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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPA3

Variant:p.D172N

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

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

Surrounding Variants

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

1 paper

chr3:148879842 G>A

NM_001870.4

p.A177T

c.529G>A

Peptidase_M14

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=6, hom=0)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

1 paper

chr3:148879808 A>C

NM_001870.4

p.R165S

c.495A>C

Peptidase_M14

exact variant not in gnomAD71 overlapping SVs

1 paper

chr3:148879808 A>T

NM_001870.4

p.R165S

c.495A>T

Peptidase_M14

exact variant not in gnomAD71 overlapping SVs

1 paper

chr3:148879851 T>A

NM_001870.4

p.W180R

c.538T>A

Peptidase_M14

exact variant not in gnomAD71 overlapping SVs

1 paper

chr3:148879851 T>C

NM_001870.4

p.W180R

c.538T>C

Peptidase_M14

Exome: 0.0% (AC=1, hom=0)Genome: n/a71 overlapping SVs

1 paper

chr3:148879858 C>T

NM_001870.4

p.S182F

c.545C>T

Peptidase_M14

Exome: 0.0% (AC=8, hom=0)Genome: n/a71 overlapping SVs

1 paper

chr3:148879861 C>G

NM_001870.4

p.P183R

c.548C>G

Peptidase_M14

exact variant not in gnomAD71 overlapping SVs

1 paper

chr3:148879881 G>T

NM_001870.4

p.V190F

c.568G>T

Peptidase_M14

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)71 overlapping SVs

1 paper

chr3:148878700 T>C

NM_001870.4

p.R142R

c.426T>C

Peptidase_M14

exact variant not in gnomAD71 overlapping SVs

1 paper

chr3:148878520 G>A

NM_001870.4

p.A117T

c.349G>A

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=4, hom=0)71 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."