BFSP2

beaded filament structural protein 2

Summary

More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]

Known Variants109 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs73211832	3:133,118,572	C/T	—	benign
rs534216602	3:133,118,924	G/A	—	likely benign
rs886058007	3:133,118,932	G/A	—	uncertain significance
rs1224719314	3:133,118,940	C/T	—	uncertain significance
rs777311531	3:133,118,951	G/A	—	likely benign
rs2073348739	3:133,118,954	C/G	—	uncertain significance
rs141310092	3:133,118,978	C/T	—	likely benign
rs146992682	3:133,119,002	G/A	—	benign
rs200208769	3:133,119,027	T/C	—	conflicting classifications of pathogenicity
rs776840635	3:133,119,057	A/G	—	uncertain significance
rs145301682	3:133,119,082	G/A	—	uncertain significance
rs112142146	3:133,119,089	C/T	—	benign
rs756829125	3:133,119,090	G/A	—	conflicting classifications of pathogenicity
rs375248662	3:133,119,112	C/A	—	uncertain significance
rs1158694669	3:133,119,117	G/T	—	uncertain significance
rs768699867	3:133,119,123	A/G	—	uncertain significance
rs773577959	3:133,119,142	G/A	—	uncertain significance
rs766843026	3:133,119,150	C/T	—	uncertain significance
rs142499840	3:133,119,154	G/A	—	conflicting classifications of pathogenicity
rs2529403104	3:133,119,159	C/A	—	uncertain significance
rs756814292	3:133,119,162	G/A	—	uncertain significance
rs145934653	3:133,119,173	T/C	—	benign
rs1349351627	3:133,119,181	T/A	—	uncertain significance
rs957602637	3:133,119,189	C/A	—	uncertain significance
rs200369728	3:133,119,192	C/T	—	uncertain significance
rs748115575	3:133,119,212	C/T	—	benign
rs762574725	3:133,119,276	G/A	—	uncertain significance
rs139476224	3:133,119,293	G/A	—	benign
rs34163197	3:133,119,296	C/T	—	benign
rs754811534	3:133,119,297	G/A	—	conflicting classifications of pathogenicity
rs185816798	3:133,119,306	C/G	—	likely benign
rs373365813	3:133,119,323	G/A	—	uncertain significance
rs80176276	3:133,119,337	G/A	—	benign
rs886058009	3:133,119,349	A/C	—	uncertain significance
rs144399466	3:133,119,363	C/T	—	benign
rs148759360	3:133,119,364	G/T	—	likely benign
rs759174901	3:133,119,372	A/G	—	uncertain significance
rs1221754175	3:133,119,376	G/A	—	pathogenic
rs142404860	3:133,119,385	T/A	—	uncertain significance
rs756099408	3:133,119,388	G/T	—	uncertain significance
rs679749	3:133,119,626	A/G	—	benign
rs553211	3:133,119,702	A/G	—	benign
rs112518744	3:133,119,730	G/A	—	benign
rs113354173	3:133,165,861	A/G	—	likely benign
rs371537108	3:133,166,153	C/T	—	likely benign
rs375380005	3:133,166,188	C/T	—	conflicting classifications of pathogenicity
rs375822049	3:133,166,193	C/T	—	likely benign
rs760489012	3:133,166,221	G/A	—	uncertain significance
rs886058010	3:133,166,238	A/G	—	uncertain significance
rs7644197	3:133,166,403	A/G	—	benign
rs75186898	3:133,167,117	G/A	—	benign
rs2073924367	3:133,167,338	A/G	—	uncertain significance
rs2276737	3:133,167,363	A/G	—	benign
rs199755934	3:133,167,427	C/G	—	likely benign
rs754287032	3:133,167,443	A/G	—	uncertain significance
rs886058011	3:133,167,461	T/C	—	uncertain significance
rs1429291611	3:133,167,467	C/G	—	uncertain significance
rs376911067	3:133,167,480	C/T	—	benign
rs886058012	3:133,167,482	A/G	—	uncertain significance
rs2529576694	3:133,167,487	G/A	—	uncertain significance
rs9833847	3:133,168,824	G/A	—	benign
rs6809600	3:133,168,860	A/G	—	benign
rs141754953	3:133,169,081	T/G	—	likely benign
rs75746794	3:133,169,140	T/C	—	likely benign
rs149735452	3:133,169,207	A/G	—	uncertain significance
rs767108645	3:133,169,223	A/G	—	uncertain significance
rs757058933	3:133,169,262	A/G	—	uncertain significance
rs146257317	3:133,169,264	G/A	—	uncertain significance
rs104893685	3:133,169,276	C/A	synonymous variant	likely benign
rs190627417	3:133,169,278	G/A	—	uncertain significance
rs145444931	3:133,169,282	G/A	—	conflicting classifications of pathogenicity
rs200862865	3:133,169,284	G/C	—	uncertain significance
rs773755796	3:133,169,297	C/T	—	uncertain significance
rs199694156	3:133,169,305	T/G	—	likely benign
rs1322657204	3:133,185,542	G/A	—	likely benign
rs112755909	3:133,185,545	G/A	—	likely benign
rs17366213	3:133,185,655	G/C	—	likely benign
rs754118418	3:133,185,669	C/G	—	uncertain significance
rs1157387539	3:133,185,698	C/G	—	uncertain significance
rs983801868	3:133,185,713	G/C	—	uncertain significance
rs1302083960	3:133,185,727	C/A	—	uncertain significance
rs376508399	3:133,185,729	C/G	—	uncertain significance
rs146972354	3:133,185,734	G/T	—	likely benign
rs200573601	3:133,185,795	C/T	—	uncertain significance
rs2737717	3:133,185,834	C/T	—	benign
rs76215287	3:133,186,002	T/C	—	benign
rs899458	3:133,191,093	G/A	—	benign
rs746239628	3:133,191,223	A/G	—	uncertain significance
rs144693104	3:133,191,265	T/G	—	uncertain significance
rs576771761	3:133,191,276	G/A	—	uncertain significance
rs139944598	3:133,191,280	C/T	—	conflicting classifications of pathogenicity
rs774824478	3:133,191,301	C/A	—	benign
rs1259606966	3:133,191,303	G/A	—	uncertain significance
rs780450553	3:133,191,325	A/G	—	uncertain significance
rs1286198987	3:133,191,364	A/T	—	uncertain significance
rs79087781	3:133,191,385	A/C	—	benign
rs748778926	3:133,191,396	A/G	—	uncertain significance
rs2074175378	3:133,191,417	T/C	—	uncertain significance
rs7628499	3:133,191,453	A/G	—	benign
rs73861109	3:133,191,587	A/G	—	likely benign

Showing 100 of 109 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.