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.F107C

c.320T>G

Surrounding Variants

1 paper

NM_001873.4

p.I110F

c.328A>T

1 paper

NM_001873.4

p.R121*

c.361C>T

1 paper

NM_001873.4

p.A128D

c.383C>A

4 papers

NM_001873.4

p.Y135*

c.405C>A

3 papers

NM_001873.4

p.Y135*

c.405C>G

1 paper

NM_001873.4

p.R189W

c.565C>T

1 paper

NM_001873.4

p.V200M

c.598G>A

1 paper

NM_001873.4

p.N209insFs

c.625_626insTG

1 paper

NM_001873.4

p.N222S

c.665A>G

1 paper

NM_001873.4

p.K224_L225Splc

c.672+3A>G