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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPA6

CPA6

82 papers

RefSeq Summary

The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of ...

Pfam Domains

Propep_M14aa 43–119UCSCCarboxypeptidase activation peptide

Peptidase_M14aa 145–424UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase A6

HGNC Alias Symbol

CPAH

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 85 variants

7 papers

chr8:67483807 C>G

NM_020361.5

p.G267R

c.799G>C

Peptidase_M14

exact variant not in gnomAD27 overlapping SVs

7 papers

chr8:67483807 C>T

NM_020361.5

p.G267R

c.799G>A

Peptidase_M14

Exome: 0.3% (AC=4248, hom=9)Genome: 0.2% (AC=380, hom=0)27 overlapping SVs

6 papers

chr8:67624235 A>G

NM_020361.5

p.F45L

c.133T>C

Propep_M14

Exome: 22.9% (AC=311803, hom=37310)Genome: 25.6% (AC=38920, hom=5181)25 overlapping SVs

6 papers

chr8:67624233 A>C

NM_020361.5

p.F45L

c.135T>G

Propep_M14

exact variant not in gnomAD25 overlapping SVs

6 papers

chr8:67624233 A>T

NM_020361.5

p.F45L

c.135T>A

Propep_M14

Exome: 0.0% (AC=1, hom=0)Genome: n/a25 overlapping SVs

6 papers

chr8:67509533 G>C

NM_020361.5

p.S173C

c.518C>G

Peptidase_M14

Exome: 8.2% (AC=114620, hom=5127)Genome: 6.9% (AC=10489, hom=468)25 overlapping SVs

6 papers

chr8:67506804 G>C

NM_020361.5

p.Q207E

c.619C>G

Peptidase_M14

Exome: 0.2% (AC=3001, hom=4)Genome: 0.1% (AC=186, hom=0)25 overlapping SVs

6 papers

chr8:67483797 G>A

NM_020361.5

p.A270V

c.809C>T

Peptidase_M14

Exome: 0.0% (AC=460, hom=0)Genome: 0.3% (AC=432, hom=2)27 overlapping SVs

5 papers

chr8:67484680 T>C

NM_020361.5

p.N249S

c.746A>G

Peptidase_M14

Exome: 13.5% (AC=184404, hom=13631)Genome: 11.2% (AC=17092, hom=1133)27 overlapping SVs

3 papers

chr8:67746023 C>T

NM_020361.5

p.R36H

c.107G>A

Exome: 0.0% (AC=44, hom=0)Genome: 0.0% (AC=2, hom=0)26 overlapping SVs

3 papers

chr8:67434148 G>A

NM_020361.5

p.R311*

c.931C>T

Peptidase_M14

Exome: 0.0% (AC=46, hom=0)Genome: 0.0% (AC=31, hom=0)30 overlapping SVs

3 papers

chr8:67422626 C>G

NM_020361.5

p.E398Q

c.1192G>C

Peptidase_M14

Exome: 0.0% (AC=1, hom=0)Genome: n/a29 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."