Varaico: Literature-Extracted Genetic Variants

CPA4

58 papers

RefSeq Summary

This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that ca...

Pfam Domains

Propep_M14aa 27–101UCSCCarboxypeptidase activation peptide

Peptidase_M14aa 129–408UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase A4

HGNC Alias Name

carboxypeptidase A3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

8 papers

NM_016352.4

p.G303C

c.907G>T

5 papers

NM_016352.4

p.W259*

c.777G>A

4 papers

NM_016352.4

p.W259*

c.776G>A

2 papers

NM_016352.4

p.D24Y

c.70G>T

2 papers

NM_016352.4

p.L27F

c.81G>C

2 papers

NM_016352.4

p.L27F

c.81G>T

2 papers

NM_016352.4

p.P157T

c.469C>A

2 papers

NM_016352.4

p.R183Q

c.548G>A

2 papers

NM_016352.4

p.D270Y

c.808G>T

2 papers

NM_016352.4

p.A282T

c.844G>A

2 papers

NM_016352.4

p.R417L

c.1250G>T

1 paper

NM_016352.4

p.I7delFs

c.20_21delTT