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

1–12 of 47 variants

16 papers

NM_001308.3

p.G178D

c.533G>A

2 papers

NM_001308.3

p.Q119*

c.355C>T

2 papers

NM_001308.3

p.P195delFs

c.585delG

2 papers

NM_001308.3

p.T245M

c.734C>T

2 papers

NM_001308.3

p.E407K

c.1219G>A

2 papers

NM_001308.3

p.H433H

c.1299C>T

1 paper

NM_001308.3

p.S2P

c.4T>C

1 paper

NM_001308.3

p.R27H

c.80G>A

1 paper

NM_001308.3

p.D30G

c.89A>G

1 paper

NM_001308.3

p.L31_V32delFs

c.93_94delCA

1 paper

NM_001308.3

p.Y36N

c.106T>A

1 paper

NM_001308.3

p.E41K

c.121G>A