Varaico: Literature-Extracted Genetic Variants

Gene:AGBL5
Variant:p.T419insFs

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.T419insFs
c.1255dupA
Surrounding Variants
2 papers
NM_021831.6
p.T419fs
c.1255_1256fs
2 papers
NM_021831.6
p.I420fs
c.1258_1259fs
1 paper
NM_021831.6
p.P422insFs
c.1266dupC
1 paper
NM_021831.6
p.P422delFs
c.1266delC
1 paper
NM_021831.6
p.K423fs
c.1267_1268fs
1 paper
NM_021831.6
p.A410S
c.1228G>T
1 paper
NM_021831.6
p.V431V
c.1293G>T
1 paper
NM_021831.6
p.D432_G435del4
c.1294_1304del12
2 papers
NM_021831.6
p.D432V
c.1295A>T
1 paper
NM_021831.6
p.H436N
c.1306C>A
2 papers
NM_021831.6
p.F443C
c.1328T>G
1 paper
NM_021831.6
p.T392A
c.1174A>G
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