Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.Y318_K319delFs

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
2 papers
NM_001868.4
p.Y318_K319delFs
c.954_955delCA
Surrounding Variants
4 papers
NM_001868.4
p.Y318*
c.954C>A
4 papers
NM_001868.4
p.Y318*
c.954C>G
1 paper
NM_001868.4
p.T320R
c.959C>G
2 papers
NM_001868.4
p.Y314C
c.941A>G
1 paper
NM_001868.4
p.M313K
c.938T>A
1 paper
NM_001868.4
p.M313R
c.938T>G
1 paper
NM_001868.4
p.L311P
c.932T>C
1 paper
NM_001868.4
p.Q310H
c.930G>C
1 paper
NM_001868.4
p.Q310H
c.930G>T
1 paper
NM_001868.4
p.Q326K
c.976C>A
1 paper
NM_001868.4
p.Q326*
c.976C>T
1 paper
NM_001868.4
p.S309P
c.925T>C
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