SPTBN1

spectrin beta, non-erythrocytic 1

Summary

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants277 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4305309	2:54,683,711	T/C	regulatory region variant	—
rs11898505	2:54,684,557	A/G	regulatory region variant	—
rs79228621	2:54,711,468	G/C	intron variant	—
rs4557020	2:54,718,181	T/A	—	—
rs75243511	2:54,738,168	T/C	intron variant	—
rs4671222	2:54,741,020	C/G	—	—
rs1670821258	2:54,753,587	A/G	—	uncertain significance
rs779865142	2:54,753,626	G/A	—	uncertain significance
rs111350284	2:54,753,660	C/T	—	likely benign
rs921219631	2:54,753,668	G/A	—	uncertain significance
rs2104324419	2:54,753,685	C/T	—	uncertain significance
rs4514918	2:54,760,820	T/A	—	—
rs149660479	2:54,781,601	T/G	intron variant	—
rs10208219	2:54,806,047	G/A	intron variant	—
rs10208225	2:54,806,049	G/A	intron variant	—
rs12713268	2:54,808,845	C/T	—	—
rs4519566	2:54,824,815	G/T	—	—
rs2549468220	2:54,826,245	G/C	—	likely benign
rs2549468222	2:54,826,256	C/G	—	pathogenic
rs201537275	2:54,826,289	G/A	—	uncertain significance
rs1377569267	2:54,826,300	C/T	—	uncertain significance
rs1553338193	2:54,826,339	A/T	—	uncertain significance
rs2549494510	2:54,839,325	A/T	—	likely benign
rs2549494517	2:54,839,327	C/G	—	uncertain significance
rs200136972	2:54,839,333	C/T	—	likely benign
rs1037594763	2:54,839,397	G/C	—	uncertain significance
rs2549494701	2:54,839,427	C/T	—	uncertain significance
rs2103798729	2:54,839,466	T/G	—	uncertain significance
rs12467581	2:54,840,552	C/G	regulatory region variant	—
rs2549502583	2:54,843,343	G/A	—	likely pathogenic
rs2549502622	2:54,843,354	T/C	—	uncertain significance
rs2549502693	2:54,843,380	G/C	—	uncertain significance
rs2549502736	2:54,843,408	T/C	—	uncertain significance
rs2549502760	2:54,843,415	G/T	—	uncertain significance
rs2103829031	2:54,843,418	C/A	—	pathogenic
rs929363603	2:54,843,422	A/T	—	uncertain significance
rs754107495	2:54,844,759	A/G	—	uncertain significance
rs2103838550	2:54,844,764	C/T	—	likely pathogenic
rs886231050	2:54,844,781	C/G	—	uncertain significance
rs2229506	2:54,844,790	C/T	—	benign
rs1572690133	2:54,844,791	G/A	—	uncertain significance
rs2103838734	2:54,844,792	G/A	—	pathogenic
rs756750187	2:54,844,794	A/G	—	uncertain significance
rs780512831	2:54,844,804	A/G	—	uncertain significance
rs1662229037	2:54,844,819	A/G	—	uncertain significance
rs1677695509	2:54,844,824	C/T	—	uncertain significance
rs1201141791	2:54,844,825	G/A	—	uncertain significance
rs2549506346	2:54,845,233	T/A	—	uncertain significance
rs1199797472	2:54,845,244	A/G	—	uncertain significance
rs760099132	2:54,845,255	G/A	—	uncertain significance
rs752488873	2:54,845,285	C/G	—	uncertain significance
rs776027586	2:54,845,315	C/G	—	likely pathogenic
rs2103842476	2:54,845,316	T/G	—	pathogenic
rs2549506563	2:54,845,319	T/C	—	likely pathogenic
rs141959769	2:54,848,533	A/G	—	likely benign
rs1346058982	2:54,848,545	G/A	—	uncertain significance
rs2103866356	2:54,848,576	C/G	—	pathogenic
rs2103866400	2:54,848,584	G/A	—	likely pathogenic
rs2549511876	2:54,848,638	C/T	—	pathogenic
rs1678045192	2:54,849,450	C/G	—	uncertain significance
rs2549513621	2:54,849,492	C/T	—	uncertain significance
rs2549513674	2:54,849,512	A/G	—	uncertain significance
rs2549513689	2:54,849,520	A/C	—	uncertain significance
rs748951777	2:54,849,603	G/C	—	likely pathogenic
rs2549513931	2:54,849,623	A/G	—	uncertain significance
rs2549515583	2:54,850,623	G/A	—	uncertain significance
rs1284851049	2:54,850,684	A/G	—	uncertain significance
rs2549515707	2:54,850,692	T/C	—	uncertain significance
rs774587397	2:54,850,697	G/T	—	uncertain significance
rs1678222579	2:54,851,984	C/T	—	likely benign
rs772259760	2:54,852,086	G/A	—	uncertain significance
rs201571724	2:54,853,087	C/T	—	uncertain significance
rs1039249066	2:54,853,090	C/T	—	uncertain significance
rs2549520186	2:54,853,156	C/T	—	likely pathogenic
rs2228366	2:54,853,197	C/T	—	benign
rs2103898844	2:54,853,198	G/C	—	likely pathogenic
rs960472054	2:54,853,199	A/G	—	uncertain significance
rs1678303092	2:54,853,219	C/T	—	uncertain significance
rs1225971103	2:54,853,220	G/A	—	uncertain significance
rs201568567	2:54,853,280	G/A	—	uncertain significance
rs140411223	2:54,853,300	G/A	—	uncertain significance
rs1295747178	2:54,853,362	T/A	—	uncertain significance
rs142695533	2:54,855,230	A/G	—	benign
rs549681124	2:54,855,247	C/G	—	uncertain significance
rs753086001	2:54,855,274	G/A	—	uncertain significance
rs1678478046	2:54,855,296	G/A	—	likely benign
rs2549523534	2:54,855,301	C/T	—	uncertain significance
rs745456074	2:54,855,306	G/A	—	uncertain significance
rs372321379	2:54,855,338	G/A	—	likely benign
rs375130631	2:54,855,359	C/T	—	likely benign
rs765805170	2:54,855,381	G/A	—	uncertain significance
rs369315226	2:54,856,100	G/A	—	likely benign
rs2103921906	2:54,856,111	G/A	—	uncertain significance
rs2549525393	2:54,856,193	G/A	—	likely pathogenic
rs775458851	2:54,856,224	A/G	—	likely benign
rs745680989	2:54,856,231	A/G	—	likely benign
rs768841140	2:54,856,246	A/C	—	uncertain significance
rs762355293	2:54,856,287	C/G	—	uncertain significance
rs978175840	2:54,856,320	C/T	—	likely benign
rs2549525926	2:54,856,357	C/T	—	likely pathogenic

Showing 100 of 277 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.