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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPA5

CPA5

43 papers

RefSeq Summary

Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approx...

Pfam Domains

Propep_M14aa 43–117UCSCCarboxypeptidase activation peptide

Peptidase_M14aa 145–423UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase A5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 59 variants

3 papers

chr7:130350011 C>T

NM_080385.5

p.P79S

c.235C>T

Propep_M14

Exome: 3.1% (AC=45529, hom=810)Genome: 2.3% (AC=3559, hom=62)60 overlapping SVs

2 papers

chr7:130346514 G>A

NM_080385.5

p.R10H

c.29G>A

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=7, hom=0)60 overlapping SVs

2 papers

chr7:130361168 T>C

NM_080385.5

p.V153A

c.458T>C

Peptidase_M14

exact variant not in gnomAD59 overlapping SVs

2 papers

chr7:130367540 T>C

NM_080385.5

p.L336S

c.1007T>C

Peptidase_M14

Exome: 20.2% (AC=295307, hom=31857)Genome: 24.4% (AC=37099, hom=5198)59 overlapping SVs

2 papers

chr7:130367547 G>C

NM_080385.5

p.E338D

c.1014G>C

Peptidase_M14

exact variant not in gnomAD59 overlapping SVs

2 papers

chr7:130367547 G>T

NM_080385.5

p.E338D

c.1014G>T

Peptidase_M14

Exome: 19.2% (AC=280327, hom=28553)Genome: 19.0% (AC=28855, hom=2887)59 overlapping SVs

1 paper

chr7:130346501 G>T

NM_080385.5

p.G6*

c.16G>T

exact variant not in gnomAD60 overlapping SVs

1 paper

chr7:130346507 G>A

NM_080385.5

p.G8R

c.22G>A

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=2, hom=0)60 overlapping SVs

1 paper

chr7:130346507 G>C

NM_080385.5

p.G8R

c.22G>C

exact variant not in gnomAD60 overlapping SVs

1 paper

chr7:130346513 C>T

NM_080385.5

p.R10C

c.28C>T

Exome: 0.0% (AC=96, hom=2)Genome: 0.0% (AC=3, hom=0)60 overlapping SVs

1 paper

chr7:130346522 C>T

NM_080385.5

p.P13S

c.37C>T

Exome: 0.0% (AC=183, hom=0)Genome: 0.0% (AC=21, hom=0)60 overlapping SVs

1 paper

chr7:130346546 C>G

NM_080385.5

p.L21V

c.61C>G

exact variant not in gnomAD60 overlapping SVs

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