Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.A208S

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.A208S
c.622G>T
Surrounding Variants
8 papers
NM_001868.4
p.A208T
c.622G>A
1 paper
NM_001868.4
p.I209L
c.625A>C
1 paper
NM_001868.4
p.I209F
c.625A>T
2 papers
NM_001868.4
p.I209M
c.627T>G
1 paper
NM_001868.4
p.D211N
c.631G>A
1 paper
NM_001868.4
p.T212S
c.634A>T
1 paper
NM_001868.4
p.T212S
c.635C>G
1 paper
NM_001868.4
p.D203E
c.609T>A
1 paper
NM_001868.4
p.D203E
c.609T>G
2 papers
NM_001868.4
p.Q202K
c.604C>A
2 papers
NM_001868.4
p.D214N
c.640G>A
1 paper
NM_001868.4
p.D214Y
c.640G>T
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