Varaico: Literature-Extracted Genetic Variants

Gene:CPA3
Variant:p.R20H

CPA3

61 papers

RefSeq Summary

This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein is proteolytically processed to generate a mature protease that is released by mast cell...

Pfam Domains

Propep_M14aa 27–103UCSCCarboxypeptidase activation peptide
Peptidase_M14aa 125–404UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase A3

HGNC Previous Name

carboxypeptidase A3 (mast cell)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001870.4
p.R20H
c.59G>A
Surrounding Variants
1 paper
NM_001870.4
p.R23Splc
c.68+6T>G
1 paper
NM_001870.4
p.A15T
c.43G>A
1 paper
NM_001870.4
p.R2W
c.4A>T
1 paper
NM_001870.4
p.R23Splc
c.69-3A>T
3 papers
NM_001870.4
p.E34*
c.100G>T
1 paper
NM_001870.4
p.E48_L49Splc
c.144+1G>C
1 paper
NM_001870.4
p.R69*
c.205C>T
1 paper
NM_001870.4
p.A77T
c.229G>A
1 paper
NM_001870.4
p.A77A
c.231C>T
1 paper
NM_001870.4
p.E90V
c.269A>T
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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."