Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.R125W

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
2 papers
NM_021831.6
p.R125W
c.373C>T
Surrounding Variants
1 paper
NM_021831.6
p.T127delFs
c.381delC
1 paper
NM_021831.6
p.F128Y
c.383T>A
1 paper
NM_021831.6
p.E129*
c.385G>T
1 paper
NM_021831.6
p.E129V
c.386A>T
1 paper
NM_021831.6
p.W119*
c.357G>A
1 paper
NM_021831.6
p.W119C
c.357G>C
1 paper
NM_021831.6
p.W119C
c.357G>T
1 paper
NM_021831.6
p.W119*
c.356G>A
1 paper
NM_021831.6
p.W119delFs
c.355delT
1 paper
NM_021831.6
p.R116_P117insFs
c.348_349insT
6 papers
NM_021831.6
p.P108R
c.323C>G
1 paper
NM_021831.6
p.A107fs
c.319_320fs
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