Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.D224N

CPA1

133 papers

RefSeq Summary

This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino ac...

Pfam Domains

Propep_M14aa 26–100UCSCCarboxypeptidase activation peptide
Peptidase_M14aa 128–406UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase A1

HGNC Previous Name

carboxypeptidase A1 (pancreatic)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001868.4
p.D224N
c.670G>A
Surrounding Variants
1 paper
NM_001868.4
p.P223P
c.669T>G
4 papers
NM_001868.4
p.G225S
c.673G>A
1 paper
NM_001868.4
p.G225D
c.674G>A
1 paper
NM_001868.4
p.N222S
c.665A>G
1 paper
NM_001868.4
p.V220I
c.658G>A
2 papers
NM_001868.4
p.I219M
c.657C>G
2 papers
NM_001868.4
p.T229M
c.686C>T
1 paper
NM_001868.4
p.L217L
c.651G>C
1 paper
NM_001868.4
p.L217Q
c.650T>A
2 papers
NM_001868.4
p.S231N
c.692G>A
1 paper
NM_001868.4
p.F216S
c.647T>C
1 paper
NM_001868.4
p.T232R
c.695C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."