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.G51V

c.152G>T

Surrounding Variants

1 paper

NM_001386094.1

p.G51R

c.151G>C

1 paper

NM_001386094.1

p.G51C

c.151G>T

1 paper

NM_001386094.1

p.G52C

c.154G>T

1 paper

NM_001386094.1

p.K50Q

c.148A>C

1 paper

NM_001386094.1

p.I48T

c.143T>C

1 paper

NM_001386094.1

p.A55T

c.163G>A

1 paper

NM_001386094.1

p.M47T

c.140T>C

1 paper

NM_001386094.1

p.Q58K

c.172C>A

1 paper

NM_001386094.1

p.Q58P

c.173A>C

1 paper

NM_001386094.1

p.Q58H

c.174G>C

1 paper

NM_001386094.1

p.T59S

c.175A>T

1 paper

NM_001386094.1

p.T59S

c.176C>G