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.W189*

c.566G>A

Surrounding Variants

1 paper

NM_001308.3

p.W189*

c.567G>A

16 papers

NM_001308.3

p.G178D

c.533G>A

1 paper

NM_001308.3

p.N143K

c.429C>G

1 paper

NM_001308.3

p.N143K

c.429C>A

1 paper

NM_001308.3

p.E194E

c.582A>G

1 paper

NM_001308.3

p.P195L

c.584C>T

2 papers

NM_001308.3

p.P195delFs

c.585delG

1 paper

NM_001308.3

p.R202Q

c.605G>A

1 paper

NM_001308.3

p.S212L

c.635C>T

1 paper

NM_001308.3

p.K228E

c.682A>G

2 papers

NM_001308.3

p.T245M

c.734C>T

1 paper

NM_001308.3

p.K249Q

c.745A>C