Varaico: Literature-Extracted Genetic Variants

AGBL1

185 papers

RefSeq Summary

Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutam...

Pfam Domains

TPR_CCP1_Naa 1–267UCSCCCP1-like, N-terminal TPR repeats

Pepdidase_M14_Naa 596–731UCSCCytosolic carboxypeptidase N-terminal domain

Peptidase_M14aa 754–992UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

AGBL carboxypeptidase 1

HGNC Alias Symbols

FLJ32310; CCP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001386094.1

p.D302G

c.905A>G

Surrounding Variants

1 paper

NM_001386094.1

p.F303L

c.907T>C

1 paper

NM_001386094.1

p.F303L

c.909T>A

1 paper

NM_001386094.1

p.F303L

c.909T>G

2 papers

NM_001386094.1

p.D305N

c.913G>A

1 paper

NM_001386094.1

p.D306E

c.918T>A

1 paper

NM_001386094.1

p.D306E

c.918T>G

1 paper

NM_001386094.1

p.D309E

c.927T>A

1 paper

NM_001386094.1

p.D309E

c.927T>G

1 paper

NM_001386094.1

p.E310K

c.928G>A

1 paper

NM_001386094.1

p.G320R

c.958G>A

1 paper

NM_001386094.1

p.G320R

c.958G>C

1 paper

NM_001386094.1

p.V322A

c.965T>C