Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.A240delFs

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.A240delFs
c.719delC
Surrounding Variants
1 paper
NM_021831.6
p.R238H
c.713G>A
1 paper
NM_021831.6
p.K242N
c.726G>C
1 paper
NM_021831.6
p.K242N
c.726G>T
1 paper
NM_021831.6
p.R223H
c.668G>A
3 papers
NM_021831.6
p.R220Q
c.659G>A
3 papers
NM_021831.6
p.R220*
c.658C>T
1 paper
NM_021831.6
p.D219N
c.655G>A
1 paper
NM_021831.6
p.D219_E221del0
c.657_662del6
1 paper
NM_021831.6
p.L216V
c.646C>G
1 paper
NM_021831.6
p.R193W
c.577C>T
1 paper
NM_021831.6
p.L186_D187del2
c.556_560del6
1 paper
NM_021831.6
p.R250S
c.750A>C
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