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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPA3

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 64 variants

3 papers

chr3:148865504 G>T

NM_001870.4

p.E34*

c.100G>T

Propep_M14

exact variant not in gnomAD72 overlapping SVs

3 papers

chr3:148879825 C>T

NM_001870.4

p.T171M

c.512C>T

Peptidase_M14

Exome: 95.5% (AC=1393451, hom=665425)Genome: 96.7% (AC=147286, hom=71243)71 overlapping SVs

3 papers

chr3:148879845 C>T

NM_001870.4

p.R178*

c.532C>T

Peptidase_M14

Exome: 0.0% (AC=102, hom=0)Genome: 0.1% (AC=107, hom=0)71 overlapping SVs

3 papers

chr3:148883682 C>T

NM_001870.4

p.T283M

c.848C>T

Peptidase_M14

Exome: 0.6% (AC=8778, hom=36)Genome: 0.5% (AC=721, hom=1)70 overlapping SVs

2 papers

chr3:148879827 G>A

NM_001870.4

p.D172N

c.514G>A

Peptidase_M14

Exome: 0.4% (AC=5814, hom=8)Genome: 0.3% (AC=465, hom=1)71 overlapping SVs

2 papers

chr3:148882526 C>T

NM_001870.4

p.R237C

c.709C>T

Peptidase_M14

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=6, hom=0)70 overlapping SVs

2 papers

chr3:148886133 G>A

NM_001870.4

p.R341Q

c.1022G>A

Peptidase_M14

Exome: 0.7% (AC=9650, hom=866)Genome: 5.9% (AC=9042, hom=921)70 overlapping SVs

1 paper

chr3:148865311 A>T

NM_001870.4

p.R2W

c.4A>T

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:148865350 G>A

NM_001870.4

p.A15T

c.43G>A

Exome: 0.0% (AC=81, hom=0)Genome: 0.0% (AC=13, hom=0)72 overlapping SVs

1 paper

chr3:148865366 G>A

NM_001870.4

p.R20H

c.59G>A

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=1, hom=0)72 overlapping SVs

1 paper

chr3:148865381 T>G

NM_001870.4

p.R23Splc

c.68+6T>G

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:148865470 A>T

NM_001870.4

p.R23Splc

c.69-3A>T

exact variant not in gnomAD72 overlapping SVs

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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."