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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPVL

Variant:p.K417fs

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

chr7:29030646 T>TN

NM_031311.5

p.K417fs

c.1249_1250fs

Peptidase_S10

exact variant not in gnomAD86 overlapping SVs

Surrounding Variants

1 paper

chr7:29030645 CT>C

NM_031311.5

p.K417delFs

c.1251delT

Peptidase_S10

Exome: 0.0% (AC=4, hom=0)Genome: n/a86 overlapping SVs

3 papers

chr7:29030593 G>A

NM_031311.5

p.A435V

c.1304C>T

Peptidase_S10

Exome: 44.6% (AC=651114, hom=149136)Genome: 38.3% (AC=58176, hom=11917)86 overlapping SVs

1 paper

chr7:29030704 C>T

NM_031311.5

p.R398H

c.1193G>A

Peptidase_S10

Exome: 16.0% (AC=234213, hom=20494)Genome: 17.3% (AC=26285, hom=2518)86 overlapping SVs

1 paper

chr7:29030705 G>A

NM_031311.5

p.R398C

c.1192C>T

Peptidase_S10

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=2, hom=0)86 overlapping SVs

1 paper

chr7:29030725 A>T

NM_031311.5

p.V391E

c.1172T>A

Peptidase_S10

exact variant not in gnomAD86 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."