NPRL3

NPR3 like, GATOR1 complex subunit

Summary

Predicted to enable GTPase activator activity. Involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. Part of GATOR1 complex. Is active in lysosomal membrane. Implicated in familial focal epilepsy with variable foci 3. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants689 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs577354419	16:136,519	C/T	—	likely benign
rs114328109	16:136,629	C/T	—	likely benign
rs10451206	16:136,636	A/C	—	benign
rs373810625	16:136,661	G/A	—	likely benign
rs370742366	16:136,666	C/G	—	benign
rs773919262	16:136,696	G/A	—	likely benign
rs1898486177	16:136,706	A/G	—	uncertain significance
rs925661310	16:136,713	C/G	—	likely benign
rs2542790869	16:136,715	G/C	—	uncertain significance
rs759144182	16:136,721	G/C	—	likely benign
rs764756422	16:136,727	C/T	—	uncertain significance
rs927325840	16:136,728	G/A	—	likely benign
rs1898488842	16:136,732	A/G	—	uncertain significance
rs752181668	16:136,736	C/A	—	uncertain significance
rs1216277325	16:136,737	A/G	—	likely benign
rs2542791088	16:136,741	T/C	—	uncertain significance
rs764005661	16:136,745	C/T	—	uncertain significance
rs370315887	16:136,746	G/A	—	likely benign
rs1898489910	16:136,747	T/G	—	uncertain significance
rs2141894717	16:136,752	G/A	—	likely benign
rs2141894722	16:136,758	C/T	—	likely benign
rs188724206	16:136,766	C/T	—	uncertain significance
rs1191944943	16:136,767	G/T	—	uncertain significance
rs537555038	16:136,769	T/C	—	uncertain significance
rs367598130	16:136,771	C/T	—	uncertain significance
rs193221958	16:136,772	G/A	—	uncertain significance
rs2141894824	16:136,786	A/G	—	uncertain significance
rs185556688	16:136,789	A/G	—	likely benign
rs1381874761	16:136,791	G/A	—	likely benign
rs771288626	16:136,804	C/T	—	uncertain significance
rs776882707	16:136,805	G/A	—	uncertain significance
rs775180844	16:136,809	C/T	—	likely benign
rs762391387	16:136,810	G/A	—	uncertain significance
rs1319822209	16:136,817	C/T	—	uncertain significance
rs763597112	16:136,818	G/A	—	likely benign
rs371517875	16:136,819	T/C	—	uncertain significance
rs767536312	16:136,820	T/C	—	uncertain significance
rs200669192	16:136,821	G/A	—	likely benign
rs2542791540	16:136,822	T/G	—	not provided
rs2141894953	16:136,824	C/G	—	uncertain significance
rs1453118437	16:136,825	A/G	—	uncertain significance
rs2542791581	16:136,828	A/C	—	uncertain significance
rs2542791613	16:136,831	T/C	—	uncertain significance
rs944428818	16:136,833	C/T	—	likely benign
rs1156861128	16:136,838	G/A	—	likely benign
rs1898496064	16:136,840	T/A	—	uncertain significance
rs756009039	16:136,846	C/T	—	uncertain significance
rs189283988	16:136,847	G/A	—	uncertain significance
rs752985390	16:136,850	C/T	—	uncertain significance
rs1369887915	16:136,851	G/A	—	likely benign
rs758488510	16:136,852	C/T	—	uncertain significance
rs1305476231	16:136,853	G/A	—	uncertain significance
rs2542791829	16:136,856	A/G	—	uncertain significance
rs2141895094	16:136,857	G/C	—	uncertain significance
rs558200249	16:136,866	G/T	—	likely benign
rs2141895127	16:136,869	C/T	—	uncertain significance
rs781742983	16:136,884	T/A	—	likely benign
rs743725	16:136,888	T/C	—	benign
rs540274288	16:136,889	G/A	—	likely benign
rs376979785	16:138,677	A/G	—	likely benign
rs758718371	16:138,678	C/T	—	likely benign
rs147148279	16:138,679	G/A	—	likely benign
rs746389609	16:138,685	A/G	—	likely benign
rs2542798657	16:138,699	G/T	—	likely benign
rs749698102	16:138,702	A/G	—	likely benign
rs768263296	16:138,707	T/C	—	uncertain significance
rs2141899690	16:138,708	G/T	—	likely benign
rs375305549	16:138,709	C/T	—	uncertain significance
rs747602641	16:138,710	G/A	—	uncertain significance
rs2141899710	16:138,713	G/T	—	uncertain significance
rs202015937	16:138,725	T/A	—	likely benign
rs2542798854	16:138,731	C/A	—	uncertain significance
rs372717858	16:138,734	C/T	—	uncertain significance
rs776547593	16:138,735	G/A	—	likely benign
rs2542798893	16:138,736	G/A	—	uncertain significance
rs1253562574	16:138,741	A/G	—	likely benign
rs1898614224	16:138,749	T/C	—	uncertain significance
rs751820088	16:138,753	T/C	—	uncertain significance
rs58036849	16:138,755	C/T	—	likely benign
rs767665276	16:138,756	G/A	—	likely benign
rs750844568	16:138,757	C/T	—	uncertain significance
rs756589112	16:138,758	G/A	—	uncertain significance
rs2141899833	16:138,761	C/A	—	pathogenic
rs780576847	16:138,768	C/T	—	likely benign
rs1172480661	16:138,771	C/T	—	likely benign
rs747844612	16:138,779	C/T	—	likely benign
rs746552103	16:138,785	G/T	—	uncertain significance
rs376164029	16:138,791	C/T	—	likely benign
rs1055200832	16:138,792	G/A	—	uncertain significance
rs1898620865	16:138,797	C/A	—	uncertain significance
rs2542799402	16:138,802	G/A	—	likely pathogenic
rs2141899969	16:138,803	G/C	—	uncertain significance
rs774394208	16:138,807	A/C	—	uncertain significance
rs2141899988	16:138,810	G/A	—	uncertain significance
rs370803087	16:138,812	C/T	—	likely benign
rs750482582	16:138,813	G/A	—	uncertain significance
rs903336173	16:138,819	C/G	—	uncertain significance
rs374687256	16:138,820	C/T	—	uncertain significance
rs571533880	16:138,821	G/A	—	likely benign
rs754359888	16:138,832	G/A	—	likely benign

Showing 100 of 689 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.