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.S2P

c.4T>C

Surrounding Variants

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

1 paper

NM_001308.3

p.R47W

c.139C>T

1 paper

NM_001308.3

p.I51V

c.151A>G

1 paper

NM_001308.3

p.E56*

c.166G>T

1 paper

NM_001308.3

p.R58insFs

c.173dupG

1 paper

NM_001308.3

p.G87C

c.259G>T

1 paper

NM_001308.3

p.E89A

c.266A>C

1 paper

NM_001308.3

p.R93_E94del2

c.277_281del6