DOCK8

dedicator of cytokinesis 8

Summary

This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]

Known Variants2,086 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs76532765	9:211,359	G/A	upstream gene variant	—
rs116104753	9:214,593	T/C	—	benign
rs117856897	9:214,679	G/A	—	likely benign
rs540473	9:214,706	G/C	—	benign
rs115610637	9:214,719	T/C	—	likely benign
rs80013679	9:214,847	A/C	—	likely benign
rs886063777	9:214,872	G/T	—	uncertain significance
rs886063778	9:214,877	T/A	—	uncertain significance
rs62533313	9:214,908	C/T	—	benign
rs144097790	9:214,919	C/T	—	uncertain significance
rs769683861	9:214,965	C/T	—	likely benign
rs760902978	9:214,978	T/C	—	uncertain significance
rs995474571	9:214,980	G/A	—	uncertain significance
rs759932577	9:214,982	C/T	—	likely benign
rs199739266	9:214,984	C/G	—	benign
rs1237906578	9:214,986	C/T	—	likely benign
rs753215803	9:214,988	G/T	—	likely benign
rs1018736787	9:214,990	C/G	—	uncertain significance
rs148276394	9:214,991	G/A	—	likely benign
rs756971694	9:214,993	G/T	—	uncertain significance
rs1478022070	9:214,994	C/T	—	likely benign
rs1188948475	9:214,998	G/A	—	uncertain significance
rs780984101	9:215,000	G/C	—	uncertain significance
rs1465766530	9:215,003	C/G	—	likely benign
rs2538271431	9:215,009	G/A	—	likely benign
rs886063779	9:215,010	T/G	—	uncertain significance
rs566738926	9:215,012	C/A	—	conflicting classifications of pathogenicity
rs749272308	9:215,013	G/C	—	uncertain significance
rs773286453	9:215,015	G/T	—	uncertain significance
rs1273096402	9:215,016	C/T	—	uncertain significance
rs1219439848	9:215,019	A/C	—	uncertain significance
rs1316350320	9:215,024	C/T	—	likely benign
rs776889811	9:215,025	A/T	—	uncertain significance
rs1291124124	9:215,026	A/G	—	uncertain significance
rs200689054	9:215,028	A/G	—	conflicting classifications of pathogenicity
rs1197388365	9:215,029	G/A	—	uncertain significance
rs2046707580	9:215,030	G/A	—	likely pathogenic
rs2131309341	9:215,032	A/T	—	uncertain significance
rs765664430	9:215,038	C/T	—	likely benign
rs763565243	9:215,039	C/T	—	conflicting classifications of pathogenicity
rs764626266	9:215,040	C/T	—	conflicting classifications of pathogenicity
rs751176905	9:215,041	C/T	—	likely benign
rs756810591	9:215,043	C/G	—	likely benign
rs755676032	9:215,049	G/A	—	likely benign
rs778809812	9:215,052	C/T	—	uncertain significance
rs481905	9:215,057	T/C	—	benign
rs141134256	9:215,060	T/G	—	likely benign
rs192260189	9:215,081	T/G	—	likely benign
rs147359731	9:215,086	C/A	—	benign
rs201997775	9:215,173	C/G	—	likely benign
rs114729906	9:215,258	T/C	—	benign
rs636922	9:215,269	C/A	—	benign
rs115917982	9:215,277	G/A	—	likely benign
rs377068395	9:215,291	G/C	—	uncertain significance
rs73370597	9:215,296	G/A	—	benign
rs77005692	9:215,329	G/A	—	benign
rs617453	9:223,339	A/T	—	—
rs1536608	9:223,613	T/C	—	—
rs78216177	9:232,148	G/C	intron variant	—
rs148129664	9:271,450	T/G	—	likely benign
rs682251	9:271,455	C/T	—	benign
rs9792501	9:271,467	C/T	—	benign
rs73374530	9:271,518	T/C	—	benign
rs79772149	9:271,534	A/G	—	benign
rs75169267	9:271,572	C/T	—	likely benign
rs1428271285	9:271,612	C/G	—	likely benign
rs1386334600	9:271,619	A/G	—	likely benign
rs1168849643	9:271,622	C/G	—	uncertain significance
rs192864327	9:271,626	G/T	splice region variant	pathogenic
rs578093992	9:271,629	A/G	—	uncertain significance
rs2537455736	9:271,631	T/A	—	uncertain significance
rs1363190971	9:271,632	C/T	—	uncertain significance
rs506121	9:271,638	T/C	—	likely benign
rs561397821	9:271,639	G/A	—	likely benign
rs531628086	9:271,645	A/G	—	uncertain significance
rs1026518997	9:271,646	A/G	—	uncertain significance
rs2048168392	9:271,649	A/C	—	uncertain significance
rs1322181469	9:271,654	G/C	—	uncertain significance
rs2048168645	9:271,657	T/G	—	uncertain significance
rs2537455986	9:271,660	T/C	—	likely benign
rs1291085702	9:271,663	C/G	—	likely benign
rs2537456013	9:271,666	A/G	—	likely benign
rs1485703434	9:271,697	A/C	—	uncertain significance
rs962341270	9:271,699	A/G	—	uncertain significance
rs2537456155	9:271,700	A/G	—	uncertain significance
rs2537456178	9:271,705	C/T	—	likely benign
rs758437810	9:271,710	G/A	—	conflicting classifications of pathogenicity
rs1045835531	9:271,721	C/T	—	uncertain significance
rs2537456322	9:271,723	T/A	—	likely benign
rs1420962244	9:271,724	C/G	—	uncertain significance
rs1469421756	9:271,727	C/T	—	likely benign
rs201545102	9:271,729	A/G	—	uncertain significance
rs991177118	9:271,736	A/G	—	uncertain significance
rs766788491	9:271,746	G/C	—	likely benign
rs114889958	9:271,758	G/A	—	likely benign
rs61167112	9:271,822	A/G	—	benign
rs57498434	9:271,864	T/C	—	benign
rs61393783	9:272,033	A/G	—	benign
rs2992835	9:272,981	C/G	—	benign
rs150314778	9:273,112	T/C	—	likely benign

Showing 100 of 2,086 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.