DEF6

DEF6 guanine nucleotide exchange factor

Summary

DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]

Known Variants275 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs45482297	6:35,265,535	G/T	—	—
rs1221770663	6:35,265,642	G/A	—	likely benign
rs760852332	6:35,265,643	C/T	—	uncertain significance
rs138793522	6:35,265,644	G/A	—	uncertain significance
rs1178378287	6:35,265,646	A/G	—	uncertain significance
rs1181650801	6:35,265,672	C/T	—	likely benign
rs1446389032	6:35,265,678	T/C	—	likely benign
rs570695706	6:35,265,681	C/T	—	likely benign
rs758808459	6:35,265,682	G/A	—	uncertain significance
rs1444209144	6:35,265,683	C/T	—	uncertain significance
rs764418962	6:35,265,684	G/A	—	likely benign
rs751210647	6:35,265,687	G/A	—	likely benign
rs202026924	6:35,265,690	C/T	—	likely benign
rs16874262	6:35,265,711	C/T	—	benign
rs1190132582	6:35,265,719	C/G	—	uncertain significance
rs1230394668	6:35,265,723	G/A	—	likely benign
rs568744718	6:35,265,737	G/A	—	likely benign
rs200707662	6:35,265,742	C/T	—	likely benign
rs557319255	6:35,265,743	G/A	—	likely benign
rs1791261059	6:35,265,745	G/A	—	likely benign
rs372296502	6:35,265,746	A/T	—	likely benign
rs776936734	6:35,265,748	C/A	—	likely benign
rs375513708	6:35,265,749	C/T	—	likely benign
rs148795252	6:35,267,656	C/T	regulatory region variant	—
rs539238520	6:35,277,429	C/T	—	likely benign
rs192314624	6:35,277,431	C/G	—	likely benign
rs372927174	6:35,277,440	A/G	—	likely benign
rs2534179040	6:35,277,452	G/A	—	likely benign
rs769985956	6:35,277,469	C/T	—	uncertain significance
rs775779844	6:35,277,470	G/C	—	likely benign
rs2150386732	6:35,277,485	C/T	—	likely benign
rs1791438673	6:35,277,486	C/T	—	uncertain significance
rs139976461	6:35,277,527	T/C	—	likely benign
rs776898412	6:35,277,530	C/T	—	likely benign
rs1241575554	6:35,277,548	G/A	—	likely benign
rs752722729	6:35,277,563	C/T	—	likely benign
rs141861681	6:35,277,566	C/T	—	likely benign
rs1791440119	6:35,277,594	C/T	—	likely benign
rs2150386777	6:35,277,600	T/C	—	likely benign
rs2534179254	6:35,277,601	T/C	—	likely benign
rs2150386779	6:35,277,602	G/A	—	likely benign
rs2534179257	6:35,277,605	G/A	—	likely benign
rs2534179929	6:35,278,219	T/G	—	likely benign
rs376192997	6:35,278,222	A/G	—	likely benign
rs751346092	6:35,278,244	G/A	—	likely benign
rs1276131205	6:35,278,254	G/C	—	uncertain significance
rs2534179990	6:35,278,255	T/A	—	uncertain significance
rs1400663763	6:35,278,266	T/G	—	uncertain significance
rs2534180007	6:35,278,275	C/T	—	likely benign
rs369398991	6:35,278,286	G/A	—	likely benign
rs997238074	6:35,278,292	G/A	—	uncertain significance
rs779366000	6:35,278,308	C/T	—	uncertain significance
rs150604825	6:35,278,309	G/C	—	uncertain significance
rs202091466	6:35,278,314	G/C	—	conflicting classifications of pathogenicity
rs2150386984	6:35,278,322	C/T	—	likely benign
rs1791454790	6:35,278,328	C/G	—	uncertain significance
rs150977102	6:35,278,355	C/T	—	likely benign
rs757085688	6:35,278,424	G/A	—	uncertain significance
rs1791455554	6:35,278,427	G/A	—	uncertain significance
rs767466397	6:35,278,428	G/T	—	likely benign
rs368907376	6:35,278,432	T/A	—	likely benign
rs1233397521	6:35,278,435	C/T	—	likely benign
rs1791455820	6:35,278,440	C/T	—	likely benign
rs181798723	6:35,278,458	G/T	intron variant	—
rs12332985	6:35,278,924	C/A	intron variant	—
rs370895388	6:35,280,075	C/T	—	likely benign
rs369847754	6:35,280,116	G/A	—	uncertain significance
rs760399698	6:35,280,131	T/C	—	uncertain significance
rs1262385231	6:35,280,158	A/G	—	uncertain significance
rs1444410607	6:35,280,182	C/G	—	uncertain significance
rs35395160	6:35,280,183	C/T	—	benign
rs144395191	6:35,280,184	G/A	—	uncertain significance
rs539849075	6:35,280,185	G/T	—	uncertain significance
rs746197755	6:35,280,186	G/A	—	likely benign
rs770090116	6:35,280,189	G/C	—	likely benign
rs1214001591	6:35,280,195	C/T	—	likely benign
rs779727492	6:35,280,196	G/A	—	uncertain significance
rs146706360	6:35,280,207	C/A	—	uncertain significance
rs1791479973	6:35,280,211	G/C	—	uncertain significance
rs148839014	6:35,280,216	C/T	—	likely benign
rs761408118	6:35,280,224	C/T	—	uncertain significance
rs771987663	6:35,280,225	G/A	—	likely benign
rs941634967	6:35,280,228	C/G	—	likely benign
rs773044621	6:35,280,229	C/T	—	uncertain significance
rs1043201299	6:35,280,230	G/A	—	uncertain significance
rs543938116	6:35,280,238	C/T	—	uncertain significance
rs766125119	6:35,280,239	G/A	—	uncertain significance
rs752905282	6:35,280,243	C/T	—	likely benign
rs200254432	6:35,280,244	G/A	—	uncertain significance
rs1281915838	6:35,280,248	G/A	—	uncertain significance
rs1041454042	6:35,280,251	G/A	—	uncertain significance
rs142511424	6:35,280,252	G/C	—	likely benign
rs377311393	6:35,280,259	C/G	—	conflicting classifications of pathogenicity
rs998640078	6:35,280,270	C/T	—	likely benign
rs750935944	6:35,280,273	C/A	—	likely benign
rs563519848	6:35,280,276	C/T	—	likely benign
rs780620376	6:35,280,277	G/A	—	uncertain significance
rs2150387447	6:35,280,283	T/G	—	pathogenic
rs2150387452	6:35,280,291	G/A	—	likely benign
rs2534182316	6:35,280,292	C/A	—	uncertain significance

Showing 100 of 275 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.