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.L368V

c.1102C>G

Surrounding Variants

1 paper

NM_001386094.1

p.N373Y

c.1117A>T

1 paper

NM_001386094.1

p.H384delFs

c.1152delC

2 papers

NM_001386094.1

p.I385delFs

c.1153delA

1 paper

NM_001386094.1

p.P386L

c.1157C>T

1 paper

NM_001386094.1

p.S401N

c.1202G>A

1 paper

NM_001386094.1

p.E406K

c.1216G>A

1 paper

NM_001386094.1

p.R407S

c.1221A>C

1 paper

NM_001386094.1

p.R407S

c.1221A>T

1 paper

NM_001386094.1

p.A410T

c.1228G>A

1 paper

NM_001386094.1

p.S414A

c.1240T>G

1 paper

NM_001386094.1

p.V419M

c.1255G>A

1 paper

NM_001386094.1

p.T421M

c.1262C>T