Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.Q202K

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.Q202K
c.604C>A
Surrounding Variants
2 papers
NM_001868.4
p.G201R
c.601G>A
2 papers
NM_001868.4
p.G201R
c.601G>C
1 paper
NM_001868.4
p.Y200*
c.600C>A
1 paper
NM_001868.4
p.Y200*
c.600C>G
1 paper
NM_001868.4
p.Y200Fs
c.599_600delinsGFs
1 paper
NM_001868.4
p.D203E
c.609T>A
1 paper
NM_001868.4
p.D203E
c.609T>G
1 paper
NM_001868.4
p.Y200N
c.598T>A
1 paper
NM_001868.4
p.D199Y
c.595G>T
1 paper
NM_001868.4
p.Q198H
c.594A>C
1 paper
NM_001868.4
p.Q198Q
c.594A>G
1 paper
NM_001868.4
p.Q198H
c.594A>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."