DOCK7

dedicator of cytokinesis 7

Summary

The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Known Variants1,548 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs636523	1:62,920,008	A/G	downstream gene variant	—
rs79913813	1:62,920,930	G/A	—	likely benign
rs114747052	1:62,920,989	C/A	—	likely benign
rs1202463736	1:62,921,086	T/G	—	uncertain significance
rs145548218	1:62,921,096	T/C	—	uncertain significance
rs201452223	1:62,921,101	C/T	—	uncertain significance
rs751519461	1:62,921,107	C/T	—	uncertain significance
rs1267119839	1:62,921,113	C/T	—	uncertain significance
rs756798144	1:62,921,114	G/T	—	likely benign
rs1645319931	1:62,921,119	A/C	—	uncertain significance
rs2523439462	1:62,921,121	G/A	—	likely benign
rs1645320095	1:62,921,123	A/G	—	uncertain significance
rs1166858046	1:62,921,127	T/C	—	conflicting classifications of pathogenicity
rs200786837	1:62,921,133	A/G	—	likely benign
rs769604812	1:62,921,137	A/T	—	likely benign
rs1388341626	1:62,921,141	G/A	—	likely benign
rs146910328	1:62,921,146	A/G	—	benign
rs634341	1:62,921,422	T/C	—	benign
rs2149219326	1:62,923,190	C/A	—	likely benign
rs2149219331	1:62,923,199	A/T	—	likely benign
rs779747783	1:62,923,209	C/T	—	uncertain significance
rs2149219371	1:62,923,214	G/A	—	likely benign
rs779191377	1:62,923,221	A/G	—	uncertain significance
rs772596903	1:62,923,229	T/C	—	likely benign
rs2149219434	1:62,923,250	G/A	—	likely benign
rs376000534	1:62,923,259	G/A	—	likely benign
rs1254157111	1:62,923,262	G/T	—	likely benign
rs1473532937	1:62,923,265	C/T	—	likely benign
rs1645383270	1:62,923,273	G/C	—	uncertain significance
rs759726839	1:62,923,290	C/A	—	uncertain significance
rs763902201	1:62,923,291	G/A	—	uncertain significance
rs1302012794	1:62,923,298	G/A	—	likely benign
rs1645384711	1:62,923,304	C/T	—	likely benign
rs767572584	1:62,923,322	C/T	—	likely benign
rs587777485	1:62,923,324	C/A	stop gained	pathogenic
rs750440166	1:62,923,325	C/T	—	likely benign
rs1374794957	1:62,923,333	C/T	—	uncertain significance
rs35747851	1:62,923,334	C/T	—	benign
rs753509954	1:62,923,335	G/A	—	uncertain significance
rs2149219643	1:62,923,341	A/G	—	uncertain significance
rs367781797	1:62,923,342	T/C	—	uncertain significance
rs1226990619	1:62,923,346	G/A	—	likely benign
rs1571160560	1:62,923,352	A/G	—	likely benign
rs1553147733	1:62,923,373	A/G	—	likely benign
rs1645387288	1:62,923,374	C/T	—	uncertain significance
rs192197842	1:62,923,381	G/C	—	likely benign
rs201108715	1:62,923,390	G/C	—	likely benign
rs12023489	1:62,923,858	G/A	regulatory region variant	—
rs12037659	1:62,923,863	C/T	regulatory region variant	—
rs9988450	1:62,924,448	C/T	intron variant	—
rs1305520	1:62,926,057	A/T	intron variant	—
rs1167996	1:62,927,797	T/G	intron variant	—
rs998403	1:62,928,549	G/A	intron variant	—
rs1177541	1:62,929,892	G/C	—	—
rs11207972	1:62,930,224	G/A	intron variant	—
rs1167998	1:62,931,632	C/T	—	—
rs12124281	1:62,934,002	G/A	intron variant	—
rs12124284	1:62,934,027	G/C	—	—
rs1168002	1:62,934,308	A/G	intron variant	—
rs1168003	1:62,934,846	G/A	intron variant	—
rs10889330	1:62,939,466	G/C	—	benign
rs1168007	1:62,939,634	C/T	—	benign
rs371569843	1:62,939,644	C/T	—	likely benign
rs1167483338	1:62,939,648	A/C	—	uncertain significance
rs778159924	1:62,939,681	G/A	—	pathogenic
rs2523702303	1:62,939,683	A/T	—	uncertain significance
rs1645904225	1:62,939,700	G/C	—	uncertain significance
rs374052758	1:62,939,708	T/C	—	uncertain significance
rs757734282	1:62,939,711	G/A	—	uncertain significance
rs2149256597	1:62,939,717	T/C	—	uncertain significance
rs1645904828	1:62,939,719	G/T	—	uncertain significance
rs2523703262	1:62,939,720	G/A	—	uncertain significance
rs781263939	1:62,939,726	C/G	—	uncertain significance
rs2149256623	1:62,939,730	C/G	—	likely benign
rs749566422	1:62,939,753	A/C	—	uncertain significance
rs771973972	1:62,939,757	C/T	—	likely benign
rs376514981	1:62,939,763	C/A	—	likely benign
rs770781027	1:62,939,768	T/C	—	likely benign
rs921038032	1:62,939,776	T/C	—	likely benign
rs2149256727	1:62,939,778	A/C	—	likely benign
rs529504725	1:62,939,779	G/A	—	likely benign
rs116569821	1:62,939,922	T/C	—	likely benign
rs141314882	1:62,940,071	G/A	—	likely benign
rs1979722	1:62,940,097	G/A	—	benign
rs545564631	1:62,940,868	A/G	—	likely benign
rs769034143	1:62,940,872	C/T	—	likely benign
rs777647463	1:62,940,874	C/T	—	uncertain significance
rs2149258590	1:62,940,888	T/A	—	likely benign
rs2523721238	1:62,940,894	G/C	—	likely benign
rs2523721306	1:62,940,900	A/G	—	likely benign
rs1383139648	1:62,940,926	T/C	—	uncertain significance
rs1571219979	1:62,940,928	T/C	—	uncertain significance
rs202231787	1:62,940,939	G/A	—	likely benign
rs2149258678	1:62,940,948	A/C	—	uncertain significance
rs188799098	1:62,940,949	T/C	—	uncertain significance
rs143414077	1:62,940,966	C/T	—	likely benign
rs539480591	1:62,940,975	C/T	—	likely benign
rs1645937525	1:62,940,983	G/C	—	uncertain significance
rs2149258747	1:62,940,987	G/A	—	likely benign
rs1010562693	1:62,941,001	C/G	—	uncertain significance

Showing 100 of 1,548 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.