NOS1AP

nitric oxide synthase 1 adaptor protein

Summary

This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]

Known Variants110 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12044487	1:162,039,394	G/T	—	benign
rs528769988	1:162,039,695	C/T	—	benign
rs1553253970	1:162,040,007	C/A	—	uncertain significance
rs1691631574	1:162,040,013	C/G	—	uncertain significance
rs1691632353	1:162,040,059	G/A	—	uncertain significance
rs12096347	1:162,040,305	C/A	—	benign
rs12727810	1:162,068,428	G/A	intron variant	—
rs9724968	1:162,069,609	T/G	intron variant	—
rs1415259	1:162,085,309	C/T	intron variant	—
rs10494366	1:162,085,685	G/C	—	—
rs76662883	1:162,089,318	G/A	intron variant	—
rs191648462	1:162,089,443	C/T	intron variant	—
rs10918701	1:162,090,536	G/A	intron variant	—
rs7538490	1:162,091,330	T/C	intron variant	—
rs10918705	1:162,091,495	C/T	intron variant	—
rs16856785	1:162,100,287	G/C	intron variant	—
rs4620512	1:162,104,303	C/A	—	—
rs6677140	1:162,109,096	A/G	intron variant	—
rs16857031	1:162,112,910	C/G	regulatory region variant	—
rs10918776	1:162,123,945	G/C	—	benign
rs2525041912	1:162,124,240	A/G	—	uncertain significance
rs12029454	1:162,133,117	G/A	intron variant	—
rs560123160	1:162,133,848	C/T	—	—
rs12033217	1:162,134,107	C/G	—	—
rs189676321	1:162,145,973	T/A	intron variant	—
rs146009967	1:162,164,289	A/G	intron variant	—
rs78344479	1:162,164,883	G/T	intron variant	—
rs12567315	1:162,166,646	G/A	intron variant	—
rs10918859	1:162,169,268	G/A	regulatory region variant	—
rs4657172	1:162,179,632	C/T	—	—
rs73017364	1:162,184,746	T/C	intron variant	—
rs12734991	1:162,194,576	C/T	intron variant	—
rs4657175	1:162,195,738	T/G	intron variant	—
rs12737539	1:162,198,429	G/A	intron variant	—
rs114836703	1:162,207,801	G/T	intron variant	—
rs4657178	1:162,210,610	C/G	—	—
rs6677530	1:162,220,118	A/G	intron variant	—
rs12742393	1:162,224,586	A/C	intron variant	—
rs10800397	1:162,237,090	C/G	—	—
rs10919035	1:162,244,012	C/T	intron variant	—
rs10919077	1:162,256,875	A/G	—	benign
rs10800405	1:162,257,033	C/G	—	benign
rs748280771	1:162,257,151	G/C	—	uncertain significance
rs1363633940	1:162,257,176	A/T	—	uncertain significance
rs1215631561	1:162,257,224	A/G	—	uncertain significance
rs78377538	1:162,257,281	A/G	—	benign
rs59636124	1:162,257,491	T/C	—	benign
rs1486725581	1:162,270,427	T/A	—	uncertain significance
rs578153577	1:162,270,452	G/A	—	benign
rs41271967	1:162,270,463	G/A	—	benign
rs56178763	1:162,302,565	A/G	—	benign
rs116374043	1:162,302,579	T/C	—	likely benign
rs347306	1:162,302,635	C/T	—	benign
rs347307	1:162,302,689	C/T	—	benign
rs908210610	1:162,302,804	T/G	—	pathogenic
rs759642153	1:162,302,808	A/G	—	uncertain significance
rs41271969	1:162,302,846	C/T	—	likely benign
rs771468647	1:162,302,862	C/A	—	benign
rs772450089	1:162,302,876	C/G	—	uncertain significance
rs1656826074	1:162,302,890	G/A	—	pathogenic
rs374907852	1:162,302,933	G/A	—	uncertain significance
rs3751286	1:162,313,385	T/A	—	benign
rs3751285	1:162,313,518	A/G	—	benign
rs347278	1:162,313,597	C/T	—	benign
rs1335793126	1:162,313,619	T/A	—	uncertain significance
rs769901011	1:162,313,699	G/A	—	likely benign
rs375970752	1:162,313,706	A/G	—	uncertain significance
rs3751284	1:162,313,735	T/C	—	benign
rs146496289	1:162,313,747	C/T	—	benign
rs373351467	1:162,313,758	G/T	—	uncertain significance
rs347272	1:162,318,498	A/G	intron variant	—
rs11577628	1:162,319,524	A/G	regulatory region variant	—
rs182480938	1:162,324,972	T/G	—	benign
rs61751200	1:162,324,996	C/T	—	benign
rs761659403	1:162,324,998	A/G	—	uncertain significance
rs1418975346	1:162,325,001	G/A	—	uncertain significance
rs764756989	1:162,325,035	C/T	—	likely benign
rs757703119	1:162,325,040	C/T	—	uncertain significance
rs2525521361	1:162,325,077	A/C	—	uncertain significance
rs1557890834	1:162,325,151	A/G	—	uncertain significance
rs73029301	1:162,325,270	G/A	—	benign
rs34771279	1:162,325,369	G/A	—	benign
rs386231	1:162,325,823	C/T	intron variant	—
rs749455601	1:162,326,758	C/A	—	uncertain significance
rs796052202	1:162,326,811	C/T	—	uncertain significance
rs2525526199	1:162,326,820	C/T	—	uncertain significance
rs745484162	1:162,326,844	C/T	—	uncertain significance
rs77473623	1:162,326,851	C/T	—	likely benign
rs17428733	1:162,332,521	T/A	—	benign
rs1809973	1:162,334,881	T/C	—	likely benign
rs905721	1:162,335,052	C/T	—	benign
rs1258105177	1:162,335,255	G/A	—	uncertain significance
rs348624	1:162,335,256	C/T	—	benign
rs142303407	1:162,335,257	G/A	—	likely benign
rs1372122578	1:162,335,288	T/G	—	uncertain significance
rs1964052	1:162,335,424	T/C	—	benign
rs348623	1:162,335,500	T/C	—	benign
rs7551382	1:162,336,539	G/A	—	benign
rs1483879517	1:162,336,911	C/T	—	uncertain significance
rs1249679104	1:162,336,941	C/T	—	uncertain significance

Showing 100 of 110 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.