Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.I289T

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.I289T
c.866T>C
Surrounding Variants
1 paper
NM_001868.4
p.S288F
c.863C>T
1 paper
NM_001868.4
p.D291N
c.871G>A
1 paper
NM_001868.4
p.K287E
c.859A>G
1 paper
NM_001868.4
p.V293G
c.878T>G
1 paper
NM_001868.4
p.D295E
c.885C>A
1 paper
NM_001868.4
p.D295E
c.885C>G
3 papers
NM_001868.4
p.E283K
c.847G>A
1 paper
NM_001868.4
p.H296D
c.886C>G
1 paper
NM_001868.4
p.H296Y
c.886C>T
17 papers
NM_001868.4
p.S282P
c.844T>C
1 paper
NM_001868.4
p.G297G
c.891G>A
2 papers
NM_001868.4
p.A280D
c.839C>A
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