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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPVL

Variant:p.P17S

CPVL

59 papers

RefSeq Summary

The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single am...

Pfam Domains

Peptidase_S10aa 64–468UCSCSerine carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase vitellogenic like

HGNC Previous Name

carboxypeptidase, vitellogenic-like

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr7:29121013 G>A

NM_031311.5

p.P17S

c.49C>T

Exome: 0.0% (AC=6, hom=0)Genome: n/a85 overlapping SVs

Surrounding Variants

2 papers

chr7:29120988 C>T

NM_031311.5

p.R25H

c.74G>A

Exome: 18.0% (AC=263162, hom=25664)Genome: 14.0% (AC=21296, hom=1847)85 overlapping SVs

1 paper

chr7:29121048 A>G

NM_031311.5

p.M5T

c.14T>C

Exome: 0.5% (AC=7029, hom=38)Genome: 0.3% (AC=515, hom=3)85 overlapping SVs

1 paper

chr7:29120967 G>A

NM_031311.5

p.S32F

c.95C>T

exact variant not in gnomAD85 overlapping SVs

1 paper

chr7:29120938 G>C

NM_031311.5

p.P42A

c.124C>G

exact variant not in gnomAD85 overlapping SVs

1 paper

chr7:29120922 G>A

NM_031311.5

p.P47L

c.140C>T

exact variant not in gnomAD85 overlapping SVs

2 papers

chr7:29112810 C>T

NM_031311.5

p.S61N

c.182G>A

Exome: 0.1% (AC=796, hom=3)Genome: 0.1% (AC=88, hom=0)86 overlapping SVs

1 paper

chr7:29112766 C>T

NM_031311.5

p.G76S

c.226G>A

Peptidase_S10

Exome: 0.0% (AC=88, hom=0)Genome: 0.0% (AC=12, hom=0)86 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."