Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.R281C

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
5 papers
NM_021831.6
p.R281C
c.841C>T
Surrounding Variants
1 paper
NM_021831.6
p.R281H
c.842G>A
8 papers
NM_021831.6
p.R276W
c.826C>T
1 paper
NM_021831.6
p.P275L
c.824C>T
1 paper
NM_021831.6
p.K287E
c.859A>G
1 paper
NM_021831.6
p.P290S
c.868C>T
6 papers
NM_021831.6
p.D295N
c.883G>A
1 paper
NM_021831.6
p.Y302H
c.904T>C
1 paper
NM_021831.6
p.Y302F
c.905A>T
2 papers
NM_021831.6
p.R303H
c.908G>A
1 paper
NM_021831.6
p.E255K
c.763G>A
1 paper
NM_021831.6
p.E255Q
c.763G>C
1 paper
NM_021831.6
p.H252Y
c.754C>T
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