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

1–12 of 69 variants

9 papers

NM_001873.4

p.R283W

c.847C>T

5 papers

NM_001873.4

p.E26_P33delFs

c.76_98del23

4 papers

NM_001873.4

p.Y135*

c.405C>A

3 papers

NM_001873.4

p.Y135*

c.405C>G

3 papers

NM_001873.4

p.W235R

c.703T>A

3 papers

NM_001873.4

p.W235R

c.703T>C

2 papers

NM_001873.4

p.M1I

c.3G>A

2 papers

NM_001873.4

p.M1I

c.3G>T

2 papers

NM_001873.4

p.E26fs

c.76_77fs

2 papers

NM_001873.4

p.G48R

c.142G>C

2 papers

NM_001873.4

p.L243L

c.729T>C

2 papers

NM_001873.4

p.E260Q

c.778G>C