CleftGeneDB-Search

Gene: NPRL3

Basic information

Tag	Content
Uniprot ID	Q12980; D3DU40; Q1W6H0; Q4TT56; Q92469;
Entrez ID	8131
Genbank protein ID	CAI94885.1; EAW85865.1; ABD95907.1; EAW85867.1; CAA62368.1; CAI95611.1;
Genbank nucleotide ID	NM_001077350.2
Ensembl protein ID	ENSP00000478273; ENSP00000483814;
Ensembl nucleotide ID	ENSG00000103148
Gene name	GATOR complex protein NPRL3
Gene symbol	NPRL3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.
Sequence	MRDNTSPISV ILVSSGSRGN KLLFRYPFQR SQEHPASQTS KPRSRYAASN TGDHADEQDG 60 DSRFSDVILA TILATKSEMC GQKFELKIDN VRFVGHPTLL QHALGQISKT DPSPKREAPT 120 MILFNVVFAL RANADPSVIN CLHNLSRRIA TVLQHEERRC QYLTREAKLI LALQDEVSAM 180 ADGNEGPQSP FHHILPKCKL ARDLKEAYDS LCTSGVVRLH INSWLEVSFC LPHKIHYAAS 240 SLIPPEAIER SLKAIRPYHA LLLLSDEKSL LGELPIDCSP ALVRVIKTTS AVKNLQQLAQ 300 DADLALLQVF QLAAHLVYWG KAIIIYPLCE NNVYMLSPNA SVCLYSPLAE QFSHQFPSHD 360 LPSVLAKFSL PVSLSEFRNP LAPAVQETQL IQMVVWMLQR RLLIQLHTYV CLMASPSEEE 420 PRPREDDVPF TARVGGRSLS TPNALSFGSP TSSDDMTLTS PSMDNSSAEL LPSGDSPLNQ 480 RMTENLLASL SEHERAAILS VPAAQNPEDL RMFARLLHYF RGRHHLEEIM YNENTRRSQL 540 LMLFDKFRSV LVVTTHEDPV IAVFQALLP 569

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
6CES

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	NPRL3	102185418	A0A452EG12		Capra hircus	Prediction	More>>
1:1 ortholog	NPRL3	8131	Q12980		Homo sapiens	Prediction	More>>
1:1 ortholog	Nprl3	17168	Q8VIJ8	CPO	Mus musculus	Publication	More>>
1:1 ortholog	NPRL3		A0A2I3SNN6		Pan troglodytes	Prediction	More>>
1:1 ortholog		100521441	A0A4X1UMH2		Sus scrofa	Prediction	More>>
1:1 ortholog	Nprl3	360505	A0A0G2K0K3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	nprl3		F1QH43		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs752487586	p.Arg2Pro	missense variant	-	NC_000016.10:g.138263C>G	ExAC,TOPMed,gnomAD
rs866916266	p.Arg2Trp	missense variant	-	NC_000016.10:g.138264G>A	gnomAD
rs752487586	p.Arg2Gln	missense variant	-	NC_000016.10:g.138263C>T	ExAC,TOPMed,gnomAD
rs1429725424	p.Asp3Ala	missense variant	-	NC_000016.10:g.138260T>G	TOPMed
rs1478358968	p.Asp3Glu	missense variant	-	NC_000016.10:g.138259G>C	gnomAD
rs759212295	p.Asn4Ser	missense variant	-	NC_000016.10:g.138257T>C	ExAC,TOPMed,gnomAD
rs759212295	p.Asn4Thr	missense variant	-	NC_000016.10:g.138257T>G	ExAC,TOPMed,gnomAD
rs776554504	p.Thr5Ile	missense variant	-	NC_000016.10:g.138254G>A	ExAC,TOPMed,gnomAD
rs770799124	p.Pro7His	missense variant	-	NC_000016.10:g.138248G>T	ExAC,TOPMed,gnomAD
rs770799124	p.Pro7Leu	missense variant	-	NC_000016.10:g.138248G>A	ExAC,TOPMed,gnomAD
rs760236969	p.Ser9Gly	missense variant	-	NC_000016.10:g.138243T>C	ExAC,gnomAD
rs1256050109	p.Val10Met	missense variant	-	NC_000016.10:g.138240C>T	gnomAD
rs1256050109	p.Val10Leu	missense variant	-	NC_000016.10:g.138240C>G	gnomAD
rs771660247	p.Ser14Asn	missense variant	-	NC_000016.10:g.138227C>T	ExAC,gnomAD
rs574961287	p.Tyr26Phe	missense variant	-	NC_000016.10:g.138191T>A	gnomAD
rs1303500452	p.Pro27Leu	missense variant	-	NC_000016.10:g.138188G>A	TOPMed,gnomAD
rs778379426	p.Pro27Ser	missense variant	-	NC_000016.10:g.138189G>A	ExAC,gnomAD
rs1303500452	p.Pro27His	missense variant	-	NC_000016.10:g.138188G>T	TOPMed,gnomAD
rs1021394339	p.Gln29Lys	missense variant	-	NC_000016.10:g.138183G>T	TOPMed
rs780716774	p.Ser31Asn	missense variant	-	NC_000016.10:g.138176C>T	ExAC,gnomAD
RCV000705783	p.Gln32Ter	nonsense	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.138174G>A	ClinVar
rs781311988	p.Glu33Gly	missense variant	-	NC_000016.10:g.138170T>C	ExAC,gnomAD
rs745987603	p.Glu33Lys	missense variant	-	NC_000016.10:g.138171C>T	ExAC,gnomAD
rs1183041025	p.His34Tyr	missense variant	-	NC_000016.10:g.138168G>A	gnomAD
rs1163115652	p.Pro35Ala	missense variant	-	NC_000016.10:g.138165G>C	gnomAD
rs1262389619	p.Pro35Leu	missense variant	-	NC_000016.10:g.138164G>A	gnomAD
rs1418799391	p.Ala36Thr	missense variant	-	NC_000016.10:g.138162C>T	gnomAD
rs751842451	p.Ala36Val	missense variant	-	NC_000016.10:g.138161G>A	ExAC,gnomAD
rs1249393486	p.Ser37Phe	missense variant	-	NC_000016.10:g.138158G>A	gnomAD
COSM5148625	p.Gln38Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.138155T>A	NCI-TCGA Cosmic
rs1277893899	p.Ser40Asn	missense variant	-	NC_000016.10:g.130591C>T	TOPMed,gnomAD
rs1299719512	p.Lys41Glu	missense variant	-	NC_000016.10:g.130589T>C	TOPMed
rs762676113	p.Pro42Leu	missense variant	-	NC_000016.10:g.130585G>A	ExAC,TOPMed,gnomAD
rs376476299	p.Arg43Pro	missense variant	-	NC_000016.10:g.130582C>G	ESP,ExAC,TOPMed,gnomAD
rs376476299	p.Arg43Leu	missense variant	-	NC_000016.10:g.130582C>A	ESP,ExAC,TOPMed,gnomAD
rs770318147	p.Arg43Cys	missense variant	-	NC_000016.10:g.130583G>A	ExAC,TOPMed,gnomAD
rs376476299	p.Arg43His	missense variant	-	NC_000016.10:g.130582C>T	ESP,ExAC,TOPMed,gnomAD
rs770318147	p.Arg43Ser	missense variant	-	NC_000016.10:g.130583G>T	ExAC,TOPMed,gnomAD
rs1440203625	p.Ser44Gly	missense variant	-	NC_000016.10:g.130580T>C	TOPMed,gnomAD
RCV000653293	p.Tyr46Ter	nonsense	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.130572G>C	ClinVar
rs1364502296	p.Tyr46His	missense variant	-	NC_000016.10:g.130574A>G	gnomAD
rs1021001959	p.Tyr46Ter	stop gained	-	NC_000016.10:g.130572G>C	TOPMed,gnomAD
rs1401901852	p.Ala47Thr	missense variant	-	NC_000016.10:g.130571C>T	TOPMed,gnomAD
rs1401901852	p.Ala47Ser	missense variant	-	NC_000016.10:g.130571C>A	TOPMed,gnomAD
rs373761767	p.Asn50Lys	missense variant	-	NC_000016.10:g.130560G>C	ESP,TOPMed,gnomAD
RCV000658728	p.Asn50Lys	missense variant	-	NC_000016.10:g.130560G>C	ClinVar
rs777208794	p.Thr51Met	missense variant	-	NC_000016.10:g.130558G>A	ExAC,gnomAD
rs1180748912	p.Gly52Asp	missense variant	-	NC_000016.10:g.130555C>T	TOPMed
rs1268399202	p.Asp53Asn	missense variant	-	NC_000016.10:g.130553C>T	TOPMed,gnomAD
rs1217583836	p.Ala55Gly	missense variant	-	NC_000016.10:g.130546G>C	gnomAD
rs1418498571	p.Asp56Val	missense variant	-	NC_000016.10:g.130543T>A	gnomAD
rs777683049	p.Asp56Asn	missense variant	-	NC_000016.10:g.130544C>T	ExAC,TOPMed,gnomAD
rs907712162	p.Glu57Lys	missense variant	-	NC_000016.10:g.130541C>T	TOPMed
rs1204695345	p.Gln58Pro	missense variant	-	NC_000016.10:g.130537T>G	gnomAD
rs1048069050	p.Asp59Glu	missense variant	-	NC_000016.10:g.130533G>T	TOPMed,gnomAD
rs1346241271	p.Asp59Tyr	missense variant	-	NC_000016.10:g.130535C>A	gnomAD
rs1222017166	p.Gly60Ser	missense variant	-	NC_000016.10:g.130532C>T	TOPMed,gnomAD
rs748391280	p.Asp61Asn	missense variant	-	NC_000016.10:g.130529C>T	ExAC,TOPMed,gnomAD
rs779065782	p.Asp61Val	missense variant	-	NC_000016.10:g.130528T>A	ExAC,gnomAD
RCV000579212	p.Ser65Ter	nonsense	-	NC_000016.10:g.119250G>C	ClinVar
rs1555444207	p.Ser65Ter	stop gained	-	NC_000016.10:g.119250G>C	-
rs766673462	p.Ile68Thr	missense variant	-	NC_000016.10:g.119241A>G	ExAC,gnomAD
rs1345246971	p.Thr71Ser	missense variant	-	NC_000016.10:g.119233T>A	gnomAD
rs1343443394	p.Ile72Val	missense variant	-	NC_000016.10:g.119230T>C	gnomAD
rs1362999615	p.Gly81Ser	missense variant	-	NC_000016.10:g.119203C>T	gnomAD
rs1178301849	p.Gln82Pro	missense variant	-	NC_000016.10:g.119199T>G	TOPMed
rs560167568	p.Phe84Cys	missense variant	-	NC_000016.10:g.119193A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1451736465	p.Leu86Met	missense variant	-	NC_000016.10:g.119188G>T	gnomAD
rs1345062988	p.Lys87Asn	missense variant	-	NC_000016.10:g.119183C>A	TOPMed,gnomAD
rs551576449	p.Asn90Ser	missense variant	-	NC_000016.10:g.119175T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs367729589	p.Arg92Gln	missense variant	-	NC_000016.10:g.119169C>T	ESP,ExAC,TOPMed,gnomAD
rs367729589	p.Arg92Gln	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.119169C>T	UniProt,dbSNP
VAR_077126	p.Arg92Gln	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.119169C>T	UniProt
rs1199226176	p.Arg92Gly	missense variant	-	NC_000016.10:g.119170G>C	gnomAD
NCI-TCGA novel	p.Arg92Ter	stop gained	-	NC_000016.10:g.119170G>A	NCI-TCGA
rs1184200053	p.Val94Phe	missense variant	-	NC_000016.10:g.119164C>A	TOPMed,gnomAD
rs1184200053	p.Val94Ile	missense variant	-	NC_000016.10:g.119164C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val94Ala	missense variant	-	NC_000016.10:g.119163A>G	NCI-TCGA
rs374486402	p.His96Tyr	missense variant	-	NC_000016.10:g.119158G>A	ESP,ExAC,TOPMed,gnomAD
rs775744150	p.Pro97Ala	missense variant	-	NC_000016.10:g.119155G>C	ExAC,TOPMed,gnomAD
rs924048126	p.Pro97Leu	missense variant	-	NC_000016.10:g.119154G>A	gnomAD
rs924048126	p.Pro97Arg	missense variant	-	NC_000016.10:g.119154G>C	gnomAD
rs1262273277	p.His102Tyr	missense variant	-	NC_000016.10:g.119140G>A	gnomAD
rs1215657187	p.Gln106Lys	missense variant	-	NC_000016.10:g.119128G>T	TOPMed
rs1233680517	p.Ile107Val	missense variant	-	NC_000016.10:g.117375T>C	gnomAD
NCI-TCGA novel	p.Ser108Phe	missense variant	-	NC_000016.10:g.117371G>A	NCI-TCGA
rs1323282813	p.Lys109Arg	missense variant	-	NC_000016.10:g.117368T>C	gnomAD
rs770047002	p.Asp111Glu	missense variant	-	NC_000016.10:g.117361A>C	ExAC,TOPMed,gnomAD
COSM3402111	p.Asp111His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.117363C>G	NCI-TCGA Cosmic
rs373215354	p.Pro112Leu	missense variant	-	NC_000016.10:g.117359G>A	ESP,TOPMed
rs1334111797	p.Pro112Ala	missense variant	-	NC_000016.10:g.117360G>C	gnomAD
rs979345384	p.Pro114Leu	missense variant	-	NC_000016.10:g.117353G>A	TOPMed
COSM4058659	p.Pro114Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.117354G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala118Glu	missense variant	-	NC_000016.10:g.117341G>T	NCI-TCGA
rs1245875822	p.Leu123Phe	missense variant	-	NC_000016.10:g.117327G>A	TOPMed
COSM262459	p.Leu123Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.117327G>T	NCI-TCGA Cosmic
rs772186484	p.Phe124Leu	missense variant	-	NC_000016.10:g.117324A>G	ExAC,gnomAD
rs545827828	p.Phe124Ser	missense variant	-	NC_000016.10:g.117323A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Phe124LeuPheSerTerUnk	frameshift	-	NC_000016.10:g.117322A>-	NCI-TCGA
rs1024335545	p.Val126Ala	missense variant	-	NC_000016.10:g.117317A>G	TOPMed
rs575270246	p.Val126Met	missense variant	-	NC_000016.10:g.117318C>T	1000Genomes,ExAC,gnomAD
rs1164870312	p.Val127Leu	missense variant	-	NC_000016.10:g.117315C>A	gnomAD
rs748774765	p.Phe128Ser	missense variant	-	NC_000016.10:g.117311A>G	ExAC,gnomAD
rs779627025	p.Phe128Leu	missense variant	-	NC_000016.10:g.117310A>C	ExAC,TOPMed,gnomAD
rs755783739	p.Ala129Val	missense variant	-	NC_000016.10:g.117308G>A	ExAC,gnomAD
rs1195082438	p.Leu130Val	missense variant	-	NC_000016.10:g.117306G>C	gnomAD
rs1439082132	p.Leu130Pro	missense variant	-	NC_000016.10:g.117305A>G	TOPMed
rs768624471	p.Asn133Ser	missense variant	-	NC_000016.10:g.112771T>C	ExAC,gnomAD
rs779581743	p.Ala134Thr	missense variant	-	NC_000016.10:g.112769C>T	ExAC,TOPMed,gnomAD
rs1205797247	p.Ala134Gly	missense variant	-	NC_000016.10:g.112768G>C	TOPMed
rs769482319	p.Pro136Thr	missense variant	-	NC_000016.10:g.112763G>T	ExAC,gnomAD
rs547462000	p.Pro136Leu	missense variant	-	NC_000016.10:g.112762G>A	ExAC,gnomAD
rs547462000	p.Pro136Gln	missense variant	-	NC_000016.10:g.112762G>T	ExAC,gnomAD
rs1249139385	p.Val138Leu	missense variant	-	NC_000016.10:g.112757C>G	gnomAD
RCV000700825	p.Leu142Ter	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.112746_112749del	ClinVar
rs959374963	p.His143Arg	missense variant	-	NC_000016.10:g.112741T>C	TOPMed,gnomAD
rs764927474	p.His143Tyr	missense variant	-	NC_000016.10:g.112742G>A	ExAC,gnomAD
rs1429050749	p.Ser146Ala	missense variant	-	NC_000016.10:g.112733A>C	TOPMed
RCV000627649	p.Ser146Ter	frameshift	-	NC_000016.10:g.112734del	ClinVar
rs202129021	p.Arg147Cys	missense variant	-	NC_000016.10:g.112730G>A	ESP,ExAC,TOPMed,gnomAD
rs1470285968	p.Arg147His	missense variant	-	NC_000016.10:g.112729C>T	gnomAD
rs201069648	p.Arg148Cys	missense variant	-	NC_000016.10:g.112727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1470708324	p.Arg148His	missense variant	-	NC_000016.10:g.112726C>T	TOPMed
rs766649807	p.Ala150Thr	missense variant	-	NC_000016.10:g.112721C>T	ExAC,gnomAD
rs539649449	p.Val152Met	missense variant	-	NC_000016.10:g.112715C>T	1000Genomes,TOPMed,gnomAD
rs374060440	p.Glu156Lys	missense variant	-	NC_000016.10:g.112703C>T	ESP,ExAC,TOPMed,gnomAD
rs1324954418	p.Glu156Gly	missense variant	-	NC_000016.10:g.112702T>C	gnomAD
rs762922931	p.Glu157Gly	missense variant	-	NC_000016.10:g.112699T>C	ExAC,gnomAD
rs1215682749	p.Arg158His	missense variant	-	NC_000016.10:g.112696C>T	TOPMed
rs775239262	p.Arg158Cys	missense variant	-	NC_000016.10:g.112697G>A	ExAC,gnomAD
rs775239262	p.Arg158Ser	missense variant	-	NC_000016.10:g.112697G>T	ExAC,gnomAD
rs769300436	p.Arg159Cys	missense variant	-	NC_000016.10:g.112694G>A	ExAC,TOPMed,gnomAD
rs370299128	p.Arg159His	missense variant	-	NC_000016.10:g.112693C>T	ESP,ExAC,TOPMed,gnomAD
rs1393822175	p.Cys160Tyr	missense variant	-	NC_000016.10:g.112690C>T	gnomAD
rs770570210	p.Arg165Gln	missense variant	-	NC_000016.10:g.112675C>T	ExAC,TOPMed,gnomAD
rs1324142773	p.Arg165Gly	missense variant	-	NC_000016.10:g.112676G>C	gnomAD
rs569119130	p.Ala167Thr	missense variant	-	NC_000016.10:g.112670C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1408296201	p.Ala167Val	missense variant	-	NC_000016.10:g.112669G>A	gnomAD
rs778177582	p.Ala172Val	missense variant	-	NC_000016.10:g.112654G>A	ExAC,TOPMed,gnomAD
rs753280871	p.Leu173Phe	missense variant	-	NC_000016.10:g.112652G>A	ExAC,gnomAD
COSM4390100	p.Asp175Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.112646C>T	NCI-TCGA Cosmic
rs755120736	p.Ala179Thr	missense variant	-	NC_000016.10:g.112634C>T	ExAC,TOPMed,gnomAD
rs1452724103	p.Ala181Val	missense variant	-	NC_000016.10:g.112627G>A	gnomAD
rs766774400	p.Ala181Thr	missense variant	-	NC_000016.10:g.112628C>T	ExAC,TOPMed,gnomAD
COSM3817298	p.Gly183Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.110606C>G	NCI-TCGA Cosmic
rs73478320	p.Asn184His	missense variant	-	NC_000016.10:g.110604T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000525689	p.Asn184His	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.110604T>G	ClinVar
rs1305766338	p.Asn184Ser	missense variant	-	NC_000016.10:g.110603T>C	gnomAD
rs1188792699	p.Glu185Gln	missense variant	-	NC_000016.10:g.110601C>G	TOPMed
rs1423126301	p.Pro187Leu	missense variant	-	NC_000016.10:g.110594G>A	TOPMed
rs191687929	p.Gln188Arg	missense variant	-	NC_000016.10:g.110591T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs191687929	p.Gln188Pro	missense variant	-	NC_000016.10:g.110591T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs530516163	p.Pro190Leu	missense variant	-	NC_000016.10:g.110585G>A	1000Genomes,ExAC,gnomAD
rs752486246	p.Phe191Cys	missense variant	-	NC_000016.10:g.110582A>C	ExAC,gnomAD
rs1367511037	p.His193Tyr	missense variant	-	NC_000016.10:g.110577G>A	gnomAD
rs956042191	p.Cys198Phe	missense variant	-	NC_000016.10:g.110561C>A	gnomAD
rs956042191	p.Cys198Tyr	missense variant	-	NC_000016.10:g.110561C>T	gnomAD
rs186859701	p.Lys199Asn	missense variant	-	NC_000016.10:g.110557C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1199667995	p.Arg202Lys	missense variant	-	NC_000016.10:g.110549C>T	gnomAD
rs1490755071	p.Leu204Ile	missense variant	-	NC_000016.10:g.110544G>T	TOPMed,gnomAD
rs1490755071	p.Leu204Phe	missense variant	-	NC_000016.10:g.110544G>A	TOPMed,gnomAD
rs772928538	p.Lys205Met	missense variant	-	NC_000016.10:g.110540T>A	ExAC,TOPMed,gnomAD
rs769173039	p.Cys212Trp	missense variant	-	NC_000016.10:g.100503G>C	ExAC,TOPMed,gnomAD
rs1428801686	p.Cys212Tyr	missense variant	-	NC_000016.10:g.100504C>T	gnomAD
rs776199294	p.Thr213Met	missense variant	-	NC_000016.10:g.100501G>A	ExAC,TOPMed,gnomAD
rs763341816	p.Thr213Ala	missense variant	-	NC_000016.10:g.100502T>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr213Arg	missense variant	-	NC_000016.10:g.100501G>C	NCI-TCGA
rs556232826	p.Ser214Leu	missense variant	-	NC_000016.10:g.100498G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser214Pro	missense variant	-	NC_000016.10:g.100499A>G	NCI-TCGA
RCV000555683	p.Ser214Leu	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100498G>A	ClinVar
rs747266609	p.Val216Ile	missense variant	-	NC_000016.10:g.100493C>T	ExAC,gnomAD
rs201341279	p.Arg218Pro	missense variant	-	NC_000016.10:g.100486C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201341279	p.Arg218Gln	missense variant	-	NC_000016.10:g.100486C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201957188	p.Arg218Trp	missense variant	-	NC_000016.10:g.100487G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1226289044	p.His220Tyr	missense variant	-	NC_000016.10:g.100481G>A	gnomAD
rs780102496	p.Ile221Asn	missense variant	-	NC_000016.10:g.100477A>T	ExAC,gnomAD
rs1400492029	p.Glu226Lys	missense variant	-	NC_000016.10:g.100463C>T	gnomAD
NCI-TCGA novel	p.Phe229SerPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.100453A>-	NCI-TCGA
rs1302696363	p.Leu231Pro	missense variant	-	NC_000016.10:g.100447A>G	gnomAD
rs1355924031	p.Pro232Ala	missense variant	-	NC_000016.10:g.100445G>C	gnomAD
rs1448374665	p.Ile235Val	missense variant	-	NC_000016.10:g.100436T>C	gnomAD
rs766958453	p.Ile235Met	missense variant	-	NC_000016.10:g.100434G>C	ExAC,gnomAD
rs761366554	p.Ala238Val	missense variant	-	NC_000016.10:g.100426G>A	ExAC,TOPMed,gnomAD
rs1215191829	p.Ala239Asp	missense variant	-	NC_000016.10:g.100423G>T	TOPMed
rs1255211374	p.Ser241Arg	missense variant	-	NC_000016.10:g.100418T>G	gnomAD
rs1225559784	p.Pro244Ser	missense variant	-	NC_000016.10:g.100409G>A	TOPMed
rs763479734	p.Pro245Gln	missense variant	-	NC_000016.10:g.100405G>T	ExAC,gnomAD
rs763779646	p.Pro245Ala	missense variant	-	NC_000016.10:g.100406G>C	ExAC,gnomAD
rs1206603832	p.Glu246Lys	missense variant	-	NC_000016.10:g.100403C>T	TOPMed
rs1243726109	p.Ile248Phe	missense variant	-	NC_000016.10:g.100397T>A	TOPMed
rs375592476	p.Ile248Met	missense variant	-	NC_000016.10:g.100395G>C	ESP,ExAC,TOPMed,gnomAD
rs200041907	p.Glu249Lys	missense variant	-	NC_000016.10:g.100394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200041907	p.Glu249Lys	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100394C>T	UniProt,dbSNP
VAR_077127	p.Glu249Lys	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100394C>T	UniProt
rs577935445	p.Arg250Trp	missense variant	-	NC_000016.10:g.100391G>A	ExAC,TOPMed,gnomAD
rs947759739	p.Arg250Gln	missense variant	-	NC_000016.10:g.100390C>T	TOPMed
RCV000653295	p.Arg250Trp	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100391G>A	ClinVar
rs770924192	p.Ser251Arg	missense variant	-	NC_000016.10:g.100386G>T	ExAC,TOPMed,gnomAD
rs916257624	p.Ser251Asn	missense variant	-	NC_000016.10:g.100387C>T	TOPMed
rs747035776	p.Leu252Pro	missense variant	-	NC_000016.10:g.100384A>G	ExAC,TOPMed,gnomAD
rs772274896	p.Ala254Thr	missense variant	-	NC_000016.10:g.100379C>T	ExAC,gnomAD
rs755889116	p.Arg256His	missense variant	-	NC_000016.10:g.100372C>T	ExAC,gnomAD
rs779688768	p.Arg256Cys	missense variant	-	NC_000016.10:g.100373G>A	ExAC,TOPMed,gnomAD
rs779688768	p.Arg256Ser	missense variant	-	NC_000016.10:g.100373G>T	ExAC,TOPMed,gnomAD
rs779688768	p.Arg256Gly	missense variant	-	NC_000016.10:g.100373G>C	ExAC,TOPMed,gnomAD
rs746568841	p.Pro257Ala	missense variant	-	NC_000016.10:g.98300G>C	ExAC,TOPMed,gnomAD
COSM967265	p.Leu261Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.98288G>T	NCI-TCGA Cosmic
rs1270808503	p.Leu263Pro	missense variant	-	NC_000016.10:g.98281A>G	TOPMed,gnomAD
rs777449086	p.Asp266Val	missense variant	-	NC_000016.10:g.98272T>A	ExAC
NCI-TCGA novel	p.Glu267Ala	missense variant	-	NC_000016.10:g.98269T>G	NCI-TCGA
COSM283348	p.Glu267Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.98268C>A	NCI-TCGA Cosmic
rs1201033319	p.Gly272Ser	missense variant	-	NC_000016.10:g.98255C>T	gnomAD
rs375410124	p.Gly272Asp	missense variant	-	NC_000016.10:g.98254C>T	1000Genomes,ESP,TOPMed,gnomAD
rs757942313	p.Glu273Asp	missense variant	-	NC_000016.10:g.98250C>G	ExAC,gnomAD
rs752301363	p.Leu274Phe	missense variant	-	NC_000016.10:g.98249G>A	ExAC,gnomAD
rs1331924887	p.Pro275Ala	missense variant	-	NC_000016.10:g.98246G>C	gnomAD
COSM967263	p.Pro275His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.98245G>T	NCI-TCGA Cosmic
rs764890667	p.Ile276Val	missense variant	-	NC_000016.10:g.98243T>C	ExAC,TOPMed,gnomAD
rs1228174298	p.Cys278Tyr	missense variant	-	NC_000016.10:g.98236C>T	gnomAD
RCV000241451	p.Ser279Ter	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.98234dup	ClinVar
rs1376159152	p.Ser279Phe	missense variant	-	NC_000016.10:g.98233G>A	TOPMed
NCI-TCGA novel	p.Ala281CysPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.98229_98230insG	NCI-TCGA
rs1399562667	p.Ala281Val	missense variant	-	NC_000016.10:g.98227G>A	TOPMed
rs1323740837	p.Ala281Thr	missense variant	-	NC_000016.10:g.98228C>T	gnomAD
rs755359263	p.Leu282Val	missense variant	-	NC_000016.10:g.98225G>C	ExAC,gnomAD
rs766908016	p.Arg284Trp	missense variant	-	NC_000016.10:g.98219G>A	ExAC,TOPMed,gnomAD
rs1437185591	p.Arg284Leu	missense variant	-	NC_000016.10:g.98218C>A	gnomAD
rs373936494	p.Val285Met	missense variant	-	NC_000016.10:g.98216C>T	ESP,TOPMed
rs369959139	p.Ile286Phe	missense variant	-	NC_000016.10:g.98213T>A	ESP,ExAC,gnomAD
rs773656881	p.Lys287Thr	missense variant	-	NC_000016.10:g.98209T>G	ExAC,gnomAD
rs774447369	p.Thr288Ile	missense variant	-	NC_000016.10:g.98206G>A	ExAC,TOPMed,gnomAD
rs774447369	p.Thr288Asn	missense variant	-	NC_000016.10:g.98206G>T	ExAC,TOPMed,gnomAD
rs768908442	p.Ser290Cys	missense variant	-	NC_000016.10:g.98200G>C	ExAC,gnomAD
rs1377133061	p.Ala291Ser	missense variant	-	NC_000016.10:g.98198C>A	gnomAD
rs776547727	p.Asn294Ile	missense variant	-	NC_000016.10:g.98188T>A	ExAC,TOPMed,gnomAD
rs1231913439	p.Gln296Arg	missense variant	-	NC_000016.10:g.98182T>C	TOPMed,gnomAD
rs1246746750	p.Leu298Val	missense variant	-	NC_000016.10:g.98177G>C	gnomAD
rs746975723	p.Gln300Ter	stop gained	-	NC_000016.10:g.98171G>A	ExAC,gnomAD
rs777790535	p.Ala302Val	missense variant	-	NC_000016.10:g.98164G>A	ExAC,gnomAD
RCV000653299	p.Gln308Ter	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.98146_98147dup	ClinVar
rs1168112146	p.Leu312Phe	missense variant	-	NC_000016.10:g.93316G>A	gnomAD
rs1406394405	p.Leu312Pro	missense variant	-	NC_000016.10:g.93315A>G	gnomAD
rs1416610172	p.Ala313Glu	missense variant	-	NC_000016.10:g.93312G>T	gnomAD
rs772044858	p.His315Tyr	missense variant	-	NC_000016.10:g.93307G>A	ExAC,TOPMed,gnomAD
rs1253043821	p.Val317Met	missense variant	-	NC_000016.10:g.93301C>T	TOPMed,gnomAD
rs1253043821	p.Val317Leu	missense variant	-	NC_000016.10:g.93301C>A	TOPMed,gnomAD
rs375417903	p.Gly320Ser	missense variant	-	NC_000016.10:g.93292C>T	ESP,ExAC,TOPMed,gnomAD
rs1222598806	p.Ala322Val	missense variant	-	NC_000016.10:g.93285G>A	gnomAD
rs1164974252	p.Ile324Met	missense variant	-	NC_000016.10:g.93278G>C	TOPMed,gnomAD
rs1323377923	p.Ile325Thr	missense variant	-	NC_000016.10:g.93276A>G	gnomAD
rs748965799	p.Cys329Gly	missense variant	-	NC_000016.10:g.93265A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn331Ser	missense variant	-	NC_000016.10:g.93258T>C	NCI-TCGA
rs1348867235	p.Asn331Lys	missense variant	-	NC_000016.10:g.93257G>C	gnomAD
rs1307437472	p.Asn332Ser	missense variant	-	NC_000016.10:g.93255T>C	gnomAD
rs1307437472	p.Asn332Thr	missense variant	-	NC_000016.10:g.93255T>G	gnomAD
rs367664536	p.Val333Ile	missense variant	-	NC_000016.10:g.93253C>T	ESP,ExAC,TOPMed,gnomAD
RCV000532069	p.Val333Ile	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.93253C>T	ClinVar
rs1413146908	p.Met335Ile	missense variant	-	NC_000016.10:g.93245C>T	gnomAD
rs1405349026	p.Met335Val	missense variant	-	NC_000016.10:g.93247T>C	gnomAD
rs1351072755	p.Met335Thr	missense variant	-	NC_000016.10:g.93246A>G	TOPMed
rs1161911658	p.Leu336Pro	missense variant	-	NC_000016.10:g.93243A>G	gnomAD
rs750771818	p.Asn339Asp	missense variant	-	NC_000016.10:g.93235T>C	ExAC,gnomAD
rs1250640658	p.Asn339Ser	missense variant	-	NC_000016.10:g.93234T>C	gnomAD
rs1191225730	p.Ala340Ser	missense variant	-	NC_000016.10:g.93232C>A	gnomAD
rs1436595621	p.Ser341Cys	missense variant	-	NC_000016.10:g.93229T>A	TOPMed
RCV000653310	p.Val342Leu	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.93226C>A	ClinVar
rs11558704	p.Val342Ile	missense variant	-	NC_000016.10:g.93226C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs11558704	p.Val342Leu	missense variant	-	NC_000016.10:g.93226C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs11558704	p.Val342Leu	missense variant	-	NC_000016.10:g.93226C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1338036697	p.Tyr345Ser	missense variant	-	NC_000016.10:g.92723T>G	TOPMed,gnomAD
rs1218740557	p.Ser346Pro	missense variant	-	NC_000016.10:g.92721A>G	gnomAD
rs1218740557	p.Ser346Ala	missense variant	-	NC_000016.10:g.92721A>C	gnomAD
rs765599501	p.Pro347Ser	missense variant	-	NC_000016.10:g.92718G>A	ExAC,TOPMed
rs755232774	p.Pro347Leu	missense variant	-	NC_000016.10:g.92717G>A	ExAC,TOPMed,gnomAD
rs1388346755	p.Ala349Thr	missense variant	-	NC_000016.10:g.92712C>T	TOPMed,gnomAD
rs761443880	p.Glu350Lys	missense variant	-	NC_000016.10:g.92709C>T	ExAC,TOPMed,gnomAD
rs1290969293	p.Phe352Leu	missense variant	-	NC_000016.10:g.92703A>G	TOPMed
COSM115898	p.Ser353Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.92699G>C	NCI-TCGA Cosmic
rs1487183768	p.Gln355His	missense variant	-	NC_000016.10:g.92692C>G	TOPMed
rs1229321872	p.Phe356Leu	missense variant	-	NC_000016.10:g.92689G>C	TOPMed,gnomAD
RCV000241093	p.Pro357Ter	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.92689del	ClinVar
rs1357083065	p.Pro357Leu	missense variant	-	NC_000016.10:g.92687G>A	gnomAD
rs1039004556	p.Ser358Phe	missense variant	-	NC_000016.10:g.92684G>A	TOPMed,gnomAD
rs1039004556	p.Ser358Cys	missense variant	-	NC_000016.10:g.92684G>C	TOPMed,gnomAD
RCV000558878	p.Ser358Phe	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.92684G>A	ClinVar
rs1174688982	p.Leu361Met	missense variant	-	NC_000016.10:g.92676G>T	gnomAD
rs763923760	p.Pro362Gln	missense variant	-	NC_000016.10:g.92672G>T	ExAC,TOPMed,gnomAD
rs763923760	p.Pro362Leu	missense variant	-	NC_000016.10:g.92672G>A	ExAC,TOPMed,gnomAD
rs769246932	p.Val364Ile	missense variant	-	NC_000016.10:g.92667C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys367Asn	missense variant	-	NC_000016.10:g.92656C>A	NCI-TCGA
rs776081581	p.Lys367Arg	missense variant	-	NC_000016.10:g.92657T>C	ExAC,TOPMed,gnomAD
rs1050077507	p.Ser369Cys	missense variant	-	NC_000016.10:g.92651G>C	TOPMed,gnomAD
rs1050077507	p.Ser369Phe	missense variant	-	NC_000016.10:g.92651G>A	TOPMed,gnomAD
rs747324879	p.Pro371Leu	missense variant	-	NC_000016.10:g.92645G>A	ExAC,TOPMed,gnomAD
rs748290133	p.Val372Ile	missense variant	-	NC_000016.10:g.92643C>T	ExAC
rs1276927890	p.Ser375Ter	stop gained	-	NC_000016.10:g.92633G>T	gnomAD
NCI-TCGA novel	p.Glu376Ter	stop gained	-	NC_000016.10:g.92631C>A	NCI-TCGA
rs1192413790	p.Phe377Leu	missense variant	-	NC_000016.10:g.92626A>C	gnomAD
rs755067236	p.Pro380Leu	missense variant	-	NC_000016.10:g.92618G>A	ExAC,gnomAD
rs1311832660	p.Ala382Thr	missense variant	-	NC_000016.10:g.92613C>T	TOPMed
rs375562061	p.Ala382Val	missense variant	-	NC_000016.10:g.92612G>A	ExAC,gnomAD
rs751307143	p.Ala384Thr	missense variant	-	NC_000016.10:g.92607C>T	ExAC,gnomAD
rs1371859768	p.Gln386Glu	missense variant	-	NC_000016.10:g.92601G>C	gnomAD
rs758123622	p.Thr388Ile	missense variant	-	NC_000016.10:g.89901G>A	ExAC,gnomAD
rs758123622	p.Thr388Asn	missense variant	-	NC_000016.10:g.89901G>T	ExAC,gnomAD
rs777576598	p.Thr388Ser	missense variant	-	NC_000016.10:g.89902T>A	ExAC,gnomAD
RCV000690320	p.Gln389Lys	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89899G>T	ClinVar
rs1212141280	p.Gln389His	missense variant	-	NC_000016.10:g.89897C>G	gnomAD
rs1331117963	p.Gln389Lys	missense variant	-	NC_000016.10:g.89899G>T	TOPMed
RCV000760732	p.Gln399Ter	nonsense	-	NC_000016.10:g.89869G>A	ClinVar
rs556683821	p.Arg400Cys	missense variant	-	NC_000016.10:g.89866G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs535478389	p.Arg400His	missense variant	-	NC_000016.10:g.89865C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs868451771	p.Arg401Gln	missense variant	-	NC_000016.10:g.89862C>T	TOPMed,gnomAD
rs375530015	p.Arg401Trp	missense variant	-	NC_000016.10:g.89863G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs899497821	p.Leu402Phe	missense variant	-	NC_000016.10:g.89860G>A	TOPMed,gnomAD
RCV000547132	p.Gln405His	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89849C>G	ClinVar
rs1426917813	p.Gln405His	missense variant	-	NC_000016.10:g.89849C>G	gnomAD
rs762208602	p.Thr408Asn	missense variant	-	NC_000016.10:g.89841G>T	ExAC,gnomAD
rs775053528	p.Tyr409Cys	missense variant	-	NC_000016.10:g.89838T>C	ExAC,TOPMed,gnomAD
rs769281225	p.Cys411Phe	missense variant	-	NC_000016.10:g.89832C>A	ExAC,gnomAD
RCV000421348	p.Met413Ile	missense variant	-	NC_000016.10:g.89825C>T	ClinVar
rs1057524503	p.Met413Ile	missense variant	-	NC_000016.10:g.89825C>T	gnomAD
rs1378274030	p.Met413Arg	missense variant	-	NC_000016.10:g.89826A>C	gnomAD
rs749424318	p.Met413Val	missense variant	-	NC_000016.10:g.89827T>C	ExAC,gnomAD
rs546525405	p.Ser415Pro	missense variant	-	NC_000016.10:g.89821A>G	1000Genomes,ExAC,gnomAD
RCV000559690	p.Ser415Pro	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89821A>G	ClinVar
rs890844593	p.Pro416Thr	missense variant	-	NC_000016.10:g.89818G>T	TOPMed,gnomAD
RCV000514367	p.Pro416Leu	missense variant	-	NC_000016.10:g.89817G>A	ClinVar
rs746082270	p.Pro416Leu	missense variant	-	NC_000016.10:g.89817G>A	ExAC,TOPMed,gnomAD
rs547498080	p.Glu418Lys	missense variant	-	NC_000016.10:g.89812C>T	ExAC,TOPMed,gnomAD
RCV000535363	p.Glu418Lys	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89812C>T	ClinVar
rs1183300636	p.Glu419Gln	missense variant	-	NC_000016.10:g.89809C>G	gnomAD
rs752486321	p.Glu419Gly	missense variant	-	NC_000016.10:g.89808T>C	ExAC,gnomAD
rs374777389	p.Glu420Lys	missense variant	-	NC_000016.10:g.89806C>T	ESP,ExAC,TOPMed,gnomAD
rs374777389	p.Glu420Gln	missense variant	-	NC_000016.10:g.89806C>G	ESP,ExAC,TOPMed,gnomAD
rs1228580630	p.Glu420Val	missense variant	-	NC_000016.10:g.89805T>A	TOPMed
rs570335978	p.Pro421Ser	missense variant	-	NC_000016.10:g.89803G>A	1000Genomes,ExAC
rs753763592	p.Arg422Cys	missense variant	-	NC_000016.10:g.89800G>A	ExAC,TOPMed,gnomAD
rs753763592	p.Arg422Gly	missense variant	-	NC_000016.10:g.89800G>C	ExAC,TOPMed,gnomAD
rs765841003	p.Arg422His	missense variant	-	NC_000016.10:g.89799C>T	ExAC,TOPMed,gnomAD
COSM6143491	p.Arg422Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.89799C>G	NCI-TCGA Cosmic
rs200792895	p.Pro423Gln	missense variant	-	NC_000016.10:g.89796G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000653297	p.Pro423Leu	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89796G>A	ClinVar
rs200792895	p.Pro423Leu	missense variant	-	NC_000016.10:g.89796G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774824617	p.Arg424Gln	missense variant	-	NC_000016.10:g.89793C>T	ExAC,gnomAD
RCV000686880	p.Arg424Ter	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89794dup	ClinVar
rs886037961	p.Arg424Ter	stop gained	-	NC_000016.10:g.89794G>A	gnomAD
RCV000241508	p.Arg424Ter	nonsense	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89794G>A	ClinVar
RCV000548406	p.Asp426Glu	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89786G>C	ClinVar
rs764744840	p.Asp426Gly	missense variant	-	NC_000016.10:g.89787T>C	ExAC
rs74712570	p.Asp426Glu	missense variant	-	NC_000016.10:g.89786G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769778379	p.Asp427Asn	missense variant	-	NC_000016.10:g.89785C>T	ExAC,TOPMed,gnomAD
rs745950066	p.Asp427Val	missense variant	-	NC_000016.10:g.89784T>A	ExAC,gnomAD
rs771113936	p.Val428Leu	missense variant	-	NC_000016.10:g.89782C>G	ExAC,gnomAD
rs771113936	p.Val428Ile	missense variant	-	NC_000016.10:g.89782C>T	ExAC,gnomAD
rs747988593	p.Val428Ala	missense variant	-	NC_000016.10:g.89781A>G	ExAC,gnomAD
rs1192935252	p.Pro429His	missense variant	-	NC_000016.10:g.89778G>T	gnomAD
rs1246498899	p.Pro429Ala	missense variant	-	NC_000016.10:g.89779G>C	gnomAD
rs372094629	p.Arg433Trp	missense variant	-	NC_000016.10:g.89767G>A	ESP,ExAC,TOPMed,gnomAD
rs781225056	p.Arg433Gln	missense variant	-	NC_000016.10:g.89766C>T	ExAC,TOPMed,gnomAD
rs747774969	p.Gly435Ser	missense variant	-	NC_000016.10:g.89761C>T	TOPMed
NCI-TCGA novel	p.Gly436Asp	missense variant	-	NC_000016.10:g.89757C>T	NCI-TCGA
rs548390527	p.Gly436Ser	missense variant	-	NC_000016.10:g.89758C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767317111	p.Gly436Val	missense variant	-	NC_000016.10:g.89757C>A	ExAC,TOPMed,gnomAD
rs530150587	p.Arg437Cys	missense variant	-	NC_000016.10:g.89755G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751207437	p.Arg437His	missense variant	-	NC_000016.10:g.89754C>T	ExAC,gnomAD
COSM6143494	p.Arg437Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.89754C>A	NCI-TCGA Cosmic
rs763320453	p.Leu439Phe	missense variant	-	NC_000016.10:g.89749G>A	ExAC,TOPMed,gnomAD
rs775920155	p.Ser440Gly	missense variant	-	NC_000016.10:g.89746T>C	ExAC,gnomAD
rs765772689	p.Ser440Asn	missense variant	-	NC_000016.10:g.89745C>T	ExAC,gnomAD
rs776673140	p.Thr441Met	missense variant	-	NC_000016.10:g.89742G>A	ExAC,TOPMed,gnomAD
rs368198378	p.Ala444Thr	missense variant	-	NC_000016.10:g.89734C>T	ESP,ExAC,gnomAD
rs1485179848	p.Ala444Val	missense variant	-	NC_000016.10:g.89733G>A	gnomAD
rs1038155546	p.Leu445Phe	missense variant	-	NC_000016.10:g.89731G>A	gnomAD
rs1038155546	p.Leu445Val	missense variant	-	NC_000016.10:g.89731G>C	gnomAD
rs1555439773	p.Ser446Arg	missense variant	-	NC_000016.10:g.89726G>C	-
rs1339919248	p.Ser446Ile	missense variant	-	NC_000016.10:g.89727C>A	gnomAD
RCV000513513	p.Ser446Arg	missense variant	-	NC_000016.10:g.89726G>C	ClinVar
rs941137627	p.Pro450Ser	missense variant	-	NC_000016.10:g.89716G>A	TOPMed,gnomAD
rs1358180656	p.Thr451Pro	missense variant	-	NC_000016.10:g.89713T>G	gnomAD
COSM5093753	p.Ser453Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.88884C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp455Val	missense variant	-	NC_000016.10:g.88878T>A	NCI-TCGA
rs1213665281	p.Met456Ile	missense variant	-	NC_000016.10:g.88874C>T	TOPMed,gnomAD
rs1283581177	p.Thr459Ser	missense variant	-	NC_000016.10:g.88866G>C	gnomAD
RCV000241321	p.Ser460Ter	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88867_88868dup	ClinVar
rs1219912132	p.Ser460Arg	missense variant	-	NC_000016.10:g.88864T>G	gnomAD
rs777332376	p.Met463Val	missense variant	-	NC_000016.10:g.88855T>C	ExAC,gnomAD
rs1301844770	p.Ser466Phe	missense variant	-	NC_000016.10:g.88845G>A	gnomAD
rs1328766913	p.Ser467Asn	missense variant	-	NC_000016.10:g.88842C>T	gnomAD
rs752246132	p.Ala468Thr	missense variant	-	NC_000016.10:g.88840C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu469Ter	stop gained	-	NC_000016.10:g.88837C>A	NCI-TCGA
rs779369917	p.Glu469Lys	missense variant	-	NC_000016.10:g.88837C>T	ExAC,gnomAD
rs376589453	p.Glu469Asp	missense variant	-	NC_000016.10:g.88835C>G	ESP,ExAC,TOPMed,gnomAD
rs374687256	p.Gly474Arg	missense variant	-	NC_000016.10:g.88822C>T	ESP,ExAC,TOPMed,gnomAD
rs903336173	p.Gly474Glu	missense variant	-	NC_000016.10:g.88821C>T	TOPMed
rs750482582	p.Ser476Leu	missense variant	-	NC_000016.10:g.88815G>A	ExAC,TOPMed,gnomAD
rs1180529722	p.Pro477Ser	missense variant	-	NC_000016.10:g.88813G>A	TOPMed
rs774394208	p.Leu478Arg	missense variant	-	NC_000016.10:g.88809A>C	ExAC,gnomAD
rs774394208	p.Leu478Pro	missense variant	-	NC_000016.10:g.88809A>G	ExAC,gnomAD
rs1484989339	p.Gln480Arg	missense variant	-	NC_000016.10:g.88803T>C	gnomAD
rs769714857	p.Met482Ile	missense variant	-	NC_000016.10:g.88796C>T	ExAC,gnomAD
rs1055200832	p.Thr483Met	missense variant	-	NC_000016.10:g.88794G>A	gnomAD
rs746552103	p.Asn485Lys	missense variant	-	NC_000016.10:g.88787G>T	ExAC,gnomAD
rs770962003	p.Asn485Thr	missense variant	-	NC_000016.10:g.88788T>G	ExAC,gnomAD
rs770962003	p.Asn485Ser	missense variant	-	NC_000016.10:g.88788T>C	ExAC,gnomAD
rs777367602	p.Leu486Met	missense variant	-	NC_000016.10:g.88786G>T	ExAC,gnomAD
rs771445719	p.Leu487Arg	missense variant	-	NC_000016.10:g.88782A>C	ExAC,gnomAD
rs771445719	p.Leu487Pro	missense variant	-	NC_000016.10:g.88782A>G	ExAC,gnomAD
rs755389478	p.Ala488Val	missense variant	-	NC_000016.10:g.88779G>A	ExAC,gnomAD
rs778377009	p.Ala488Pro	missense variant	-	NC_000016.10:g.88780C>G	ExAC,gnomAD
rs1401753652	p.Leu490Pro	missense variant	-	NC_000016.10:g.88773A>G	TOPMed
rs754194124	p.Ser491Trp	missense variant	-	NC_000016.10:g.88770G>C	ExAC,gnomAD
rs754194124	p.Ser491Leu	missense variant	-	NC_000016.10:g.88770G>A	ExAC,gnomAD
rs1164696887	p.His493Pro	missense variant	-	NC_000016.10:g.88764T>G	TOPMed
rs750844568	p.Arg495His	missense variant	-	NC_000016.10:g.88758C>T	ExAC,TOPMed,gnomAD
rs756589112	p.Arg495Cys	missense variant	-	NC_000016.10:g.88759G>A	ExAC,TOPMed,gnomAD
rs58036849	p.Ala496Thr	missense variant	-	NC_000016.10:g.88756C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000536843	p.Ala496Thr	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88756C>T	ClinVar
rs377485939	p.Ala497Thr	missense variant	-	NC_000016.10:g.88753C>T	ESP,ExAC,TOPMed,gnomAD
rs1210279714	p.Leu499Phe	missense variant	-	NC_000016.10:g.88747G>A	gnomAD
NCI-TCGA novel	p.Ser500Gly	missense variant	-	NC_000016.10:g.88744T>C	NCI-TCGA
rs1483643181	p.Ser500Arg	missense variant	-	NC_000016.10:g.88744T>G	gnomAD
rs759446008	p.Val501Ile	missense variant	-	NC_000016.10:g.88741C>T	ExAC,gnomAD
rs372717858	p.Ala503Thr	missense variant	-	NC_000016.10:g.88735C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000653298	p.Gln505Ter	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88724_88728delinsAGCCCCAGAA	ClinVar
rs760699855	p.Gln505Arg	missense variant	-	NC_000016.10:g.88728T>C	ExAC,gnomAD
RCV000653305	p.Asn506Tyr	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88726T>A	ClinVar
rs202015937	p.Asn506Tyr	missense variant	-	NC_000016.10:g.88726T>A	ESP,ExAC,TOPMed,gnomAD
rs1322990502	p.Pro507Ala	missense variant	-	NC_000016.10:g.88723G>C	TOPMed
NCI-TCGA novel	p.Glu508Lys	missense variant	-	NC_000016.10:g.88720C>T	NCI-TCGA
rs375305549	p.Arg511His	missense variant	-	NC_000016.10:g.88710C>T	ESP,ExAC,TOPMed,gnomAD
rs747602641	p.Arg511Cys	missense variant	-	NC_000016.10:g.88711G>A	ExAC,TOPMed,gnomAD
rs768263296	p.Met512Val	missense variant	-	NC_000016.10:g.88708T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe513Ser	missense variant	-	NC_000016.10:g.88704A>G	NCI-TCGA
rs780415806	p.Ala514Gly	missense variant	-	NC_000016.10:g.88701G>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg515Thr	missense variant	-	NC_000016.10:g.88698C>G	NCI-TCGA
rs1166664517	p.Arg515Met	missense variant	-	NC_000016.10:g.88698C>A	gnomAD
rs1237758348	p.His518Arg	missense variant	-	NC_000016.10:g.86862T>C	gnomAD
rs888499146	p.His518Asp	missense variant	-	NC_000016.10:g.86863G>C	TOPMed
rs1331215677	p.Phe520Leu	missense variant	-	NC_000016.10:g.86855G>T	TOPMed,gnomAD
rs1305476231	p.Arg521Cys	missense variant	-	NC_000016.10:g.86854G>A	gnomAD
rs758488510	p.Arg521Leu	missense variant	-	NC_000016.10:g.86853C>A	ExAC,TOPMed,gnomAD
rs758488510	p.Arg521His	missense variant	-	NC_000016.10:g.86853C>T	ExAC,TOPMed,gnomAD
rs752985390	p.Gly522Ser	missense variant	-	NC_000016.10:g.86851C>T	ExAC,gnomAD
rs756009039	p.Arg523His	missense variant	-	NC_000016.10:g.86847C>T	ExAC,TOPMed,gnomAD
rs189283988	p.Arg523Cys	missense variant	-	NC_000016.10:g.86848G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000549345	p.Met530Thr	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.86826A>G	ClinVar
rs1453118437	p.Met530Thr	missense variant	-	NC_000016.10:g.86826A>G	gnomAD
rs767536312	p.Asn532His	missense variant	-	NC_000016.10:g.86821T>G	ExAC,gnomAD
rs763597112	p.Asn532Lys	missense variant	-	NC_000016.10:g.86819G>T	ExAC,TOPMed,gnomAD
rs371517875	p.Asn532Ser	missense variant	-	NC_000016.10:g.86820T>C	ESP,ExAC,gnomAD
rs1319822209	p.Glu533Lys	missense variant	-	NC_000016.10:g.86818C>T	TOPMed
rs762391387	p.Thr535Met	missense variant	-	NC_000016.10:g.86811G>A	ExAC,TOPMed,gnomAD
rs759994243	p.Arg536Gln	missense variant	-	NC_000016.10:g.86808C>T	ExAC,TOPMed,gnomAD
rs769327693	p.Arg536Trp	missense variant	-	NC_000016.10:g.86809G>A	ExAC,TOPMed,gnomAD
rs771288626	p.Arg537His	missense variant	-	NC_000016.10:g.86805C>T	ExAC,TOPMed,gnomAD
rs771288626	p.Arg537Pro	missense variant	-	NC_000016.10:g.86805C>G	ExAC,TOPMed,gnomAD
rs776882707	p.Arg537Cys	missense variant	-	NC_000016.10:g.86806G>A	ExAC,TOPMed,gnomAD
rs185556688	p.Met542Thr	missense variant	-	NC_000016.10:g.86790A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000653311	p.Met542Thr	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.86790A>G	ClinVar
rs748238757	p.Phe544Ser	missense variant	-	NC_000016.10:g.86784A>G	ExAC,gnomAD
rs1043235108	p.Phe547Leu	missense variant	-	NC_000016.10:g.86774G>C	gnomAD
rs367598130	p.Arg548His	missense variant	-	NC_000016.10:g.86772C>T	ESP,ExAC,TOPMed,gnomAD
rs367598130	p.Arg548Leu	missense variant	-	NC_000016.10:g.86772C>A	ESP,ExAC,TOPMed,gnomAD
rs193221958	p.Arg548Ser	missense variant	-	NC_000016.10:g.86773G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs193221958	p.Arg548Cys	missense variant	-	NC_000016.10:g.86773G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1191944943	p.Ser549Arg	missense variant	-	NC_000016.10:g.86768G>C	TOPMed,gnomAD
rs537555038	p.Ser549Gly	missense variant	-	NC_000016.10:g.86770T>C	1000Genomes,gnomAD
rs537555038	p.Ser549Arg	missense variant	-	NC_000016.10:g.86770T>G	1000Genomes,gnomAD
rs188724206	p.Val550Leu	missense variant	-	NC_000016.10:g.86767C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs188724206	p.Val550Met	missense variant	-	NC_000016.10:g.86767C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs188724206	p.Val550Leu	missense variant	-	NC_000016.10:g.86767C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1258990698	p.Val552Leu	missense variant	-	NC_000016.10:g.86761C>G	gnomAD
rs370315887	p.His556Gln	missense variant	-	NC_000016.10:g.86747G>C	ESP,ExAC,TOPMed,gnomAD
rs764005661	p.Glu557Lys	missense variant	-	NC_000016.10:g.86746C>T	ExAC,TOPMed,gnomAD
rs752181668	p.Val560Phe	missense variant	-	NC_000016.10:g.86737C>A	ExAC,TOPMed,gnomAD
rs764756422	p.Val563Ile	missense variant	-	NC_000016.10:g.86728C>T	ExAC,TOPMed,gnomAD
rs1314801614	p.Gln565Pro	missense variant	-	NC_000016.10:g.86721T>G	gnomAD
rs759144182	p.Gln565Glu	missense variant	-	NC_000016.10:g.86722G>C	ExAC,gnomAD
rs776279336	p.Leu568Phe	missense variant	-	NC_000016.10:g.86713G>A	ExAC,TOPMed,gnomAD
rs756232589	p.ProTer569ProUnk	stop lost	-	NC_000016.10:g.86707_86708del	ESP,ExAC,TOPMed,gnomAD
rs1330077450	p.Pro569Ser	missense variant	-	NC_000016.10:g.86710G>A	gnomAD
RCV000653296	p.Ter570Ser	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.86707_86708del	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002312	alpha-Thalassemia	disease	BEFREE
C0002895	Anemia, Sickle Cell	disease	GWASCAT;GWASDB
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	GWASDB
C0014544	Epilepsy	disease	BEFREE
C0014547	Epilepsies, Partial	disease	BEFREE
C0014772	Red Blood Cell Count measurement	phenotype	GWASCAT
C0018935	Hematocrit procedure	phenotype	GWASDB
C0039730	Thalassemia	group	BEFREE
C0206161	Reticulocyte count (procedure)	phenotype	GWASCAT
C0272002	alpha^0^ Thalassemia	disease	BEFREE
C0369183	Erythrocyte Mean Corpuscular Hemoglobin Test	phenotype	GWASCAT;GWASDB
C0431380	Cortical Dysplasia	disease	BEFREE
C0474535	Mean corpuscular hemoglobin concentration determination	phenotype	GWASCAT
C0518015	Hemoglobin measurement	phenotype	GWASCAT;GWASDB
C0524587	Mean Corpuscular Volume (result)	phenotype	GWASCAT;GWASDB
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0585938	Hemoglobin A1 measurement	phenotype	GWASCAT
C1261502	Finding of Mean Corpuscular Hemoglobin	phenotype	GWASCAT;GWASDB
C1456873	alpha^+^ Thalassemia	disease	BEFREE
C1858477	Epilepsy, Partial, with Variable Foci	disease	CTD_human
C4310708	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3	disease	CLINVAR;UNIPROT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0005096	GTPase activator activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003281	ventricular septum development	IEA
GO:0032007	negative regulation of TOR signaling	IBA
GO:0032007	negative regulation of TOR signaling	IMP
GO:0034198	cellular response to amino acid starvation	IBA
GO:0034198	cellular response to amino acid starvation	IMP
GO:0035909	aorta morphogenesis	IEA
GO:0038202	TORC1 signaling	IBA
GO:0043547	positive regulation of GTPase activity	IEA
GO:0048738	cardiac muscle tissue development	IEA
GO:0060021	roof of mouth development	IEA
GO:2000785	regulation of autophagosome assembly	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005765	lysosomal membrane	IDA
GO:1990130	GATOR1 complex	IBA
GO:1990130	GATOR1 complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-2262752	Cellular responses to stress	TAS
R-HSA-8953897	Cellular responses to external stimuli	TAS
R-HSA-9639288	Amino acids regulate mTORC1	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NPRL3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NPRL3 mRNA	27188386
D000082	Acetaminophen	Acetaminophen affects the expression of NPRL3 mRNA	25064622
D000638	Amiodarone	Amiodarone affects the expression of NPRL3 mRNA	25064622
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in decreased expression of NPRL3 mRNA	26680231
D001151	Arsenic	Arsenic affects the methylation of NPRL3 gene	25304211
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of NPRL3 mRNA	22228805
C006780	bisphenol A	bisphenol A affects the expression of NPRL3 mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of NPRL3 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased methylation of NPRL3 gene	28505145
D002104	Cadmium	Cadmium results in increased expression of NPRL3 mRNA	24376830
D019256	Cadmium Chloride	Cadmium Chloride results in increased methylation of NPRL3 promoter	22457795
D002220	Carbamazepine	Carbamazepine affects the expression of NPRL3 mRNA	25979313
D002746	Chlorpromazine	Chlorpromazine affects the expression of NPRL3 mRNA	25064622
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of NPRL3 mRNA	19320972
D003042	Cocaine	Cocaine affects the expression of NPRL3 mRNA	20187946
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of NPRL3 mRNA	19549813
D016572	Cyclosporine	Cyclosporine affects the expression of NPRL3 mRNA	25064622
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of NPRL3 mRNA	21266533
C000944	dicrotophos	dicrotophos results in increased expression of NPRL3 mRNA	28302478
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NPRL3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NPRL3 mRNA	27188386
D004317	Doxorubicin	Doxorubicin affects the expression of NPRL3 mRNA	29803840
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of NPRL3 mRNA	25064622
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of NPRL3 mRNA	23129252
C492448	ICG 001	ICG 001 results in increased expression of NPRL3 mRNA	26191083
D007657	Ketone Bodies	Ketone Bodies results in decreased expression of NPRL3 mRNA	16807920
C042720	mercuric bromide	mercuric bromide results in decreased expression of NPRL3 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NPRL3 mRNA	27188386
D009532	Nickel	Nickel results in decreased expression of NPRL3 mRNA	25583101
D010269	Paraquat	Paraquat affects the expression of NPRL3 mRNA	25064622
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NPRL3 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of NPRL3 mRNA	26272509
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of NPRL3 mRNA	21061450
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of NPRL3 mRNA	25351596
D012999	Soman	Soman results in decreased expression of NPRL3 mRNA	19281266
D000077210	Sunitinib	Sunitinib results in increased expression of NPRL3 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of NPRL3 mRNA	21570461
D013752	Tetracycline	Tetracycline affects the expression of NPRL3 mRNA	25064622
D013849	Thimerosal	Thimerosal results in decreased expression of NPRL3 mRNA	27188386
D013853	Thioacetamide	Thioacetamide affects the expression of NPRL3 mRNA	25064622
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of NPRL3 mRNA	25447457; 28065790;
D014635	Valproic Acid	Valproic Acid affects the expression of NPRL3 mRNA	25064622
D014635	Valproic Acid	Valproic Acid affects the expression of NPRL3 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of NPRL3 mRNA	28001369
C025643	vinclozolin	vinclozolin results in decreased expression of NPRL3 mRNA	23034163
D024483	Vitamin K 3	Vitamin K 3 affects the expression of NPRL3 mRNA	20044591
D000077337	Vorinostat	Vorinostat results in decreased expression of NPRL3 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0225	Disease mutation
KW-0887	Epilepsy
KW-0343	GTPase activation
KW-0458	Lysosome
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR005365	Npr3

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03666	NPR3

Gene: NPRL3

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction