Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.W592*

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
3 papers
NM_021831.6
p.W592*
c.1776G>A
Surrounding Variants
3 papers
NM_021831.6
p.W592*
c.1775G>A
1 paper
NM_021831.6
p.H596fs
c.1786_1787fs
1 paper
NM_021831.6
p.H596delFs
c.1787_1788delAT
1 paper
NM_021831.6
p.H596fs
c.1786_1787fs
1 paper
NM_021831.6
p.R598H
c.1793G>A
1 paper
NM_021831.6
p.G610V
c.1829G>T
1 paper
NM_021831.6
p.H624P
c.1871A>C
1 paper
NM_021831.6
p.G559R
c.1675G>A
1 paper
NM_021831.6
p.G559R
c.1675G>C
2 papers
NM_021831.6
p.P628H
c.1883C>A
1 paper
NM_021831.6
p.T635I
c.1904C>T
1 paper
NM_021831.6
p.R638Q
c.1913G>A
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