Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.A31S

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.A31S
c.91G>T
Surrounding Variants
1 paper
NM_001868.4
p.A31V
c.92C>T
1 paper
NM_001868.4
p.D32H
c.94G>C
1 paper
NM_001868.4
p.A34V
c.101C>T
2 papers
NM_001868.4
p.R27Q
c.80G>A
2 papers
NM_001868.4
p.R27P
c.80G>C
7 papers
NM_001868.4
p.R27*
c.79C>T
1 paper
NM_001868.4
p.H23_Q24insFs
c.69_70ins4
1 paper
NM_001868.4
p.H23R
c.68A>G
1 paper
NM_001868.4
p.V39A
c.116T>C
1 paper
NM_001868.4
p.E41E
c.123G>A
1 paper
NM_001868.4
p.E43D
c.129G>C
1 paper
NM_001868.4
p.E43D
c.129G>T
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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."