FBXO38

F-box protein 38

Summary

This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Known Variants630 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1758391504	5:147,774,340	A/G	—	uncertain significance
rs1272218730	5:147,774,343	G/A	—	uncertain significance
rs148337492	5:147,774,350	G/A	—	conflicting classifications of pathogenicity
rs2531681793	5:147,774,352	A/C	—	uncertain significance
rs776031529	5:147,774,356	A/G	—	uncertain significance
rs2531681833	5:147,774,361	G/A	—	uncertain significance
rs574130437	5:147,774,366	A/G	—	likely benign
rs1160174748	5:147,774,373	A/G	—	uncertain significance
rs1758393696	5:147,774,376	A/T	—	uncertain significance
rs765497349	5:147,774,381	T/G	—	uncertain significance
rs1470905234	5:147,774,384	T/C	—	likely benign
rs751405536	5:147,774,390	T/C	—	likely benign
rs750961469	5:147,774,393	A/G	—	likely benign
rs1581225783	5:147,774,400	A/G	—	uncertain significance
rs2531682074	5:147,774,401	T/C	—	uncertain significance
rs141470888	5:147,774,408	A/G	—	likely benign
rs777181109	5:147,774,410	A/G	—	uncertain significance
rs775196268	5:147,774,425	A/G	—	uncertain significance
rs77480566	5:147,774,426	T/C	—	likely benign
rs112086763	5:147,774,430	A/C	—	conflicting classifications of pathogenicity
rs2113505913	5:147,774,456	C/T	—	likely benign
rs376515064	5:147,774,473	A/G	—	uncertain significance
rs1376941419	5:147,774,476	G/T	—	likely benign
rs1382575969	5:147,774,486	G/A	—	likely benign
rs10072051	5:147,774,662	T/G	—	benign
rs11957411	5:147,774,706	T/G	—	benign
rs114174259	5:147,778,496	A/G	—	likely benign
rs2531696900	5:147,778,545	T/C	—	likely benign
rs773397825	5:147,778,568	C/G	—	likely benign
rs1403533819	5:147,778,570	C/T	—	uncertain significance
rs1400080044	5:147,778,588	G/A	—	uncertain significance
rs1361110357	5:147,778,590	A/G	—	uncertain significance
rs775165552	5:147,778,605	C/T	—	uncertain significance
rs760456022	5:147,778,606	G/A	—	uncertain significance
rs2531697245	5:147,778,616	G/T	—	uncertain significance
rs2113521830	5:147,778,621	C/T	—	uncertain significance
rs1248251990	5:147,778,623	G/A	—	uncertain significance
rs763779865	5:147,778,625	G/A	—	likely benign
rs2531697308	5:147,778,626	A/G	—	uncertain significance
rs74863106	5:147,778,631	A/G	—	benign
rs1751991718	5:147,778,632	T/A	—	uncertain significance
rs761704413	5:147,778,639	G/A	—	uncertain significance
rs2531697413	5:147,778,642	T/C	—	uncertain significance
rs1751992559	5:147,778,649	A/G	—	likely benign
rs1373717162	5:147,778,661	C/T	—	likely benign
rs2113522018	5:147,778,667	A/G	—	likely benign
rs1487923917	5:147,778,671	C/T	—	uncertain significance
rs751167811	5:147,778,672	G/A	—	uncertain significance
rs2531697664	5:147,778,680	G/A	—	uncertain significance
rs748706886	5:147,778,694	T/A	—	uncertain significance
rs2113522185	5:147,778,702	G/A	—	likely benign
rs76852156	5:147,778,918	G/A	—	benign
rs77866609	5:147,781,226	A/G	—	likely benign
rs765793688	5:147,781,532	C/G	—	likely benign
rs2113531734	5:147,781,537	C/T	—	likely benign
rs916170099	5:147,781,556	G/T	—	uncertain significance
rs1185057010	5:147,781,568	A/G	—	uncertain significance
rs1339219934	5:147,781,573	A/G	—	likely benign
rs889667327	5:147,781,592	G/A	—	uncertain significance
rs2113531978	5:147,781,608	G/A	—	uncertain significance
rs2531708336	5:147,781,615	C/T	—	likely benign
rs1306910725	5:147,781,619	C/T	—	uncertain significance
rs1201701262	5:147,781,620	G/A	—	uncertain significance
rs144375164	5:147,781,622	T/C	—	uncertain significance
rs1433144114	5:147,781,623	A/G	—	uncertain significance
rs2531708395	5:147,781,627	T/G	—	likely benign
rs2113532084	5:147,781,640	G/T	—	uncertain significance
rs2531708500	5:147,781,655	G/A	—	uncertain significance
rs756706023	5:147,781,658	T/C	—	uncertain significance
rs1752190334	5:147,781,678	A/G	—	likely benign
rs1296039801	5:147,781,687	G/T	—	uncertain significance
rs749305250	5:147,781,691	G/A	—	uncertain significance
rs34685718	5:147,781,732	T/G	—	benign
rs1237631648	5:147,781,893	T/C	—	likely benign
rs911073783	5:147,781,916	G/A	—	likely benign
rs771410003	5:147,781,922	T/C	—	likely benign
rs2531709819	5:147,781,932	G/A	—	uncertain significance
rs2113533109	5:147,781,935	T/C	—	likely benign
rs146162318	5:147,781,940	A/G	—	likely benign
rs1752206103	5:147,781,949	T/C	—	likely benign
rs2113533186	5:147,781,958	T/A	—	uncertain significance
rs2531709925	5:147,781,959	A/G	—	uncertain significance
rs1244178138	5:147,781,965	C/T	—	uncertain significance
rs2113533252	5:147,781,968	G/T	—	uncertain significance
rs1404180680	5:147,781,981	G/A	—	uncertain significance
rs377754520	5:147,781,988	T/C	—	benign
rs2531710069	5:147,781,989	C/T	—	uncertain significance
rs771708027	5:147,781,990	G/A	—	uncertain significance
rs760368532	5:147,781,994	T/C	—	benign
rs2531710164	5:147,781,996	G/A	—	uncertain significance
rs1752209871	5:147,782,009	T/C	—	likely benign
rs560664064	5:147,782,013	A/G	—	uncertain significance
rs2531710277	5:147,782,018	T/C	—	likely benign
rs140174313	5:147,782,031	C/T	—	likely benign
rs1470214468	5:147,782,044	T/C	—	uncertain significance
rs750935580	5:147,782,045	A/G	—	conflicting classifications of pathogenicity
rs751819675	5:147,782,079	G/A	—	uncertain significance
rs1235333798	5:147,782,085	A/G	—	likely benign
rs190963429	5:147,782,253	G/C	—	likely benign
rs115425944	5:147,784,012	A/G	—	likely benign

Showing 100 of 630 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.