PCARE

photoreceptor cilium actin regulator

Summary

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

Known Variants891 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs72861014	2:29,284,672	T/C	—	uncertain significance
rs75634215	2:29,284,678	A/G	—	benign
rs188267834	2:29,284,685	G/A	—	uncertain significance
rs17007522	2:29,284,694	T/C	—	likely benign
rs747798677	2:29,284,695	G/A	—	uncertain significance
rs569687522	2:29,284,698	C/T	—	uncertain significance
rs541824167	2:29,284,699	G/A	—	uncertain significance
rs766320812	2:29,284,727	C/A	—	uncertain significance
rs11683284	2:29,284,806	A/G	—	benign
rs886055912	2:29,284,972	T/C	—	uncertain significance
rs10187620	2:29,284,981	C/T	—	benign
rs10185075	2:29,285,065	G/A	—	benign
rs539485807	2:29,285,083	A/G	—	uncertain significance
rs74992908	2:29,285,086	G/A	—	uncertain significance
rs116529628	2:29,285,106	C/T	—	benign
rs780734864	2:29,285,140	T/C	—	uncertain significance
rs7570356	2:29,285,150	T/C	—	benign
rs79961309	2:29,285,151	G/A	—	likely benign
rs140084891	2:29,285,156	G/T	—	uncertain significance
rs188247308	2:29,285,173	C/G	—	conflicting classifications of pathogenicity
rs545805260	2:29,285,177	G/A	—	uncertain significance
rs1211787095	2:29,285,189	C/T	—	uncertain significance
rs7607027	2:29,285,210	C/T	—	benign
rs761750223	2:29,285,223	C/T	—	uncertain significance
rs17692899	2:29,285,254	T/C	—	benign
rs543543846	2:29,285,293	C/T	—	uncertain significance
rs551398169	2:29,285,294	G/T	—	uncertain significance
rs553420408	2:29,285,352	C/T	—	uncertain significance
rs115478100	2:29,285,435	G/A	—	likely benign
rs1562394	2:29,285,442	C/G	—	likely benign
rs1562393	2:29,285,456	T/C	—	benign
rs77448535	2:29,285,526	C/T	—	likely benign
rs187757111	2:29,285,528	G/A	—	uncertain significance
rs1562392	2:29,285,575	C/T	—	benign
rs1562391	2:29,285,631	A/G	—	benign
rs1667329985	2:29,285,669	T/C	—	uncertain significance
rs4464231	2:29,285,713	C/T	—	benign
rs143205929	2:29,285,766	C/T	—	uncertain significance
rs1667333583	2:29,285,802	C/G	—	uncertain significance
rs151223779	2:29,285,805	G/A	—	uncertain significance
rs72861027	2:29,285,823	A/T	—	benign
rs886055913	2:29,285,870	C/T	—	uncertain significance
rs146988491	2:29,285,891	G/C	—	uncertain significance
rs115788507	2:29,285,937	G/A	—	uncertain significance
rs544366142	2:29,285,950	G/A	—	uncertain significance
rs114193888	2:29,285,987	A/G	—	likely benign
rs577941529	2:29,285,989	C/T	—	uncertain significance
rs138102302	2:29,285,993	C/G	—	likely benign
rs1040232674	2:29,286,021	C/T	—	uncertain significance
rs72788189	2:29,286,031	C/T	—	likely benign
rs1667337424	2:29,286,032	T/C	—	uncertain significance
rs770762342	2:29,286,049	G/T	—	uncertain significance
rs527244201	2:29,286,069	G/A	—	uncertain significance
rs958584	2:29,286,072	A/G	—	benign
rs72861029	2:29,286,134	C/T	—	likely benign
rs719691	2:29,286,193	C/T	—	benign
rs149247863	2:29,286,210	G/A	—	uncertain significance
rs886055914	2:29,286,218	C/T	—	uncertain significance
rs114274497	2:29,286,310	G/A	—	conflicting classifications of pathogenicity
rs57505815	2:29,286,364	T/C	—	benign
rs537457852	2:29,286,439	A/C	—	uncertain significance
rs886055915	2:29,286,457	G/T	—	uncertain significance
rs558252908	2:29,286,476	G/A	—	uncertain significance
rs59633688	2:29,286,509	C/T	—	benign
rs886055916	2:29,286,511	G/C	—	uncertain significance
rs74855521	2:29,286,536	C/G	—	uncertain significance
rs369999271	2:29,286,578	C/T	—	uncertain significance
rs115327633	2:29,286,590	C/T	—	likely benign
rs1006234504	2:29,286,595	A/G	—	uncertain significance
rs17007529	2:29,286,670	T/C	—	benign
rs36112528	2:29,286,685	A/G	—	uncertain significance
rs148591627	2:29,286,738	C/T	—	uncertain significance
rs563291434	2:29,286,747	G/C	—	uncertain significance
rs74315958	2:29,286,752	T/C	—	likely benign
rs76693332	2:29,286,753	G/A	—	uncertain significance
rs1667348222	2:29,286,782	C/T	—	uncertain significance
rs1192177517	2:29,286,806	C/T	—	uncertain significance
rs146133810	2:29,286,832	T/C	—	uncertain significance
rs886055917	2:29,286,861	C/T	—	uncertain significance
rs538810981	2:29,286,878	G/A	—	uncertain significance
rs13016696	2:29,286,905	G/T	—	benign
rs114774220	2:29,286,957	T/A	—	likely benign
rs116550481	2:29,287,049	T/A	—	likely benign
rs143745034	2:29,287,077	C/G	—	uncertain significance
rs886055918	2:29,287,136	C/T	—	uncertain significance
rs10495767	2:29,287,192	G/A	—	benign
rs10196859	2:29,287,227	T/C	—	benign
rs10194257	2:29,287,229	A/G	—	benign
rs757874160	2:29,287,261	A/G	—	uncertain significance
rs536100561	2:29,287,322	C/T	—	uncertain significance
rs531692702	2:29,287,323	G/A	—	uncertain significance
rs185127491	2:29,287,335	C/T	—	uncertain significance
rs571534411	2:29,287,336	G/A	—	uncertain significance
rs941674134	2:29,287,340	A/C	—	uncertain significance
rs886055919	2:29,287,444	C/G	—	uncertain significance
rs78759931	2:29,287,449	C/A	—	likely benign
rs189553973	2:29,287,452	C/T	—	uncertain significance
rs536483762	2:29,287,508	A/G	—	uncertain significance
rs968642049	2:29,287,531	C/A	—	uncertain significance
rs745626992	2:29,287,701	G/T	—	uncertain significance

Showing 100 of 891 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.