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.E99V

c.296A>T

Surrounding Variants

1 paper

NM_001386094.1

p.E99*

c.295G>T

1 paper

NM_001386094.1

p.E97K

c.289G>A

2 papers

NM_001386094.1

p.D102A

c.305A>C

1 paper

NM_001386094.1

p.V103L

c.307G>C

1 paper

NM_001386094.1

p.V103L

c.307G>T

2 papers

NM_001386094.1

p.R93W

c.277C>T

1 paper

NM_001386094.1

p.G92R

c.274G>A

1 paper

NM_001386094.1

p.L107Q

c.320T>A

1 paper

NM_001386094.1

p.K90M

c.269A>T

1 paper

NM_001386094.1

p.K90E

c.268A>G

1 paper

NM_001386094.1

p.R109R

c.327G>A

1 paper

NM_001386094.1

p.N111Y

c.331A>T