SNX14

sorting nexin 14

Summary

This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

Known Variants225 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs41271623	6:86,215,383	C/T	—	likely benign
rs141329378	6:86,215,480	G/A	—	likely benign
rs61745951	6:86,215,671	C/A	—	benign
rs760726532	6:86,215,726	A/C	—	uncertain significance
rs13198956	6:86,215,897	C/T	—	benign
rs181446646	6:86,216,392	G/A	intron variant	—
rs781386483	6:86,216,933	T/G	—	likely benign
rs1008167271	6:86,217,009	T/C	—	likely pathogenic
rs73481323	6:86,217,079	A/G	—	benign
rs78681505	6:86,217,090	T/C	—	benign
rs4304137	6:86,217,448	T/G	—	benign
rs61749066	6:86,217,633	C/A	—	likely benign
rs61744370	6:86,217,666	C/T	—	benign
rs201483566	6:86,217,667	G/C	—	likely benign
rs141948771	6:86,217,706	G/C	—	uncertain significance
rs754304184	6:86,217,743	C/T	—	likely benign
rs758491411	6:86,217,757	C/T	—	uncertain significance
rs774694340	6:86,217,761	—	—	pathogenic
rs899103508	6:86,217,777	T/C	—	uncertain significance
rs111718193	6:86,223,313	G/A	—	benign
rs12203963	6:86,223,316	T/C	—	benign
rs16876339	6:86,223,471	C/T	—	benign
rs2534472574	6:86,223,534	C/G	—	uncertain significance
rs767607004	6:86,223,535	A/G	—	uncertain significance
rs765320143	6:86,223,554	T/C	—	uncertain significance
rs876657385	6:86,223,575	G/A	stop gained	pathogenic
rs1773833456	6:86,223,591	A/T	—	likely benign
rs2534479389	6:86,223,613	T/G	—	uncertain significance
rs771674560	6:86,223,617	A/C	—	likely benign
rs371536900	6:86,223,772	A/T	—	likely benign
rs200277996	6:86,223,787	C/T	—	pathogenic
rs143873124	6:86,223,813	C/T	—	likely benign
rs762356587	6:86,223,817	C/T	—	uncertain significance
rs773582903	6:86,223,821	G/A	—	uncertain significance
rs1314960191	6:86,223,864	A/C	—	likely benign
rs936843937	6:86,223,898	C/T	—	uncertain significance
rs2534507656	6:86,223,911	A/G	—	likely benign
rs1352670988	6:86,223,912	G/A	—	likely benign
rs373140675	6:86,223,933	A/C	—	likely benign
rs141213887	6:86,223,935	C/T	—	conflicting classifications of pathogenicity
rs556044910	6:86,223,950	G/A	—	uncertain significance
rs6454472	6:86,224,053	T/G	—	benign
rs765165148	6:86,224,252	T/C	—	likely benign
rs2534540954	6:86,224,291	C/T	—	likely benign
rs1376799877	6:86,224,302	T/C	—	uncertain significance
rs2534545622	6:86,224,336	A/C	—	uncertain significance
rs750117633	6:86,224,359	G/T	—	likely benign
rs112699762	6:86,224,514	G/A	—	likely benign
rs74594897	6:86,227,443	C/T	—	likely benign
rs2534731934	6:86,227,475	T/C	—	uncertain significance
rs138417324	6:86,227,481	T/C	—	uncertain significance
rs1775549041	6:86,227,512	G/C	—	uncertain significance
rs183469743	6:86,227,566	T/C	—	uncertain significance
rs1157837748	6:86,227,574	G/C	—	uncertain significance
rs1329394489	6:86,227,725	C/A	—	pathogenic
rs111303518	6:86,227,879	A/G	—	benign
rs749420274	6:86,235,856	C/T	—	uncertain significance
rs2535108274	6:86,235,947	C/T	—	likely benign
rs560412878	6:86,235,975	C/T	—	likely benign
rs9344533	6:86,236,188	C/A	—	benign
rs4351223	6:86,237,797	A/G	—	benign
rs114385487	6:86,237,799	G/A	—	benign
rs150615612	6:86,237,975	T/A	—	likely benign
rs1779123620	6:86,238,036	G/A	—	uncertain significance
rs1179888885	6:86,238,072	G/A	—	uncertain significance
rs367587585	6:86,238,077	G/A	—	uncertain significance
rs768172099	6:86,238,091	T/C	—	likely benign
rs112599967	6:86,238,102	G/T	—	benign
rs141089317	6:86,239,867	C/T	—	likely benign
rs876657386	6:86,239,909	C/A	—	pathogenic
rs2127989887	6:86,239,972	C/G	—	uncertain significance
rs527563032	6:86,239,986	G/A	—	likely benign
rs199618597	6:86,240,008	C/T	—	benign
rs2127990221	6:86,240,024	C/T	—	uncertain significance
rs4640862	6:86,240,147	G/A	—	benign
rs71570764	6:86,240,222	G/C	—	benign
rs116239156	6:86,243,063	T/C	—	likely benign
rs912195649	6:86,243,303	A/C	—	uncertain significance
rs1582696313	6:86,243,318	T/C	—	uncertain significance
rs942503022	6:86,243,322	C/G	—	uncertain significance
rs546991790	6:86,243,327	A/G	—	likely benign
rs2535440964	6:86,243,336	T/C	—	likely benign
rs1780949339	6:86,243,346	A/G	—	uncertain significance
rs200524655	6:86,243,417	T/C	—	likely benign
rs746552424	6:86,243,437	C/T	—	uncertain significance
rs1780983357	6:86,243,452	G/A	—	uncertain significance
rs569783894	6:86,243,456	A/G	—	likely benign
rs2535448457	6:86,243,462	T/A	—	likely benign
rs1582697948	6:86,243,476	C/A	—	likely pathogenic
rs2535449970	6:86,243,489	A/G	—	likely benign
rs752431331	6:86,243,497	T/C	—	uncertain significance
rs2535451778	6:86,243,516	A/C	—	uncertain significance
rs1782089356	6:86,246,498	C/T	—	likely benign
rs749656742	6:86,246,509	C/A	—	pathogenic
rs1270605435	6:86,246,518	C/G	—	uncertain significance
rs1475452583	6:86,246,650	T/C	—	uncertain significance
rs756510960	6:86,246,661	T/C	—	likely benign
rs12193777	6:86,246,709	C/A	—	benign
rs112792693	6:86,248,385	T/C	—	likely benign
rs9294337	6:86,248,460	T/C	—	benign

Showing 100 of 225 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.