48R

c.142G>C

1 paper

NM_001873.4

p.R81C

c.241C>T

1 paper

NM_001873.4

p.L43L

c.127C>T

1 paper

NM_001873.4

p.R41W

c.121C>T

1 paper

NM_001873.4

p.N96D

c.286A>G

1 paper

NM_001873.4

p.E101_G103delFs

c.301_307del7

2 papers

NM_001873.4

p.E26fs

c.76_77fs