Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.S246F

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.S246F
c.737C>T
Surrounding Variants
6 papers
NM_001868.4
p.S246_N254del0
c.738_761del24
1 paper
NM_001868.4
p.L247I
c.739C>A
2 papers
NM_001868.4
p.G250A
c.749G>C
1 paper
NM_001868.4
p.G250G
c.750C>T
8 papers
NM_001868.4
p.V251M
c.751G>A
1 paper
NM_001868.4
p.S241C
c.722C>G
1 paper
NM_001868.4
p.V251A
c.752T>C
1 paper
NM_001868.4
p.V251_D252delFs
c.753_756del4
1 paper
NM_001868.4
p.V251V
c.753G>A
3 papers
NM_001868.4
p.R240Q
c.719G>A
2 papers
NM_001868.4
p.R240W
c.718C>T
1 paper
NM_001868.4
p.P253A
c.757C>G
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