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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPQ

Variant:p.H350Q

CPQ

51 papers

RefSeq Summary

This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by R...

Pfam Domains

Peptidase_M28aa 270–459UCSCPeptidase family M28

Gene Aliases

HGNC Name

carboxypeptidase Q

HGNC Alias Symbols

LDP; PGCP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:97029491 C>G

NM_016134.4

p.H350Q

c.1050C>G

Peptidase_M28

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=3, hom=0)27 overlapping SVs

Surrounding Variants

1 paper

chr8:97029491 C>A

NM_016134.4

p.H350Q

c.1050C>A

Peptidase_M28

exact variant not in gnomAD27 overlapping SVs

1 paper

chr8:97029452 A>C

NM_016134.4

p.E337D

c.1011A>C

Peptidase_M28

exact variant not in gnomAD27 overlapping SVs

1 paper

chr8:97029452 A>T

NM_016134.4

p.E337D

c.1011A>T

Peptidase_M28

exact variant not in gnomAD27 overlapping SVs

1 paper

chr8:97029427 G>A

NM_016134.4

p.R329Q

c.986G>A

Peptidase_M28

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=4, hom=0)27 overlapping SVs

2 papers

chr8:97029409 G>A

NM_016134.4

p.R323H

c.968G>A

Peptidase_M28

Exome: 0.8% (AC=12149, hom=73)Genome: 0.7% (AC=1021, hom=5)27 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."