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

1–12 of 264 variants

10 papers

NM_001386094.1

p.C990S

c.2969G>C

6 papers

NM_001386094.1

p.C990S

c.2968T>A

4 papers

NM_001386094.1

p.R794H

c.2381G>A

3 papers

NM_001386094.1

p.N433fs

c.1297_1298fs

2 papers

NM_001386094.1

p.T59T

c.177C>T

2 papers

NM_001386094.1

p.R93W

c.277C>T

2 papers

NM_001386094.1

p.D102A

c.305A>C

2 papers

NM_001386094.1

p.R219K

c.656G>A

2 papers

NM_001386094.1

p.D305N

c.913G>A

2 papers

NM_001386094.1

p.I385delFs

c.1153delA

2 papers

NM_001386094.1

p.N592Y

c.1774A>T

2 papers

NM_001386094.1

p.R758W

c.2272C>T