Varaico: Literature-Extracted Genetic Variants

Gene:CPA3
Variant:p.R341Q

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
2 papers
NM_001870.4
p.R341Q
c.1022G>A
Surrounding Variants
1 paper
NM_001870.4
p.L338V
c.1012C>G
1 paper
NM_001870.4
p.D336N
c.1006G>A
1 paper
NM_001870.4
p.L327_A328Splc
c.982-1G>C
1 paper
NM_001870.4
p.L327_A328Splc
c.981+5G>A
1 paper
NM_001870.4
p.S318P
c.952T>C
1 paper
NM_001870.4
p.Y316F
c.947A>T
1 paper
NM_001870.4
p.S305F
c.914C>T
3 papers
NM_001870.4
p.T283M
c.848C>T
1 paper
NM_001870.4
p.E282K
c.844G>A
1 paper
NM_001870.4
p.E278K
c.832G>A
1 paper
NM_001870.4
p.P277T
c.829C>A
1 paper
NM_001870.4
p.R273P
c.818G>C
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