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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPA3

Variant:p.N240N

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

Selected Variant

1 paper

chr3:148882537 C>T

NM_001870.4

p.N240N

c.720C>T

Peptidase_M14

Exome: 0.0% (AC=4, hom=0)Genome: n/a70 overlapping SVs

Surrounding Variants

1 paper

chr3:148882527 G>A

NM_001870.4

p.R237H

c.710G>A

Peptidase_M14

Exome: 0.0% (AC=133, hom=1)Genome: 0.0% (AC=12, hom=0)70 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

1 paper

chr3:148882553 A>G

NM_001870.4

p.I246V

c.736A>G

Peptidase_M14

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)70 overlapping SVs

1 paper

chr3:148882555 C>G

NM_001870.4

p.I246M

c.738C>G

Peptidase_M14

Exome: 0.0% (AC=1, hom=0)Genome: n/a70 overlapping SVs

1 paper

chr3:148882511 A>C

NM_001870.4

p.M232L

c.694A>C

Peptidase_M14

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)70 overlapping SVs

1 paper

chr3:148882511 A>T

NM_001870.4

p.M232L

c.694A>T

Peptidase_M14

Exome: 0.0% (AC=729, hom=6)Genome: 0.5% (AC=696, hom=7)70 overlapping SVs

1 paper

chr3:148881626 G>A

NM_001870.4

p.W227*

c.681G>A

Peptidase_M14

Exome: 0.0% (AC=1, hom=0)Genome: n/a70 overlapping SVs

1 paper

chr3:148881625 G>A

NM_001870.4

p.W227*

c.680G>A

Peptidase_M14

Exome: 0.0% (AC=19, hom=0)Genome: n/a70 overlapping SVs

1 paper

chr3:148881584 C>T

NM_001870.4

p.Y213Y

c.639C>T

Peptidase_M14

Exome: 0.0% (AC=1, hom=0)Genome: n/a70 overlapping SVs

1 paper

chr3:148881571 G>A

NM_001870.4

p.R209Q

c.626G>A

Peptidase_M14

Exome: 0.0% (AC=43, hom=0)Genome: 0.0% (AC=4, hom=0)70 overlapping SVs

1 paper

chr3:148881561 C>T

NM_001870.4

p.L206F

c.616C>T

Peptidase_M14

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:148883633 C>G

NM_001870.4

p.P267A

c.799C>G

Peptidase_M14

Exome: 0.0% (AC=67, hom=0)Genome: 0.0% (AC=8, hom=0)70 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."