CERKL

CERK like autophagy regulator

Summary

This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]

Known Variants709 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2368213	2:182,401,388	C/T	—	likely benign
rs984330083	2:182,401,540	G/A	—	uncertain significance
rs2368214	2:182,401,566	C/T	—	benign
rs11553355	2:182,401,587	C/T	—	uncertain significance
rs886055313	2:182,401,695	C/T	—	uncertain significance
rs138526637	2:182,401,699	T/C	—	uncertain significance
rs189163426	2:182,401,704	G/C	—	uncertain significance
rs1047307	2:182,401,752	G/A	—	benign
rs200646302	2:182,401,853	A/C	—	uncertain significance
rs78381893	2:182,401,866	C/T	—	uncertain significance
rs16867441	2:182,401,867	G/A	—	uncertain significance
rs192210010	2:182,401,888	C/T	—	uncertain significance
rs200370399	2:182,401,932	G/A	—	uncertain significance
rs116322351	2:182,401,996	G/C	—	uncertain significance
rs1037623	2:182,402,031	C/T	—	benign
rs886055314	2:182,402,042	G/A	—	uncertain significance
rs886055315	2:182,402,131	A/G	—	uncertain significance
rs201433997	2:182,402,168	C/T	—	uncertain significance
rs188892870	2:182,402,338	T/C	—	uncertain significance
rs10490690	2:182,402,344	A/G	—	uncertain significance
rs193186986	2:182,402,439	T/A	—	likely benign
rs201131211	2:182,402,459	C/T	—	uncertain significance
rs12614187	2:182,402,491	C/T	—	benign
rs77496071	2:182,402,564	T/C	—	benign
rs115260661	2:182,402,581	G/A	—	uncertain significance
rs748428407	2:182,402,605	G/A	—	uncertain significance
rs148226735	2:182,402,616	C/T	—	uncertain significance
rs758328553	2:182,402,674	C/T	—	uncertain significance
rs185476460	2:182,402,751	A/C	—	uncertain significance
rs6747500	2:182,402,790	A/G	—	benign
rs766876969	2:182,402,797	T/C	—	uncertain significance
rs886055317	2:182,402,819	C/G	—	uncertain significance
rs1574424314	2:182,402,834	C/A	—	uncertain significance
rs368851275	2:182,402,886	C/A	—	uncertain significance
rs1687284904	2:182,402,912	T/A	—	uncertain significance
rs752334385	2:182,402,914	C/T	—	conflicting classifications of pathogenicity
rs1559065823	2:182,402,917	T/A	—	likely benign
rs763552735	2:182,402,918	G/A	—	uncertain significance
rs1383978173	2:182,402,921	A/G	—	uncertain significance
rs2468264049	2:182,402,928	C/A	—	uncertain significance
rs1687289037	2:182,402,929	T/C	—	likely benign
rs753367773	2:182,402,931	C/T	—	uncertain significance
rs1574424736	2:182,402,941	T/C	—	likely benign
rs1278226911	2:182,402,944	A/C	—	likely pathogenic
rs1201433512	2:182,402,946	A/C	—	conflicting classifications of pathogenicity
rs2468264171	2:182,402,948	A/G	—	uncertain significance
rs1687293393	2:182,402,953	G/A	—	likely benign
rs141723283	2:182,402,954	A/G	—	uncertain significance
rs1238264534	2:182,402,956	A/C	—	likely benign
rs2105784397	2:182,402,958	G/A	—	uncertain significance
rs1687294615	2:182,402,962	T/G	—	uncertain significance
rs781416914	2:182,402,967	G/A	—	uncertain significance
rs577490028	2:182,402,969	A/G	—	uncertain significance
rs910844553	2:182,402,970	A/G	—	likely benign
rs539464631	2:182,402,974	G/T	—	uncertain significance
rs371788033	2:182,402,976	A/T	—	conflicting classifications of pathogenicity
rs1559065992	2:182,402,977	A/C	—	likely benign
rs2105784500	2:182,402,980	A/T	—	likely benign
rs1559066011	2:182,402,981	A/C	—	likely benign
rs2105784521	2:182,402,982	A/T	—	likely benign
rs1401135544	2:182,402,983	A/T	—	likely benign
rs1559066021	2:182,402,984	T/G	—	likely benign
rs2105784540	2:182,402,985	A/T	—	likely benign
rs1005920378	2:182,402,986	C/T	—	likely benign
rs1016582691	2:182,402,987	A/T	—	likely benign
rs749423367	2:182,402,991	T/G	—	likely benign
rs200204457	2:182,403,799	G/A	—	likely benign
rs2468268210	2:182,403,800	G/A	—	likely benign
rs2468268214	2:182,403,802	G/A	—	likely benign
rs753314591	2:182,403,808	A/G	—	likely benign
rs756827673	2:182,403,810	T/C	—	likely benign
rs1356370514	2:182,403,811	A/G	—	likely benign
rs1211573673	2:182,403,812	G/C	—	likely benign
rs2468268289	2:182,403,815	T/G	—	uncertain significance
rs75317760	2:182,403,818	C/T	—	uncertain significance
rs1456624724	2:182,403,819	C/T	—	uncertain significance
rs1194183386	2:182,403,824	A/G	—	likely benign
rs755472414	2:182,403,825	T/A	—	uncertain significance
rs2468268354	2:182,403,827	G/C	—	likely benign
rs146913105	2:182,403,834	G/A	—	conflicting classifications of pathogenicity
rs2105786826	2:182,403,842	T/C	—	likely benign
rs10180793	2:182,403,851	G/A	—	benign
rs141656965	2:182,403,857	A/G	—	conflicting classifications of pathogenicity
rs1424551188	2:182,403,858	T/G	—	uncertain significance
rs771072583	2:182,403,859	C/T	—	uncertain significance
rs779134726	2:182,403,860	T/G	—	likely benign
rs2468268558	2:182,403,863	A/G	—	likely benign
rs1294330944	2:182,403,867	C/T	—	pathogenic
rs373370395	2:182,403,882	T/C	—	uncertain significance
rs768292284	2:182,403,891	G/C	—	conflicting classifications of pathogenicity
rs35955809	2:182,403,894	T/C	—	likely benign
rs188492864	2:182,403,895	C/A	—	pathogenic
rs2105787013	2:182,403,901	C/T	—	uncertain significance
rs770333200	2:182,403,902	C/T	—	likely benign
rs369866192	2:182,403,903	T/C	—	uncertain significance
rs146279858	2:182,403,905	C/G	—	conflicting classifications of pathogenicity
rs2105787039	2:182,403,911	T/C	—	likely benign
rs1459300740	2:182,403,912	G/A	—	uncertain significance
rs2468268817	2:182,403,914	A/G	—	likely benign
rs753105205	2:182,403,915	T/C	—	uncertain significance

Showing 100 of 709 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.