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.A801P

c.2401G>C

Surrounding Variants

1 paper

NM_001386094.1

p.T800T

c.2400T>C

4 papers

NM_001386094.1

p.R794H

c.2381G>A

1 paper

NM_001386094.1

p.R794S

c.2380C>A

1 paper

NM_001386094.1

p.V813L

c.2437G>C

1 paper

NM_001386094.1

p.T817T

c.2451C>G

1 paper

NM_001386094.1

p.P841T

c.2521C>A

1 paper

NM_001386094.1

p.M842I

c.2526G>A

1 paper

NM_001386094.1

p.M842I

c.2526G>C

1 paper

NM_001386094.1

p.M842I

c.2526G>T

1 paper

NM_001386094.1

p.G851G

c.2553C>A