Varaico: Literature-Extracted Genetic Variants

CPN1

76 papers

RefSeq Summary

Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaph...

Pfam Domains

Peptidase_M14aa 31–330UCSCZinc carboxypeptidase

CarboxypepD_regaa 341–416UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

carboxypeptidase N subunit 1

HGNC Previous Names

carboxypeptidase N, polypeptide 1, 50kD; carboxypeptidase N, polypeptide 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001308.3

p.R93_E94del2

c.277_281del6

Surrounding Variants

1 paper

NM_001308.3

p.E89A

c.266A>C

1 paper

NM_001308.3

p.G87C

c.259G>T

1 paper

NM_001308.3

p.E105K

c.313G>A

1 paper

NM_001308.3

p.R108fs

c.322_323fs

1 paper

NM_001308.3

p.R108delFs

c.323delC

2 papers

NM_001308.3

p.Q119*

c.355C>T

1 paper

NM_001308.3

p.Q119K

c.355C>A

1 paper

NM_001308.3

p.T121M

c.362C>T

1 paper

NM_001308.3

p.H124Y

c.370C>T

1 paper

NM_001308.3

p.S128F

c.383C>T

1 paper

NM_001308.3

p.P131S

c.391C>T

1 paper

NM_001308.3

p.A139V

c.416C>T