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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPA6

Variant:p.G39Splc

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

chr8:67624253 T>C

NM_020361.5

p.G39Splc

c.117-2A>G

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

Surrounding Variants

1 paper

chr8:67624250 C>G

NM_020361.5

p.D40H

c.118G>C

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

1 paper

chr8:67624241 T>C

NM_020361.5

p.I43V

c.127A>G

Propep_M14

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=4, hom=0)25 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

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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."