Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.R237H

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
5 papers
NM_001868.4
p.R237H
c.710G>A
Surrounding Variants
2 papers
NM_001868.4
p.R237C
c.709C>T
2 papers
NM_001868.4
p.K238M
c.713A>T
2 papers
NM_001868.4
p.R240W
c.718C>T
1 paper
NM_001868.4
p.R234R
c.702C>T
3 papers
NM_001868.4
p.R240Q
c.719G>A
1 paper
NM_001868.4
p.R234H
c.701G>A
1 paper
NM_001868.4
p.N233N
c.699T>C
1 paper
NM_001868.4
p.S241C
c.722C>G
1 paper
NM_001868.4
p.S246F
c.737C>T
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
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."