Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.K401N

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.K401N
c.1203G>C
Surrounding Variants
1 paper
NM_001868.4
p.K401N
c.1203G>T
1 paper
NM_001868.4
p.A400V
c.1199C>T
1 paper
NM_001868.4
p.T403M
c.1208C>T
1 paper
NM_001868.4
p.T403T
c.1209G>A
1 paper
NM_001868.4
p.W404delFs
c.1211delG
1 paper
NM_001868.4
p.P398L
c.1193C>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.L407F
c.1219C>T
1 paper
NM_001868.4
p.I396V
c.1186A>G
1 paper
NM_001868.4
p.I410_H417ins2
c.1228_1251dup24
1 paper
NM_001868.4
p.T414I
c.1241C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."