Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.E516A

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.E516A
c.1547A>C
Surrounding Variants
1 paper
NM_021831.6
p.G522delFs
c.1565delG
1 paper
NM_021831.6
p.A530T
c.1588G>A
1 paper
NM_021831.6
p.N535K
c.1605T>A
1 paper
NM_021831.6
p.N535K
c.1605T>G
1 paper
NM_021831.6
p.P540T
c.1618C>A
1 paper
NM_021831.6
p.P540S
c.1618C>T
1 paper
NM_021831.6
p.P543_P544delFs
c.1627_1630del4
1 paper
NM_021831.6
p.P544L
c.1631C>T
1 paper
NM_021831.6
p.S507A
c.1519T>G
1 paper
NM_021831.6
p.A502fs
c.1504_1505fs
1 paper
NM_021831.6
p.A502fs
c.1504_1505fs
3 papers
NM_021831.6
p.A502insFs
c.1504dupG
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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."