Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.S99_K100insT

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.S99_K100insT
c.295_299ins3
Surrounding Variants
1 paper
NM_021831.6
p.Q98L
c.293A>T
1 paper
NM_021831.6
p.G105_A107delFs
c.313_319del7
1 paper
NM_021831.6
p.G105fs
c.313_314fs
1 paper
NM_021831.6
p.M106V
c.316A>G
1 paper
NM_021831.6
p.A107delFs
c.319delG
1 paper
NM_021831.6
p.A107fs
c.319_320fs
6 papers
NM_021831.6
p.P108R
c.323C>G
1 paper
NM_021831.6
p.M83insFs
c.247_248dupAT
1 paper
NM_021831.6
p.R116_P117insFs
c.348_349insT
1 paper
NM_021831.6
p.W119delFs
c.355delT
1 paper
NM_021831.6
p.W119*
c.356G>A
1 paper
NM_021831.6
p.W119*
c.357G>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."