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.L335L

c.1005G>A

Surrounding Variants

1 paper

NM_001308.3

p.R328L

c.983G>T

1 paper

NM_001308.3

p.W324C

c.972G>T

1 paper

NM_001308.3

p.W324C

c.972G>C

1 paper

NM_001308.3

p.E317fs

c.949_950fs

1 paper

NM_001308.3

p.F314fs

c.940_941fs

1 paper

NM_001308.3

p.K313_F314insFs

c.939_940insA

1 paper

NM_001308.3

p.C311R

c.931T>C

1 paper

NM_001308.3

p.K253_L254Splc

c.760-1G>A

1 paper

NM_001308.3

p.K249Q

c.745A>C

2 papers

NM_001308.3

p.T245M

c.734C>T

1 paper

NM_001308.3

p.K228E

c.682A>G

2 papers

NM_001308.3

p.E407K

c.1219G>A