AGBL5

AGBL carboxypeptidase 5

Summary

This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]

Known Variants574 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs193042708	2:27,275,585	C/T	upstream gene variant	—
rs766274421	2:27,275,825	C/T	—	likely benign
rs751461917	2:27,275,836	C/T	—	uncertain significance
rs2465430709	2:27,275,844	G/T	—	likely benign
rs1668243864	2:27,275,845	G/A	—	uncertain significance
rs1010129145	2:27,275,848	T/C	—	likely benign
rs757615162	2:27,275,853	G/A	—	likely benign
rs2465430845	2:27,275,858	G/A	—	uncertain significance
rs1267163681	2:27,275,861	C/T	—	uncertain significance
rs772043921	2:27,275,874	A/G	—	likely benign
rs1668246689	2:27,275,879	A/G	—	uncertain significance
rs2465431146	2:27,275,887	C/T	—	uncertain significance
rs200032492	2:27,275,889	C/T	—	likely benign
rs2148267429	2:27,275,900	T/C	—	uncertain significance
rs140434382	2:27,275,904	A/C	—	uncertain significance
rs748505939	2:27,275,911	T/A	—	uncertain significance
rs199584618	2:27,275,914	A/G	—	uncertain significance
rs1407059827	2:27,275,915	G/A	—	uncertain significance
rs1284161656	2:27,275,917	G/C	—	uncertain significance
rs762390189	2:27,275,919	T/A	—	uncertain significance
rs2148267566	2:27,275,933	G/C	—	uncertain significance
rs767340503	2:27,275,937	T/C	—	likely benign
rs2148267654	2:27,275,942	C/T	—	uncertain significance
rs368039686	2:27,275,943	G/A	—	likely benign
rs2465432258	2:27,275,959	G/A	—	uncertain significance
rs780114785	2:27,275,975	C/T	—	uncertain significance
rs976838997	2:27,275,979	C/T	—	likely benign
rs752021415	2:27,275,982	T/C	—	likely benign
rs1668257250	2:27,275,985	A/T	—	uncertain significance
rs1337804475	2:27,275,989	A/T	—	likely pathogenic
rs1377711164	2:27,275,992	G/C	—	uncertain significance
rs781641821	2:27,276,001	C/T	—	pathogenic
rs909236165	2:27,276,002	G/A	—	uncertain significance
rs1272678672	2:27,276,020	C/T	—	uncertain significance
rs913232105	2:27,276,045	T/C	—	uncertain significance
rs1668260671	2:27,276,046	A/G	—	uncertain significance
rs777432130	2:27,276,048	G/A	—	likely benign
rs2148268038	2:27,276,051	A/T	—	likely benign
rs748901747	2:27,276,052	C/T	—	likely benign
rs2148268076	2:27,276,058	G/A	—	likely benign
rs28364811	2:27,276,061	G/A	—	benign
rs751803971	2:27,276,255	T/C	—	likely benign
rs1020296557	2:27,276,265	C/T	—	likely benign
rs369899651	2:27,276,280	T/C	—	uncertain significance
rs548014160	2:27,276,288	C/T	—	likely benign
rs768584654	2:27,276,289	G/A	—	uncertain significance
rs762250069	2:27,276,292	C/T	—	uncertain significance
rs373073782	2:27,276,293	G/A	—	uncertain significance
rs376035710	2:27,276,294	G/A	—	likely benign
rs759641961	2:27,276,295	G/A	—	uncertain significance
rs2148268962	2:27,276,307	G/C	—	uncertain significance
rs370791852	2:27,276,312	A/T	—	uncertain significance
rs2465436437	2:27,276,313	C/G	—	uncertain significance
rs202135413	2:27,276,320	A/G	—	uncertain significance
rs1299234763	2:27,276,324	C/T	—	likely benign
rs1365319850	2:27,276,327	C/T	—	likely benign
rs916506529	2:27,276,342	C/T	—	likely benign
rs757544232	2:27,276,361	T/G	—	uncertain significance
rs2465437271	2:27,276,369	C/A	—	likely benign
rs1271339736	2:27,276,377	C/G	—	likely pathogenic
rs1437800309	2:27,276,385	C/T	—	uncertain significance
rs745474264	2:27,276,386	G/A	—	uncertain significance
rs1362104505	2:27,276,393	G/A	—	likely benign
rs768782523	2:27,276,401	G/T	—	uncertain significance
rs2465437712	2:27,276,405	A/G	—	likely benign
rs1423131944	2:27,276,406	C/T	—	uncertain significance
rs200969045	2:27,276,407	G/A	—	uncertain significance
rs2148269372	2:27,276,410	G/A	—	pathogenic
rs769436105	2:27,276,416	G/A	—	uncertain significance
rs759693030	2:27,276,428	G/A	—	uncertain significance
rs760711057	2:27,276,453	A/C	—	likely benign
rs2465441099	2:27,276,748	C/T	—	likely benign
rs747968599	2:27,276,755	G/C	—	likely benign
rs2465441256	2:27,276,763	G/A	—	likely pathogenic
rs769641954	2:27,276,774	C/T	—	uncertain significance
rs533283908	2:27,276,775	G/A	—	likely benign
rs2148270392	2:27,276,778	G/A	—	likely benign
rs1446150684	2:27,276,782	G/A	—	uncertain significance
rs2465441791	2:27,276,794	G/A	—	uncertain significance
rs1476111182	2:27,276,800	C/T	—	uncertain significance
rs749075984	2:27,276,802	T/G	—	likely benign
rs143002099	2:27,276,805	C/T	—	likely benign
rs3739090	2:27,276,806	G/A	—	uncertain significance
rs1396565850	2:27,276,813	G/A	—	uncertain significance
rs144135243	2:27,276,815	C/T	—	uncertain significance
rs765762435	2:27,276,816	G/A	—	uncertain significance
rs1668303849	2:27,276,831	T/A	—	uncertain significance
rs766150855	2:27,276,836	G/A	—	uncertain significance
rs754521080	2:27,276,844	C/T	—	likely benign
rs780508825	2:27,276,850	C/G	—	likely benign
rs1668304739	2:27,276,853	C/T	—	likely benign
rs2465442464	2:27,276,855	C/G	—	uncertain significance
rs2465442529	2:27,276,861	G/C	—	uncertain significance
rs2465442587	2:27,276,868	C/G	—	uncertain significance
rs749127946	2:27,276,880	A/G	—	likely benign
rs1668306278	2:27,276,884	C/T	—	pathogenic
rs780288772	2:27,276,892	C/T	—	likely benign
rs981921240	2:27,276,896	C/T	—	uncertain significance
rs747172298	2:27,276,897	G/A	—	uncertain significance
rs142859717	2:27,276,903	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 574 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.