AGBL1

AGBL carboxypeptidase 1

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 glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]

Known Variants121 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12914656	15:86,660,720	T/C	upstream gene variant	—
rs557696961	15:86,669,517	A/G	—	—
rs531168307	15:86,685,283	G/C	—	benign
rs762602881	15:86,686,920	T/C	—	likely benign
rs183588077	15:86,687,005	C/T	—	uncertain significance
rs2505541532	15:86,687,047	T/C	—	uncertain significance
rs186767486	15:86,687,049	C/T	—	likely benign
rs572239525	15:86,702,169	A/C	—	uncertain significance
rs1307320647	15:86,702,218	T/C	—	uncertain significance
rs149253968	15:86,737,046	G/A	intron variant	—
rs79987050	15:86,768,135	C/T	—	benign
rs768610169	15:86,768,152	A/G	—	uncertain significance
rs370819428	15:86,790,909	C/G	—	uncertain significance
rs375019409	15:86,790,913	C/T	—	uncertain significance
rs1597619015	15:86,790,971	A/G	—	uncertain significance
rs149477284	15:86,790,997	A/G	—	benign
rs374832275	15:86,791,048	C/T	—	uncertain significance
rs2078746661	15:86,791,063	G/C	—	uncertain significance
rs184824180	15:86,791,114	G/A	—	likely benign
rs1353664602	15:86,800,133	A/C	—	uncertain significance
rs185896474	15:86,800,154	C/T	—	benign
rs2505390245	15:86,800,174	G/T	—	uncertain significance
rs773077463	15:86,801,201	T/C	—	uncertain significance
rs548411308	15:86,801,225	T/G	—	uncertain significance
rs2505397155	15:86,801,227	G/T	—	uncertain significance
rs192090714	15:86,801,261	A/G	—	uncertain significance
rs745458688	15:86,806,024	A/T	—	uncertain significance
rs2079014273	15:86,806,058	T/G	—	uncertain significance
rs1355405401	15:86,806,066	C/A	—	uncertain significance
rs2505423776	15:86,806,093	G/T	—	uncertain significance
rs201130765	15:86,807,504	C/G	—	likely benign
rs1453917685	15:86,807,531	A/G	—	uncertain significance
rs1451106042	15:86,807,561	G/C	—	uncertain significance
rs1418271607	15:86,807,571	C/A	—	uncertain significance
rs1181390194	15:86,807,613	G/C	—	uncertain significance
rs753864298	15:86,807,636	C/G	—	uncertain significance
rs765116168	15:86,807,651	T/C	—	uncertain significance
rs781525434	15:86,807,672	T/A	—	uncertain significance
rs371810143	15:86,807,736	A/G	—	uncertain significance
rs374845151	15:86,807,752	T/G	—	uncertain significance
rs2505435566	15:86,807,759	G/A	—	uncertain significance
rs2505435865	15:86,807,778	T/A	—	uncertain significance
rs2505435879	15:86,807,781	A/T	—	uncertain significance
rs780685885	15:86,807,810	G/A	—	likely benign
rs772347188	15:86,807,841	C/A	—	uncertain significance
rs2079044219	15:86,807,853	A/C	—	uncertain significance
rs771044459	15:86,807,856	C/G	—	uncertain significance
rs766018404	15:86,807,900	C/A	—	uncertain significance
rs1483043808	15:86,807,931	A/G	—	uncertain significance
rs1471986315	15:86,807,940	T/C	—	uncertain significance
rs184053635	15:86,807,970	C/G	—	uncertain significance
rs200845665	15:86,807,993	G/T	—	uncertain significance
rs2079047503	15:86,808,022	C/G	—	likely benign
rs1417310318	15:86,808,023	C/A	—	uncertain significance
rs143113232	15:86,808,043	G/T	—	benign
rs2505439997	15:86,808,056	T/C	—	uncertain significance
rs762142221	15:86,809,623	T/C	—	likely benign
rs577916222	15:86,809,627	C/T	—	uncertain significance
rs750596858	15:86,809,628	G/A	—	uncertain significance
rs1193779789	15:86,810,244	A/G	—	uncertain significance
rs2505453921	15:86,810,246	T/A	—	uncertain significance
rs369016709	15:86,810,252	C/T	—	uncertain significance
rs373676885	15:86,810,253	G/A	—	likely benign
rs763189229	15:86,810,300	G/C	—	uncertain significance
rs371664737	15:86,810,304	G/A	—	uncertain significance
rs760676528	15:86,813,154	G/A	—	uncertain significance
rs180793760	15:86,813,226	G/A	—	uncertain significance
rs200404641	15:86,813,229	A/G	—	uncertain significance
rs377383541	15:86,813,236	C/T	—	uncertain significance
rs755553306	15:86,813,237	G/A	—	likely benign
rs899999927	15:86,813,282	C/A	—	uncertain significance
rs374208403	15:86,814,852	A/T	—	uncertain significance
rs766973494	15:86,814,906	A/T	—	uncertain significance
rs148822619	15:86,822,880	C/T	—	likely benign
rs752713983	15:86,822,967	G/A	—	uncertain significance
rs2505583142	15:86,838,489	C/T	—	uncertain significance
rs1220232147	15:86,838,517	A/G	—	uncertain significance
rs1283614487	15:86,838,597	G/T	—	uncertain significance
rs200042668	15:86,838,634	A/G	—	uncertain significance
rs10152811	15:86,854,590	A/C	intron variant	—
rs12901001	15:86,859,476	A/T	—	—
rs55645405	15:86,923,554	C/T	intron variant	—
rs199888818	15:86,940,644	A/G	—	uncertain significance
rs200431794	15:86,940,679	G/T	—	likely benign
rs780292382	15:86,940,686	G/T	—	uncertain significance
rs2081385471	15:86,940,717	G/A	—	uncertain significance
rs770839838	15:86,940,721	A/C	—	uncertain significance
rs143522733	15:86,940,763	T/C	—	likely benign
rs16977195	15:86,984,240	A/G	intron variant	—
rs8041122	15:87,000,510	T/A	intron variant	—
rs2011905	15:87,053,846	G/T	intron variant	—
rs12591257	15:87,064,089	A/C	intron variant	—
rs536557576	15:87,066,069	T/A	—	uncertain significance
rs201523870	15:87,066,094	G/A	—	likely benign
rs770503705	15:87,066,130	G/C	—	uncertain significance
rs1056793244	15:87,089,357	A/G	—	likely benign
rs765982956	15:87,097,595	C/T	—	uncertain significance
rs2505286510	15:87,097,676	A/G	—	uncertain significance
rs1341827307	15:87,097,692	T/A	—	uncertain significance
rs147523021	15:87,097,700	G/C	—	likely benign

Showing 100 of 121 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.