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

2 papers

NM_001873.4

p.M1I

c.3G>T

Surrounding Variants

2 papers

NM_001873.4

p.M1I

c.3G>A

1 paper

NM_001873.4

p.M1I

c.3G>C

1 paper

NM_001873.4

p.M1R

c.2T>G

1 paper

NM_001873.4

p.G3G

c.9G>A

1 paper

NM_001873.4

p.G6G

c.18C>G

1 paper

NM_001873.4

p.A8_A11del0

c.23_31del9

1 paper

NM_001873.4

p.W21G

c.61T>G

1 paper

NM_001873.4

p.L23_G31del9

c.67_92del27

1 paper

NM_001873.4

p.L23V

c.67C>G

5 papers

NM_001873.4

p.E26_P33delFs

c.76_98del23

2 papers

NM_001873.4

p.E26fs

c.76_77fs

1 paper

NM_001873.4

p.R41W

c.121C>T