Varaico: Literature-Extracted Genetic Variants

Gene:CPQ
Variant:p.E39K

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016134.4
p.E39K
c.115G>A
Surrounding Variants
1 paper
NM_016134.4
p.I23T
c.68T>C
1 paper
NM_016134.4
p.T73A
c.217A>G
1 paper
NM_016134.4
p.G75V
c.224G>T
1 paper
NM_016134.4
p.S81C
c.242C>G
1 paper
NM_016134.4
p.L100M
c.298C>A
1 paper
NM_016134.4
p.E114K
c.340G>A
1 paper
NM_016134.4
p.G116A
c.347G>C
1 paper
NM_016134.4
p.G140A
c.419G>C
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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."