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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPA6

Variant:p.N271S

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

Selected Variant

1 paper

chr8:67483794 T>C

NM_020361.5

p.N271S

c.812A>G

Peptidase_M14

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)27 overlapping SVs

Surrounding Variants

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

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

1 paper

chr8:67483812 C>T

NM_020361.5

p.C265Y

c.794G>A

Peptidase_M14

Exome: 0.0% (AC=1, hom=0)Genome: n/a27 overlapping SVs

1 paper

chr8:67483816 G>A

NM_020361.5

p.R264C

c.790C>T

Peptidase_M14

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)27 overlapping SVs

1 paper

chr8:67483836 C>A

NM_020361.5

p.R257M

c.770G>T

Peptidase_M14

Exome: 0.0% (AC=1, hom=0)Genome: n/a27 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

1 paper

chr8:67484738 G>C

NM_020361.5

p.L230V

c.688C>G

Peptidase_M14

Exome: 0.0% (AC=3, hom=0)Genome: n/a27 overlapping SVs

1 paper

chr8:67484757 C>A

NM_020361.5

p.M223I

c.669G>T

Peptidase_M14

exact variant not in gnomAD27 overlapping SVs

1 paper

chr8:67484757 C>G

NM_020361.5

p.M223I

c.669G>C

Peptidase_M14

exact variant not in gnomAD27 overlapping SVs

1 paper

chr8:67484757 C>T

NM_020361.5

p.M223I

c.669G>A

Peptidase_M14

Exome: 0.0% (AC=14, hom=0)Genome: n/a27 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."