POC1B

POC1 centriolar protein B

Summary

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Known Variants291 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs61748629	12:89,814,934	C/A	—	benign
rs2120629891	12:89,814,936	T/G	—	uncertain significance
rs759665142	12:89,814,942	T/G	—	uncertain significance
rs544379697	12:89,814,948	A/G	—	likely benign
rs1466342702	12:89,814,953	T/G	—	uncertain significance
rs371878470	12:89,814,958	A/G	—	uncertain significance
rs746717229	12:89,814,969	A/G	—	likely benign
rs1333988178	12:89,815,001	T/A	—	uncertain significance
rs2540356303	12:89,815,002	C/T	—	likely benign
rs143659653	12:89,815,009	A/T	—	uncertain significance
rs200082142	12:89,815,012	C/T	—	uncertain significance
rs2120630653	12:89,815,017	C/T	—	likely benign
rs761771315	12:89,815,041	A/G	—	likely benign
rs746026298	12:89,818,918	G/A	—	likely benign
rs199852870	12:89,818,925	G/C	—	likely benign
rs1452525918	12:89,818,933	C/T	—	conflicting classifications of pathogenicity
rs1555215866	12:89,818,939	T/C	—	uncertain significance
rs1555215870	12:89,818,954	A/G	—	uncertain significance
rs570958164	12:89,818,958	G/A	—	pathogenic
rs762984182	12:89,818,970	G/C	—	uncertain significance
rs2120651305	12:89,818,975	A/T	—	pathogenic
rs539980702	12:89,818,980	A/C	—	uncertain significance
rs553428980	12:89,818,985	T/C	—	uncertain significance
rs777371599	12:89,818,991	C/T	—	uncertain significance
rs754250226	12:89,818,992	G/A	—	likely benign
rs2540364528	12:89,818,996	G/C	—	uncertain significance
rs757794354	12:89,818,999	A/G	—	uncertain significance
rs201071027	12:89,819,011	C/G	—	conflicting classifications of pathogenicity
rs2540364671	12:89,819,025	G/A	—	likely benign
rs2540364676	12:89,819,027	C/T	—	uncertain significance
rs1321325953	12:89,819,029	C/A	—	uncertain significance
rs747299500	12:89,819,031	C/T	—	uncertain significance
rs768581613	12:89,819,032	A/G	—	uncertain significance
rs762745144	12:89,819,052	C/T	—	likely benign
rs770860408	12:89,819,053	G/A	—	uncertain significance
rs774341328	12:89,819,054	T/A	—	uncertain significance
rs138358967	12:89,819,068	C/T	—	uncertain significance
rs1880716788	12:89,819,070	T/C	—	likely benign
rs767339093	12:89,819,071	T/C	—	uncertain significance
rs2540364927	12:89,819,097	G/A	—	likely benign
rs753389405	12:89,819,114	C/T	—	uncertain significance
rs1379680343	12:89,819,129	G/A	—	uncertain significance
rs1880720671	12:89,819,137	C/A	—	uncertain significance
rs2540365137	12:89,819,141	C/T	—	uncertain significance
rs2540365142	12:89,819,144	T/G	—	uncertain significance
rs142456398	12:89,819,151	T/C	—	likely benign
rs780599840	12:89,819,156	T/C	—	uncertain significance
rs76714924	12:89,819,166	T/C	—	likely benign
rs10777162	12:89,830,523	A/G	intron variant	—
rs10777164	12:89,831,594	A/G	intron variant	—
rs4842655	12:89,838,009	A/G	intron variant	—
rs4842657	12:89,838,087	T/C	—	—
rs7299091	12:89,846,825	T/A	intron variant	—
rs7308380	12:89,851,232	A/T	—	—
rs1344684	12:89,852,672	A/G	intron variant	—
rs776200884	12:89,853,398	A/C	—	likely benign
rs761382864	12:89,853,399	A/C	—	likely benign
rs764877524	12:89,853,400	A/C	—	likely benign
rs758999483	12:89,853,401	A/C	—	likely benign
rs766796808	12:89,853,404	A/C	—	likely benign
rs751961275	12:89,853,405	C/A	—	likely benign
rs4842658	12:89,853,408	G/A	—	benign
rs2540423431	12:89,853,421	A/G	—	likely benign
rs1592601579	12:89,853,436	G/T	—	likely benign
rs140241110	12:89,853,443	A/G	—	likely benign
rs745746898	12:89,853,444	T/G	—	uncertain significance
rs375679848	12:89,853,445	A/T	—	likely benign
rs1175914378	12:89,853,450	G/A	—	uncertain significance
rs1349050899	12:89,853,458	G/A	—	uncertain significance
rs1219402263	12:89,853,460	G/A	—	likely benign
rs941942035	12:89,853,462	T/A	—	uncertain significance
rs768381792	12:89,853,471	C/T	—	uncertain significance
rs776312438	12:89,853,474	T/A	—	uncertain significance
rs369151825	12:89,853,498	G/A	—	uncertain significance
rs2120805123	12:89,853,509	T/C	—	likely benign
rs1882698167	12:89,860,535	C/G	—	likely benign
rs759980932	12:89,860,543	T/C	—	uncertain significance
rs566190697	12:89,860,544	C/T	—	uncertain significance
rs1882699601	12:89,860,556	C/G	—	uncertain significance
rs767863964	12:89,860,567	C/T	—	uncertain significance
rs139226294	12:89,860,573	G/T	—	uncertain significance
rs757325564	12:89,860,580	T/C	—	likely benign
rs141543185	12:89,860,589	T/C	—	benign
rs2540436028	12:89,860,590	G/C	—	uncertain significance
rs754888145	12:89,860,592	G/T	—	likely pathogenic
rs780977321	12:89,860,596	A/G	—	uncertain significance
rs1882705084	12:89,860,612	G/A	—	uncertain significance
rs2540436148	12:89,860,613	T/C	—	likely benign
rs377341310	12:89,860,628	T/C	—	likely benign
rs746318136	12:89,860,656	C/T	—	conflicting classifications of pathogenicity
rs2540436312	12:89,860,667	C/T	—	likely benign
rs776033960	12:89,860,672	C/T	—	uncertain significance
rs1882706899	12:89,860,685	C/T	—	likely benign
rs2120831286	12:89,860,692	A/C	—	pathogenic
rs1882707280	12:89,860,693	A/G	—	likely benign
rs758399671	12:89,860,697	G/C	—	likely benign
rs1382687142	12:89,860,703	T/A	—	likely benign
rs959648237	12:89,860,704	G/T	—	likely benign
rs561351619	12:89,860,706	A/G	—	likely benign
rs770171340	12:89,861,374	G/C	—	likely benign

Showing 100 of 291 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.