SPTBN4

spectrin beta, non-erythrocytic 4

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 localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants358 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs34004825	19:40,978,453	A/G	—	benign
rs144020509	19:40,978,539	T/C	—	uncertain significance
rs910610977	19:40,978,570	G/A	—	likely benign
rs765751602	19:40,978,590	C/T	—	likely benign
rs548831212	19:40,978,592	G/A	—	uncertain significance
rs146428235	19:40,978,599	G/A	—	uncertain significance
rs1200592638	19:40,978,611	C/T	—	uncertain significance
rs770792509	19:40,978,616	C/G	—	uncertain significance
rs372051643	19:40,978,628	C/T	—	uncertain significance
rs73931308	19:40,978,640	G/A	—	benign
rs201023290	19:40,978,643	G/T	—	uncertain significance
rs150447798	19:40,978,644	C/T	—	likely benign
rs377262825	19:40,978,656	C/T	—	uncertain significance
rs966255951	19:40,978,686	A/G	—	uncertain significance
rs1166037726	19:40,978,688	G/A	—	uncertain significance
rs62106997	19:40,978,760	C/T	—	benign
rs4306639	19:40,978,869	A/C	—	benign
rs117119201	19:40,993,416	T/C	—	benign
rs2080088634	19:40,993,649	A/G	—	uncertain significance
rs148022541	19:40,993,659	C/T	—	likely benign
rs527763445	19:40,993,746	G/A	—	likely benign
rs77789750	19:40,995,771	T/A	—	benign
rs140501982	19:40,996,008	G/A	—	benign
rs367782742	19:40,996,060	C/T	—	uncertain significance
rs2514932178	19:40,996,115	T/G	—	uncertain significance
rs776576123	19:40,998,883	A/G	—	uncertain significance
rs377149796	19:40,998,912	C/T	—	uncertain significance
rs114996560	19:41,000,717	A/G	—	benign
rs62107049	19:41,003,193	C/T	—	benign
rs1444098366	19:41,003,396	G/C	—	uncertain significance
rs780665830	19:41,003,397	C/G	—	uncertain significance
rs376321398	19:41,003,406	G/A	—	uncertain significance
rs749306348	19:41,003,421	C/A	—	uncertain significance
rs770980247	19:41,003,431	C/T	—	uncertain significance
rs199628224	19:41,003,435	T/A	—	uncertain significance
rs201930650	19:41,003,443	A/G	—	uncertain significance
rs370960966	19:41,003,464	G/C	—	likely pathogenic
rs1568776196	19:41,003,485	G/C	—	uncertain significance
rs200954322	19:41,003,493	C/A	—	likely benign
rs767215372	19:41,003,494	G/A	—	uncertain significance
rs2514978493	19:41,007,859	C/T	—	likely benign
rs2514978940	19:41,007,929	C/T	—	uncertain significance
rs748562423	19:41,007,935	G/A	—	uncertain significance
rs814526	19:41,008,049	A/G	—	benign
rs144787579	19:41,008,068	A/T	—	conflicting classifications of pathogenicity
rs576794471	19:41,008,071	G/A	—	likely benign
rs750212447	19:41,008,090	C/T	—	uncertain significance
rs148551169	19:41,008,145	A/G	—	likely benign
rs117958811	19:41,008,178	A/G	—	benign
rs752752948	19:41,008,193	G/A	—	likely benign
rs748767389	19:41,008,365	G/A	—	uncertain significance
rs370786781	19:41,008,367	C/T	—	conflicting classifications of pathogenicity
rs369222130	19:41,008,368	G/A	—	uncertain significance
rs2514982333	19:41,008,384	G/C	—	likely benign
rs769834825	19:41,008,744	T/G	—	uncertain significance
rs1444819723	19:41,008,745	C/T	—	uncertain significance
rs2514985046	19:41,008,764	T/A	—	uncertain significance
rs775809176	19:41,008,782	A/G	—	uncertain significance
rs756154554	19:41,008,827	G/A	—	uncertain significance
rs368700485	19:41,009,759	C/G	—	uncertain significance
rs544695151	19:41,009,761	G/A	—	uncertain significance
rs139202803	19:41,009,797	G/A	—	uncertain significance
rs2514989743	19:41,009,807	T/C	—	uncertain significance
rs373750183	19:41,009,808	T/C	—	likely benign
rs750512662	19:41,009,810	C/T	—	uncertain significance
rs267605489	19:41,009,818	G/A	—	uncertain significance
rs545119009	19:41,009,840	C/T	—	uncertain significance
rs993137906	19:41,009,841	G/A	—	likely benign
rs771777542	19:41,009,865	C/T	—	likely benign
rs371796026	19:41,009,870	G/A	—	uncertain significance
rs765087147	19:41,009,885	G/A	—	uncertain significance
rs758315937	19:41,009,888	G/A	—	uncertain significance
rs375046488	19:41,009,911	G/A	—	likely benign
rs775168370	19:41,009,932	C/G	—	uncertain significance
rs746477778	19:41,009,944	G/T	—	uncertain significance
rs149945999	19:41,009,951	C/G	—	uncertain significance
rs372472584	19:41,009,956	C/T	—	uncertain significance
rs1114167445	19:41,009,971	C/T	stop gained	pathogenic
rs71358911	19:41,009,982	T/C	—	benign
rs10420988	19:41,010,045	G/T	—	benign
rs843779	19:41,010,047	C/T	—	likely benign
rs565646625	19:41,010,048	G/T	—	likely benign
rs759387793	19:41,010,049	G/C	—	likely benign
rs75488411	19:41,012,097	C/T	—	benign
rs199969159	19:41,012,135	G/A	—	likely benign
rs147689079	19:41,012,158	C/T	—	uncertain significance
rs768911356	19:41,012,159	G/A	—	uncertain significance
rs763173248	19:41,012,178	G/A	—	likely benign
rs7258094	19:41,012,190	C/T	—	benign
rs369390989	19:41,012,232	C/T	—	likely benign
rs377199238	19:41,012,233	G/A	—	uncertain significance
rs370654941	19:41,012,250	G/A	—	likely benign
rs201912232	19:41,012,266	G/A	—	uncertain significance
rs148286750	19:41,012,275	C/T	—	uncertain significance
rs2080330778	19:41,012,290	C/T	—	pathogenic
rs2080404297	19:41,018,602	C/T	—	likely pathogenic
rs781131510	19:41,018,608	G/A	—	uncertain significance
rs541135152	19:41,018,661	G/A	—	likely benign
rs1411115333	19:41,018,730	A/G	—	likely benign
rs2515028206	19:41,018,755	G/A	—	uncertain significance

Showing 100 of 358 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.