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.A67V

c.200C>T

Surrounding Variants

1 paper

NM_001386094.1

p.A67T

c.199G>A

1 paper

NM_001386094.1

p.A64T

c.190G>A

1 paper

NM_001386094.1

p.Y71*

c.213T>A

1 paper

NM_001386094.1

p.L74L

c.222C>G

1 paper

NM_001386094.1

p.L75V

c.223C>G

2 papers

NM_001386094.1

p.T59T

c.177C>T

1 paper

NM_001386094.1

p.T59S

c.176C>G

1 paper

NM_001386094.1

p.L75Q

c.224T>A

1 paper

NM_001386094.1

p.T59S

c.175A>T

1 paper

NM_001386094.1

p.Q58H

c.174G>C

1 paper

NM_001386094.1

p.Q58P

c.173A>C

1 paper

NM_001386094.1

p.Q58K

c.172C>A