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.L746P

c.2237T>C

Surrounding Variants

1 paper

NM_001386094.1

p.L746L

c.2236C>T

1 paper

NM_001386094.1

p.E747K

c.2239G>A

2 papers

NM_001386094.1

p.R758W

c.2272C>T

1 paper

NM_001386094.1

p.A778S

c.2332G>T

1 paper

NM_001386094.1

p.S782F

c.2345C>T

1 paper

NM_001386094.1

p.E786K

c.2356G>A