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.R564W

c.1690C>T

Surrounding Variants

1 paper

NM_001386094.1

p.P569R

c.1706C>G

1 paper

NM_001386094.1

p.R556S

c.1668G>T

1 paper

NM_001386094.1

p.V572I

c.1714G>A

1 paper

NM_001386094.1

p.E582D

c.1746G>T

1 paper

NM_001386094.1

p.N589H

c.1765A>C

2 papers

NM_001386094.1

p.N592Y

c.1774A>T

1 paper

NM_001386094.1

p.C593*

c.1779T>A

1 paper

NM_001386094.1

p.E601Q

c.1801G>C

1 paper

NM_001386094.1

p.K607R

c.1820A>G

1 paper

NM_001386094.1

p.R612C

c.1834C>T

1 paper

NM_001386094.1

p.R556S

c.1668G>C

1 paper

NM_001386094.1

p.R556S

c.1668G>T