Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.T414I

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.T414I
c.1241C>T
Surrounding Variants
1 paper
NM_001868.4
p.N416delFs
c.1247delA
1 paper
NM_001868.4
p.N416fs
c.1246_1247fs
1 paper
NM_001868.4
p.H417Q
c.1251C>A
1 paper
NM_001868.4
p.H417Q
c.1251C>G
1 paper
NM_001868.4
p.P418L
c.1253C>T
1 paper
NM_001868.4
p.Y419C
c.1256A>G
1 paper
NM_001868.4
p.I410_H417ins2
c.1228_1251dup24
1 paper
NM_001868.4
p.*420L
c.1259G>T
1 paper
NM_001868.4
p.L407F
c.1219C>T
1 paper
NM_001868.4
p.A406G
c.1217C>G
2 papers
NM_001868.4
p.A406V
c.1217C>T
1 paper
NM_001868.4
p.W404delFs
c.1211delG
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