Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.Y275H

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
2 papers
NM_001868.4
p.Y275H
c.823T>C
Surrounding Variants
1 paper
NM_001868.4
p.T274T
c.822T>A
1 paper
NM_001868.4
p.H276R
c.827A>G
3 papers
NM_001868.4
p.G277S
c.829G>A
1 paper
NM_001868.4
p.G277A
c.830G>C
1 paper
NM_001868.4
p.S272S
c.816G>T
1 paper
NM_001868.4
p.S272*
c.815C>A
1 paper
NM_001868.4
p.S272L
c.815C>T
1 paper
NM_001868.4
p.C271W
c.813C>G
4 papers
NM_001868.4
p.C271R
c.811T>C
1 paper
NM_001868.4
p.C271G
c.811T>G
3 papers
NM_001868.4
p.P270R
c.809C>G
1 paper
NM_001868.4
p.F279F
c.837T>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."