Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.S267R

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.S267R
c.801C>G
Surrounding Variants
1 paper
NM_001868.4
p.S267R
c.801C>A
1 paper
NM_001868.4
p.S267T
c.800G>C
1 paper
NM_001868.4
p.S267R
c.799A>C
2 papers
NM_001868.4
p.S268N
c.803G>A
1 paper
NM_001868.4
p.A266A
c.798C>G
1 paper
NM_001868.4
p.P270A
c.808C>G
3 papers
NM_001868.4
p.P270R
c.809C>G
1 paper
NM_001868.4
p.S264S
c.792C>G
1 paper
NM_001868.4
p.S264C
c.791C>G
4 papers
NM_001868.4
p.C271R
c.811T>C
1 paper
NM_001868.4
p.C271G
c.811T>G
1 paper
NM_001868.4
p.C271W
c.813C>G
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