AGBL2

AGBL carboxypeptidase 2

Summary

Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in protein side chain deglutamylation. Located in centriole and ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants54 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14393720511:47,681,728C/Tbenign
rs53774703511:47,681,746C/Guncertain significance
rs74812646611:47,681,756T/Cuncertain significance
rs13875991211:47,681,762G/Alikely benign
rs75127890111:47,681,811A/Cuncertain significance
rs14581254111:47,681,851T/Cuncertain significance
rs3413611811:47,681,878T/Cbenign
rs711343811:47,687,885G/A
rs77268836211:47,688,575G/Auncertain significance
rs75547434911:47,689,214T/Auncertain significance
rs139485517211:47,690,448G/Auncertain significance
rs101093676111:47,698,813T/Clikely benign
rs250989728011:47,698,847A/Tuncertain significance
rs77982878511:47,698,923G/Auncertain significance
rs1012870511:47,699,883T/Cintron variant
rs102419689811:47,701,590G/Cuncertain significance
rs76466674111:47,707,486G/Astop gainedpathogenic
rs75481688411:47,707,506C/Tuncertain significance
rs250990981311:47,711,637A/Guncertain significance
rs250990983211:47,711,664A/Tuncertain significance
rs6173788711:47,711,710C/Tuncertain significance
rs37385984811:47,711,784A/Guncertain significance
rs140867216911:47,711,848C/Tlikely benign
rs75645800311:47,711,902T/Guncertain significance
rs77652702511:47,711,951C/Auncertain significance
rs76128359611:47,711,980T/Cuncertain significance
rs76226001211:47,712,000C/Guncertain significance
rs86695665611:47,712,085A/Cuncertain significance
rs250991048911:47,712,153T/Auncertain significance
rs14061398111:47,712,264T/Auncertain significance
rs76102702311:47,713,679C/Tuncertain significance
rs130606827511:47,713,734T/Cuncertain significance
rs14140365411:47,715,487A/Tintron variant
rs1103934211:47,716,975C/Aintron variant
rs14442945011:47,721,008T/Cbenign
rs76687915411:47,721,073G/Auncertain significance
rs793552811:47,722,819G/C
rs14159919211:47,723,410C/Tintron variant
rs1182394911:47,723,512G/Aintron variant
rs711711511:47,723,540A/G
rs13960653011:47,726,127C/Tlikely benign
rs14634322511:47,726,134T/Cuncertain significance
rs7973911911:47,726,154A/Cbenign
rs20168580911:47,726,205C/Tuncertain significance
rs119749544111:47,726,218C/Tuncertain significance
rs14936976511:47,726,274T/Amissense variant
rs1160239511:47,726,977C/Gintron variant
rs1160296111:47,727,748C/A
rs712126411:47,730,148G/Aintron variant
rs13996262411:47,731,963C/Glikely benign
rs74552660411:47,732,018C/Tlikely benign
rs77127640111:47,732,033G/Auncertain significance
rs37245161211:47,735,899T/Auncertain significance
rs1103935511:47,737,501C/A

Gene information from NCBI Gene. Variant classifications from ClinVar.