Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.D64_V65delFs

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.D64_V65delFs
c.190_193del4
Surrounding Variants
2 papers
NM_001868.4
p.R66Q
c.197G>A
3 papers
NM_001868.4
p.G60G
c.180C>T
1 paper
NM_001868.4
p.G55A
c.164G>C
1 paper
NM_001868.4
p.F52L
c.156C>A
1 paper
NM_001868.4
p.F52L
c.156C>G
1 paper
NM_001868.4
p.F52L
c.154T>C
1 paper
NM_001868.4
p.K76R
c.227A>G
1 paper
NM_001868.4
p.D51N
c.151G>A
1 paper
NM_001868.4
p.L50fs
c.148_149fs
2 papers
NM_001868.4
p.Q49_L50Splc
c.148-1G>A
2 papers
NM_001868.4
p.S81P
c.241T>C
1 paper
NM_001868.4
p.V93M
c.277G>A
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