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.V972_V973delFs

c.2916_2917delGG

Surrounding Variants

1 paper

NM_001386094.1

p.T968M

c.2903C>T

1 paper

NM_001386094.1

p.S955S

c.2865C>T

6 papers

NM_001386094.1

p.C990S

c.2968T>A

10 papers

NM_001386094.1

p.C990S

c.2969G>C

1 paper

NM_001386094.1

p.C990F

c.2969G>T

1 paper

NM_001386094.1

p.T919A

c.2755A>G

1 paper

NM_001386094.1

p.K917Q

c.2749A>C

1 paper

NM_001386094.1

p.K906R

c.2717A>G