DOCK6

dedicator of cytokinesis 6

Summary

This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]

Known Variants1,164 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12980863	19:11,309,871	C/T	—	benign
rs146220810	19:11,309,953	C/T	—	likely benign
rs78942291	19:11,310,106	C/T	—	likely benign
rs2512902955	19:11,310,179	G/A	—	likely benign
rs746117967	19:11,310,189	C/T	—	uncertain significance
rs779954240	19:11,310,206	C/A	—	uncertain significance
rs1219576861	19:11,310,208	A/T	—	uncertain significance
rs1316222868	19:11,310,218	G/A	—	uncertain significance
rs2079133048	19:11,310,220	A/G	—	likely benign
rs746754429	19:11,310,225	G/C	—	likely benign
rs115477715	19:11,310,388	C/T	—	likely benign
rs8101206	19:11,310,836	C/A	—	benign
rs8101345	19:11,310,920	C/T	—	benign
rs370462033	19:11,310,966	G/T	—	likely benign
rs1358589547	19:11,310,969	C/T	—	likely benign
rs1031583496	19:11,310,974	G/A	—	likely benign
rs541964125	19:11,310,986	G/C	—	uncertain significance
rs556988328	19:11,310,988	G/A	—	likely benign
rs772281824	19:11,310,992	G/A	—	likely benign
rs1358989533	19:11,310,999	G/C	—	likely benign
rs1363018682	19:11,311,019	C/G	—	likely benign
rs1441187471	19:11,311,024	G/A	—	uncertain significance
rs764405177	19:11,311,029	G/C	—	uncertain significance
rs1204283106	19:11,311,046	A/G	—	likely benign
rs758692332	19:11,311,054	G/A	—	uncertain significance
rs768594454	19:11,311,071	C/T	—	uncertain significance
rs781074293	19:11,311,072	G/A	—	uncertain significance
rs1394507560	19:11,311,073	C/A	—	uncertain significance
rs2147687489	19:11,311,079	C/T	—	likely benign
rs769851158	19:11,311,083	C/T	—	uncertain significance
rs772839281	19:11,311,084	G/C	—	uncertain significance
rs1238075992	19:11,311,088	G/T	—	pathogenic
rs2147687646	19:11,311,102	C/T	—	uncertain significance
rs373712482	19:11,311,103	C/T	—	likely benign
rs2147687737	19:11,311,108	C/G	—	uncertain significance
rs200181665	19:11,311,109	A/T	—	likely benign
rs1162361688	19:11,311,127	C/T	—	likely benign
rs36059048	19:11,311,129	G/A	—	uncertain significance
rs750552316	19:11,311,130	C/T	—	likely benign
rs766432668	19:11,311,134	G/A	—	uncertain significance
rs370576494	19:11,311,136	A/G	—	likely benign
rs1357538961	19:11,311,154	C/T	—	uncertain significance
rs777540404	19:11,311,163	G/A	—	likely benign
rs78779849	19:11,311,333	G/C	—	likely benign
rs890094657	19:11,311,379	G/A	—	likely benign
rs952577411	19:11,311,382	T/C	—	likely benign
rs375307066	19:11,311,385	C/A	—	likely benign
rs200393834	19:11,311,386	G/A	—	conflicting classifications of pathogenicity
rs756005941	19:11,311,388	C/G	—	uncertain significance
rs201387914	19:11,311,390	A/G	splice region variant	pathogenic
rs2512915091	19:11,311,393	T/C	—	uncertain significance
rs749201050	19:11,311,399	A/G	—	uncertain significance
rs757153964	19:11,311,401	A/C	—	uncertain significance
rs761608003	19:11,311,419	C/T	—	uncertain significance
rs376594140	19:11,311,420	G/A	—	uncertain significance
rs763437372	19:11,311,436	C/A	—	likely benign
rs766894749	19:11,311,437	C/T	—	uncertain significance
rs2512915573	19:11,311,439	G/C	—	uncertain significance
rs767666683	19:11,311,446	T/C	—	uncertain significance
rs1364387061	19:11,311,457	C/T	—	likely benign
rs372245070	19:11,311,458	G/C	—	uncertain significance
rs1158451303	19:11,311,472	A/G	—	likely benign
rs557096812	19:11,311,477	C/A	—	uncertain significance
rs1600838307	19:11,311,504	G/A	—	likely benign
rs1244539231	19:11,311,509	A/G	—	likely benign
rs199764395	19:11,311,514	G/C	—	likely benign
rs2512916265	19:11,311,515	A/G	—	likely benign
rs1451286097	19:11,311,566	C/T	—	likely benign
rs181867999	19:11,311,580	C/T	—	uncertain significance
rs572880984	19:11,311,581	G/A	—	benign
rs540194955	19:11,311,599	G/C	—	uncertain significance
rs369609034	19:11,311,605	C/T	—	conflicting classifications of pathogenicity
rs201292016	19:11,311,627	T/C	—	likely benign
rs377350157	19:11,311,643	G/A	—	uncertain significance
rs2079159519	19:11,311,646	G/C	—	uncertain significance
rs2147691056	19:11,311,653	G/A	—	likely pathogenic
rs768573911	19:11,311,676	C/T	—	uncertain significance
rs780857718	19:11,311,698	C/T	—	uncertain significance
rs369447950	19:11,311,699	G/A	—	likely benign
rs2512917664	19:11,311,705	C/T	—	likely benign
rs142270471	19:11,311,717	C/T	—	likely benign
rs377697359	19:11,311,718	G/A	—	uncertain significance
rs759026232	19:11,311,726	C/T	—	uncertain significance
rs371203988	19:11,311,727	G/A	—	uncertain significance
rs768791989	19:11,311,731	G/A	—	uncertain significance
rs773039492	19:11,311,744	A/C	—	likely benign
rs151248253	19:11,311,774	A/G	—	likely benign
rs79846490	19:11,311,885	G/C	—	benign
rs150487799	19:11,312,050	G/A	—	likely benign
rs35248735	19:11,312,238	G/A	—	benign
rs200790813	19:11,312,535	A/G	—	likely benign
rs1440833301	19:11,312,555	C/A	—	likely benign
rs373843420	19:11,312,556	C/G	—	benign
rs1408484865	19:11,312,569	T/C	—	uncertain significance
rs774273979	19:11,312,572	C/T	—	uncertain significance
rs539660006	19:11,312,573	G/A	—	uncertain significance
rs773454770	19:11,312,584	C/T	—	uncertain significance
rs551574920	19:11,312,585	G/A	—	uncertain significance
rs2079175445	19:11,312,605	G/A	—	uncertain significance
rs775119860	19:11,312,607	G/A	—	likely benign

Showing 100 of 1,164 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.