Varaico: Literature-Extracted Genetic Variants

Gene:CPA4
Variant:p.R417L

CPA4

58 papers

RefSeq Summary

This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that ca...

Pfam Domains

Propep_M14aa 27–101UCSCCarboxypeptidase activation peptide
Propep_M14aa 27–101UCSCCarboxypeptidase activation peptide
Peptidase_M14aa 129–408UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase A4

HGNC Alias Name

carboxypeptidase A3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016352.4
p.R417L
c.1250G>T
Surrounding Variants
1 paper
NM_016352.4
p.H415R
c.1244A>G
1 paper
NM_016352.4
p.E414G
c.1241A>G
1 paper
NM_016352.4
p.I399L
c.1195A>C
1 paper
NM_016352.4
p.Q397*
c.1189C>T
1 paper
NM_016352.4
p.Y389S
c.1166A>C
1 paper
NM_016352.4
p.D372H
c.1114G>C
1 paper
NM_016352.4
p.S366R
c.1096A>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."