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.R556S

c.1668G>T

Surrounding Variants

1 paper

NM_001386094.1

p.R556S

c.1668G>C

1 paper

NM_001386094.1

p.Q555*

c.1663C>T

1 paper

NM_001386094.1

p.L548V

c.1642T>G

1 paper

NM_001386094.1

p.W536C

c.1608G>T

1 paper

NM_001386094.1

p.P533S

c.1597C>T

1 paper

NM_001386094.1

p.V525M

c.1573G>A

1 paper

NM_001386094.1

p.R519K

c.1556G>A

1 paper

NM_001386094.1

p.R519fs

c.1555_1556fs

1 paper

NM_001386094.1

p.A518V

c.1553C>T

1 paper

NM_001386094.1

p.A516G

c.1547C>G

1 paper

NM_001386094.1

p.A516T

c.1546G>A

1 paper

NM_001386094.1

p.R505S

c.1513C>A