SEMA3F

semaphorin 3F

Summary

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Known Variants151 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2526389	3:50,192,826	C/T	regulatory region variant	—
rs2072054	3:50,196,623	A/C	—	—
rs201913041	3:50,197,064	C/T	—	likely benign
rs372829300	3:50,197,065	G/A	—	conflicting classifications of pathogenicity
rs201364829	3:50,197,067	C/T	—	likely benign
rs2072053	3:50,197,092	C/T	—	benign
rs1046953	3:50,197,097	T/C	—	benign
rs61751940	3:50,197,098	G/C	—	benign
rs140721147	3:50,197,110	T/C	—	likely benign
rs747082066	3:50,197,111	C/T	—	uncertain significance
rs747998403	3:50,197,135	C/T	—	uncertain significance
rs141286158	3:50,197,141	C/T	—	uncertain significance
rs150227868	3:50,197,142	G/A	—	likely benign
rs765808277	3:50,197,147	G/A	—	uncertain significance
rs2546049704	3:50,197,149	G/A	—	uncertain significance
rs149285597	3:50,197,152	C/T	—	uncertain significance
rs576886612	3:50,198,136	C/T	—	—
rs2624841	3:50,198,415	C/T	regulatory region variant	—
rs11710277	3:50,199,747	A/G	intron variant	—
rs184831006	3:50,207,329	G/C	upstream gene variant	—
rs1005678	3:50,210,289	C/T	—	—
rs554910139	3:50,210,625	G/T	—	—
rs112798318	3:50,211,220	C/T	—	benign
rs2546079704	3:50,211,238	C/T	—	uncertain significance
rs756077250	3:50,211,245	C/T	—	likely benign
rs1417671122	3:50,211,253	T/A	—	uncertain significance
rs770660254	3:50,211,254	C/A	—	uncertain significance
rs752763527	3:50,211,315	C/T	—	uncertain significance
rs985333083	3:50,211,316	G/A	—	uncertain significance
rs753733068	3:50,211,324	G/A	—	uncertain significance
rs757048607	3:50,211,341	C/T	—	likely benign
rs746523630	3:50,211,363	G/A	—	uncertain significance
rs771554773	3:50,211,374	C/T	—	uncertain significance
rs759918248	3:50,211,380	C/T	—	likely benign
rs374355347	3:50,211,475	C/G	—	likely benign
rs146858928	3:50,211,524	G/A	—	uncertain significance
rs369738643	3:50,211,547	C/T	—	likely benign
rs2546080859	3:50,211,554	T/G	—	likely benign
rs199591994	3:50,211,665	G/T	—	likely benign
rs1464169762	3:50,211,668	A/G	—	uncertain significance
rs200273983	3:50,211,681	C/T	—	likely benign
rs149131307	3:50,211,682	G/A	—	uncertain significance
rs112128203	3:50,211,695	A/G	—	uncertain significance
rs752415195	3:50,211,707	G/A	—	uncertain significance
rs150349920	3:50,211,726	C/T	—	likely benign
rs565188840	3:50,211,750	G/C	—	uncertain significance
rs146091236	3:50,211,768	C/T	—	likely benign
rs745746219	3:50,211,779	C/A	—	uncertain significance
rs200248678	3:50,211,793	A/T	—	likely benign
rs2546084096	3:50,212,529	G/A	—	uncertain significance
rs374979219	3:50,212,554	C/T	—	likely benign
rs762426156	3:50,212,555	G/A	—	likely benign
rs753100848	3:50,212,565	C/T	—	uncertain significance
rs563313079	3:50,212,567	C/T	—	likely benign
rs564428335	3:50,212,581	C/T	—	uncertain significance
rs758504768	3:50,212,582	G/A	—	likely benign
rs1188775526	3:50,212,586	G/A	—	uncertain significance
rs138949381	3:50,212,596	G/A	—	likely benign
rs144445925	3:50,214,207	A/G	—	likely benign
rs569472089	3:50,214,227	G/C	—	likely benign
rs539562353	3:50,214,231	C/T	—	uncertain significance
rs150956613	3:50,214,233	C/T	—	likely benign
rs375227432	3:50,214,260	C/T	—	likely benign
rs374695737	3:50,214,294	A/G	—	uncertain significance
rs13059311	3:50,216,421	T/C	intron variant	—
rs9858297	3:50,218,879	T/G	—	—
rs1434767927	3:50,219,725	C/G	—	uncertain significance
rs754585944	3:50,219,790	G/A	—	likely benign
rs779830920	3:50,219,801	T/C	—	uncertain significance
rs754496254	3:50,219,815	T/C	—	uncertain significance
rs1465334003	3:50,219,824	C/T	—	uncertain significance
rs41291722	3:50,219,843	G/A	—	likely benign
rs1182914674	3:50,220,126	T/C	—	likely benign
rs750832268	3:50,220,158	G/A	—	uncertain significance
rs774969605	3:50,220,192	C/T	—	likely benign
rs1230570656	3:50,220,330	C/T	—	likely benign
rs377522570	3:50,220,333	C/G	—	likely benign
rs2546106436	3:50,220,343	G/A	—	uncertain significance
rs1300931462	3:50,220,395	G/A	—	uncertain significance
rs569937416	3:50,220,400	G/A	—	likely benign
rs746790207	3:50,220,418	G/A	—	uncertain significance
rs188145590	3:50,220,623	C/T	—	likely benign
rs140413625	3:50,220,856	C/T	—	likely benign
rs1455414579	3:50,220,864	G/A	—	uncertain significance
rs767470094	3:50,220,916	C/T	—	likely benign
rs1195031315	3:50,220,945	A/G	—	uncertain significance
rs756979411	3:50,220,961	C/A	—	likely benign
rs201027529	3:50,220,991	G/A	—	likely benign
rs200014361	3:50,222,016	T/G	—	likely benign
rs746149107	3:50,222,123	C/T	—	likely benign
rs772280883	3:50,222,140	G/A	—	uncertain significance
rs145958913	3:50,222,143	G/A	—	uncertain significance
rs768661142	3:50,222,145	C/A	—	uncertain significance
rs754401762	3:50,222,187	A/G	—	likely benign
rs2546117204	3:50,222,199	C/A	—	uncertain significance
rs759861492	3:50,222,221	G/A	—	uncertain significance
rs755217152	3:50,222,878	C/T	—	uncertain significance
rs147680835	3:50,222,879	G/A	—	uncertain significance
rs769871462	3:50,222,880	C/T	—	likely benign
rs1046956	3:50,222,926	T/A	missense variant	benign

Showing 100 of 151 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.