SF3B1

splicing factor 3b subunit 1

Summary

This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants44 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs150226353	2:198,257,036	A/G	—	benign
rs78516934	2:198,257,075	G/A	—	benign
rs4685	2:198,257,795	T/C	—	benign
rs187695756	2:198,257,920	G/A	—	benign
rs3115366	2:198,258,388	G/A	intron variant	—
rs2469932160	2:198,262,740	T/C	—	uncertain significance
rs111736429	2:198,262,759	A/G	—	likely benign
rs34532346	2:198,263,223	T/C	—	likely benign
rs202052494	2:198,264,771	T/C	—	likely benign
rs199700456	2:198,264,861	T/C	—	likely benign
rs788018	2:198,265,526	A/G	—	benign
rs2084930929	2:198,265,570	G/A	—	uncertain significance
rs755415626	2:198,266,611	C/T	missense variant	—
rs1574528840	2:198,266,821	A/C	—	uncertain significance
rs760147216	2:198,266,825	T/G	—	uncertain significance
rs16865307	2:198,266,828	G/T	—	benign
rs1057519755	2:198,266,832	T/A	missense variant	—
rs1057519756	2:198,266,833	T/G	missense variant	—
rs559063155	2:198,266,834	T/C	missense variant	pathogenic
rs3764989	2:198,266,862	A/T	—	likely benign
rs377023736	2:198,267,359	C/G	missense variant	pathogenic
rs374250186	2:198,267,360	T/C	missense variant	uncertain significance
rs754688962	2:198,267,361	T/G	missense variant	—
rs1057519961	2:198,267,483	C/T	missense variant	pathogenic
rs775623976	2:198,267,484	G/A	missense variant	uncertain significance
rs35493573	2:198,270,017	T/C	—	benign
rs2469954663	2:198,270,075	T/C	—	uncertain significance
rs71422649	2:198,272,767	T/G	—	benign
rs144644361	2:198,272,806	A/C	—	likely benign
rs1453713923	2:198,272,814	G/T	—	uncertain significance
rs587778679	2:198,273,243	T/C	—	not provided
rs13012433	2:198,274,567	C/T	—	likely benign
rs2469966739	2:198,274,571	T/C	—	uncertain significance
rs3097384	2:198,278,834	T/G	—	—
rs183607074	2:198,281,459	A/T	—	benign
rs35548172	2:198,281,489	T/C	—	benign
rs139823279	2:198,281,581	C/T	—	uncertain significance
rs151054475	2:198,283,266	A/G	—	benign
rs788023	2:198,283,305	T/C	—	benign
rs2085221774	2:198,285,150	A/C	—	uncertain significance
rs2085234371	2:198,285,846	G/C	—	uncertain significance
rs774397512	2:198,288,564	C/T	—	uncertain significance
rs148811717	2:198,288,565	G/A	—	likely benign
rs529325506	2:198,293,671	G/T	—	—

Gene information from NCBI Gene. Variant classifications from ClinVar.