Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5

AGBL5

124 papers

RefSeq Summary

This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a 'dual-functional' degl...

Pfam Domains

Pepdidase_M14_Naa 10–155UCSCCytosolic carboxypeptidase N-terminal domain
Peptidase_M14aa 191–521UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

AGBL carboxypeptidase 5

HGNC Alias Symbols

FLJ21839; CCP5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 168 variants
8 papers
NM_021831.6
p.R276W
c.826C>T
6 papers
NM_021831.6
p.P108R
c.323C>G
6 papers
NM_021831.6
p.D295N
c.883G>A
5 papers
NM_021831.6
p.V251G
c.752T>G
5 papers
NM_021831.6
p.R281C
c.841C>T
5 papers
NM_021831.6
p.R487*
c.1459C>T
3 papers
NM_021831.6
p.R220*
c.658C>T
3 papers
NM_021831.6
p.R220Q
c.659G>A
3 papers
NM_021831.6
p.T419insFs
c.1255dupA
3 papers
NM_021831.6
p.A502insFs
c.1504dupG
3 papers
NM_021831.6
p.W592*
c.1775G>A
3 papers
NM_021831.6
p.W592*
c.1776G>A
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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."