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.S131I

c.392G>T

Surrounding Variants

1 paper

NM_001386094.1

p.S131C

c.391A>T

1 paper

NM_001386094.1

p.S130A

c.388T>G

1 paper

NM_001386094.1

p.V127V

c.381G>A

1 paper

NM_001386094.1

p.R126C

c.376C>T

1 paper

NM_001386094.1

p.L122F

c.364C>T

1 paper

NM_001386094.1

p.H120Y

c.358C>T

1 paper

NM_001386094.1

p.L119V

c.355C>G

1 paper

NM_001386094.1

p.L112Q

c.335T>A

1 paper

NM_001386094.1

p.L112L

c.334C>T

1 paper

NM_001386094.1

p.N111Y

c.331A>T

1 paper

NM_001386094.1

p.R109R

c.327G>A

1 paper

NM_001386094.1

p.L107Q

c.320T>A