Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.E349D

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
Selected Variant
1 paper
NM_021831.6
p.E349D
c.1047G>C
Surrounding Variants
1 paper
NM_021831.6
p.E349D
c.1047G>T
1 paper
NM_021831.6
p.S348_E349insT
c.1042_1046ins3
1 paper
NM_021831.6
p.G328R
c.982G>A
1 paper
NM_021831.6
p.G328R
c.982G>C
2 papers
NM_021831.6
p.Y315D
c.943T>G
2 papers
NM_021831.6
p.R313H
c.938G>A
1 paper
NM_021831.6
p.A386T
c.1156G>A
1 paper
NM_021831.6
p.R313C
c.937C>T
1 paper
NM_021831.6
p.R313_D319del7
c.937_956del21
1 paper
NM_021831.6
p.G308E
c.923G>A
1 paper
NM_021831.6
p.T392A
c.1174A>G
1 paper
NM_021831.6
p.A410S
c.1228G>T
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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."