SEC23A

SEC23 homolog A, COPII component

Summary

The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]

Known Variants148 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1555257	14:39,508,067	T/G	—	benign
rs770144585	14:39,508,215	G/A	—	likely benign
rs1421920689	14:39,508,229	A/T	—	uncertain significance
rs2548598057	14:39,508,252	T/C	—	uncertain significance
rs750386277	14:39,508,277	G/A	—	likely benign
rs758424981	14:39,508,289	G/A	—	likely benign
rs2139182425	14:39,508,297	G/A	—	uncertain significance
rs1884385	14:39,508,607	C/T	—	benign
rs138568622	14:39,509,974	T/C	missense variant	uncertain significance
rs373104799	14:39,510,017	G/T	—	likely benign
rs2139185455	14:39,510,027	A/C	—	uncertain significance
rs757511306	14:39,510,034	G/A	—	uncertain significance
rs200050093	14:39,510,040	T/C	—	uncertain significance
rs2548599531	14:39,510,106	A/G	—	likely benign
rs62001129	14:39,510,173	T/C	—	benign
rs144656181	14:39,512,070	G/A	—	conflicting classifications of pathogenicity
rs201330860	14:39,512,082	G/A	—	likely benign
rs189849576	14:39,512,086	A/G	—	benign
rs200822209	14:39,512,098	G/C	—	likely benign
rs4902326	14:39,512,122	A/T	—	benign
rs6571888	14:39,512,347	G/A	—	benign
rs1884384	14:39,514,231	A/T	—	benign
rs77051476	14:39,514,274	G/T	—	benign
rs773286554	14:39,514,372	G/A	—	uncertain significance
rs751758051	14:39,514,391	C/T	—	likely benign
rs767767591	14:39,514,402	T/C	—	uncertain significance
rs370086460	14:39,514,410	A/G	—	uncertain significance
rs1251800035	14:39,514,429	T/A	—	uncertain significance
rs745505951	14:39,514,451	G/C	—	uncertain significance
rs941426640	14:39,514,453	G/A	—	uncertain significance
rs2139193533	14:39,514,471	C/T	—	likely pathogenic
rs775163398	14:39,514,482	T/C	—	uncertain significance
rs1325196444	14:39,514,507	A/T	—	uncertain significance
rs2415524	14:39,514,763	T/C	—	benign
rs4902344	14:39,517,691	T/A	—	benign
rs146486602	14:39,517,787	T/C	—	likely benign
rs1885932388	14:39,517,836	T/C	—	likely benign
rs2139199749	14:39,517,875	G/T	—	uncertain significance
rs11556216	14:39,517,925	T/C	—	benign
rs57049071	14:39,518,096	C/T	—	benign
rs10129762	14:39,518,135	T/C	—	benign
rs45540035	14:39,524,135	C/T	—	benign
rs1288174701	14:39,524,380	C/T	—	likely benign
rs1229826646	14:39,524,397	C/T	—	uncertain significance
rs1350768508	14:39,524,399	G/A	—	uncertain significance
rs754673747	14:39,524,423	C/T	—	uncertain significance
rs12882909	14:39,524,758	C/T	—	benign
rs74996756	14:39,530,751	A/C	—	likely benign
rs1196675541	14:39,530,970	T/G	—	uncertain significance
rs767175510	14:39,530,979	T/C	—	uncertain significance
rs763939038	14:39,530,988	C/T	—	uncertain significance
rs757227446	14:39,530,991	G/A	—	uncertain significance
rs770112771	14:39,531,014	T/C	—	uncertain significance
rs200540771	14:39,531,016	C/T	—	likely benign
rs759091967	14:39,531,042	C/G	—	uncertain significance
rs144799352	14:39,531,047	C/T	—	uncertain significance
rs3742354	14:39,531,281	T/C	—	benign
rs17678780	14:39,531,321	T/C	—	benign
rs72671372	14:39,532,438	G/A	—	benign
rs55993688	14:39,532,492	T/C	—	benign
rs1311505675	14:39,532,556	A/G	—	uncertain significance
rs2139231944	14:39,534,099	A/T	—	likely benign
rs1886605183	14:39,534,131	A/G	—	uncertain significance
rs2139232007	14:39,534,132	G/A	—	likely benign
rs2548620967	14:39,534,151	G/C	—	uncertain significance
rs1440922099	14:39,534,205	A/G	—	likely benign
rs755443033	14:39,536,375	A/C	—	likely pathogenic
rs140246467	14:39,536,389	C/T	—	likely benign
rs118204000	14:39,536,460	A/G	missense variant	pathogenic
rs1886702078	14:39,536,481	C/A	—	uncertain significance
rs777404819	14:39,536,496	A/T	—	uncertain significance
rs12164875	14:39,543,508	C/T	—	benign
rs77375580	14:39,543,630	G/A	—	benign
rs2548628299	14:39,543,668	A/C	—	uncertain significance
rs143126019	14:39,543,675	C/T	—	likely benign
rs749846887	14:39,543,727	T/C	—	uncertain significance
rs11628784	14:39,543,981	C/G	—	benign
rs929802936	14:39,545,167	T/C	—	uncertain significance
rs140473563	14:39,545,178	A/G	—	likely benign
rs17108797	14:39,545,199	A/G	—	benign
rs1254693441	14:39,545,223	C/T	—	likely benign
rs2548629800	14:39,545,249	G/C	—	uncertain significance
rs146187520	14:39,545,289	A/G	—	likely benign
rs1457689218	14:39,545,308	A/G	—	likely benign
rs75562112	14:39,545,485	T/C	—	likely benign
rs2273316	14:39,545,521	A/G	—	benign
rs2144530	14:39,552,484	C/T	intron variant	—
rs57120608	14:39,554,781	C/T	—	benign
rs56156769	14:39,554,891	T/C	—	benign
rs8009506	14:39,554,893	T/C	—	benign
rs1887422826	14:39,554,986	T/C	—	uncertain significance
rs549066823	14:39,554,990	A/G	—	likely benign
rs1193530363	14:39,555,049	G/C	—	uncertain significance
rs967970239	14:39,555,074	G/A	—	likely benign
rs147252686	14:39,555,087	A/G	—	uncertain significance
rs55997577	14:39,555,961	C/A	—	benign
rs73287674	14:39,556,034	T/G	—	benign
rs1178442784	14:39,556,142	G/A	—	uncertain significance
rs369778560	14:39,556,155	G/C	—	uncertain significance
rs2548639642	14:39,556,164	G/C	—	uncertain significance

Showing 100 of 148 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.