CleftGeneDB-Search

Gene: SLC6A4

Basic information

Tag	Content
Uniprot ID	P31645; Q5EE02;
Entrez ID	6532
Genbank protein ID	ABV02581.1; AAH69484.1; CAA50029.1; AAB93475.1; AAA35492.1; AAW80933.1;
Genbank nucleotide ID	NM_001045.5
Ensembl protein ID	ENSP00000261707; ENSP00000385822; ENSP00000498537;
Ensembl nucleotide ID	ENSG00000108576
Gene name	Sodium-dependent serotonin transporter
Gene symbol	SLC6A4
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	22072571
Functional description	Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner.
Sequence	METTPLNSQK QLSACEDGED CQENGVLQKV VPTPGDKVES GQISNGYSAV PSPGAGDDTR 60 HSIPATTTTL VAELHQGERE TWGKKVDFLL SVIGYAVDLG NVWRFPYICY QNGGGAFLLP 120 YTIMAIFGGI PLFYMELALG QYHRNGCISI WRKICPIFKG IGYAICIIAF YIASYYNTIM 180 AWALYYLISS FTDQLPWTSC KNSWNTGNCT NYFSEDNITW TLHSTSPAEE FYTRHVLQIH 240 RSKGLQDLGG ISWQLALCIM LIFTVIYFSI WKGVKTSGKV VWVTATFPYI ILSVLLVRGA 300 TLPGAWRGVL FYLKPNWQKL LETGVWIDAA AQIFFSLGPG FGVLLAFASY NKFNNNCYQD 360 ALVTSVVNCM TSFVSGFVIF TVLGYMAEMR NEDVSEVAKD AGPSLLFITY AEAIANMPAS 420 TFFAIIFFLM LITLGLDSTF AGLEGVITAV LDEFPHVWAK RRERFVLAVV ITCFFGSLVT 480 LTFGGAYVVK LLEEYATGPA VLTVALIEAV AVSWFYGITQ FCRDVKEMLG FSPGWFWRIC 540 WVAISPLFLL FIICSFLMSP PQLRLFQYNY PYWSIILGYC IGTSSFICIP TYIAYRLIIT 600 PGTFKERIIK SITPETPTEI PCGDIRLNAV

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
5I6X
5I6Z
5I71
5I73
5I74
5I75
6AWN
6AWO
6AWP
6AWQ
6DZV
6DZW
6DZY
6DZZ
6VRH
6VRK
6VRL
6W2B
6W2C
5I6X
5I6Z
5I71
5I73
5I74

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	SLC6A4	491184	F1PXA1	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SLC6A4	102172383	A0A452DQ43	Capra hircus	Prediction	More>>
1:1 ortholog	SLC6A4	100033848	F6QG30	Equus caballus	Prediction	More>>
1:1 ortholog	SLC6A4	6532	P31645	Homo sapiens	Publication	More>>
1:1 ortholog	Slc6a4	15567	Q60857	Mus musculus	Prediction	More>>
1:1 ortholog	SLC6A4	468201	A0A2J8LIN5	Pan troglodytes	Prediction	More>>
1:1 ortholog	SLC6A4		G1SK44	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Slc6a4	25553	P31652	Rattus norvegicus	Prediction	More>>
1:1 ortholog	slc6a4a	664719	Q1WGB5	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
SLC6A4	rs1042173	PCR-RFLP	22072571
SLC6A4	rs4583306	PCR-RFLP	22072571
SLC6A4	rs2020942	PCR-RFLP	22072571

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs75808495	p.Glu2Asp	missense variant	-	NC_000017.11:g.30221953C>A	ExAC,gnomAD
rs1338210090	p.Thr3Met	missense variant	-	NC_000017.11:g.30221951G>A	TOPMed,gnomAD
rs1338210090	p.Thr3Met	missense variant	-	NC_000017.11:g.30221951G>A	NCI-TCGA
rs765035150	p.Thr4Ala	missense variant	-	NC_000017.11:g.30221949T>C	ExAC,TOPMed,gnomAD
rs201688297	p.Thr4Met	missense variant	-	NC_000017.11:g.30221948G>A	ExAC,TOPMed,gnomAD
rs1406941594	p.Leu6Ser	missense variant	-	NC_000017.11:g.30221942A>G	gnomAD
COSM977275	p.Ser8Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30221936G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln9Glu	missense variant	-	NC_000017.11:g.30221934G>C	NCI-TCGA
rs762401531	p.Lys10Arg	missense variant	-	NC_000017.11:g.30221930T>C	ExAC,gnomAD
rs922740757	p.Gln11Lys	missense variant	-	NC_000017.11:g.30221928G>T	TOPMed
rs774252706	p.Ser13Leu	missense variant	-	NC_000017.11:g.30221921G>A	ExAC,TOPMed,gnomAD
rs774252706	p.Ser13Leu	missense variant	-	NC_000017.11:g.30221921G>A	NCI-TCGA
rs763069645	p.Ala14Glu	missense variant	-	NC_000017.11:g.30221918G>T	ExAC,TOPMed,gnomAD
rs763069645	p.Ala14Val	missense variant	-	NC_000017.11:g.30221918G>A	ExAC,TOPMed,gnomAD
RCV000400361	p.Ala14Val	missense variant	Behavior disorder	NC_000017.11:g.30221918G>A	ClinVar
rs1452608078	p.Cys21Tyr	missense variant	-	NC_000017.11:g.30221897C>T	gnomAD
rs1457763470	p.Gln22Pro	missense variant	-	NC_000017.11:g.30221894T>G	TOPMed
NCI-TCGA novel	p.Glu23Lys	missense variant	-	NC_000017.11:g.30221892C>T	NCI-TCGA
rs199727635	p.Gly25Arg	missense variant	-	NC_000017.11:g.30221886C>T	ExAC,TOPMed,gnomAD
rs199727635	p.Gly25Arg	missense variant	-	NC_000017.11:g.30221886C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly25Val	missense variant	-	NC_000017.11:g.30221885C>A	NCI-TCGA
rs375503605	p.Val26Ala	missense variant	-	NC_000017.11:g.30221882A>G	ESP,ExAC,TOPMed,gnomAD
rs1364333745	p.Lys29Met	missense variant	-	NC_000017.11:g.30221873T>A	gnomAD
rs747721432	p.Val31Phe	missense variant	-	NC_000017.11:g.30221868C>A	ExAC,TOPMed,gnomAD
rs778707175	p.Pro32Ala	missense variant	-	NC_000017.11:g.30221865G>C	ExAC,TOPMed,gnomAD
rs778707175	p.Pro32Ser	missense variant	-	NC_000017.11:g.30221865G>A	ExAC,TOPMed,gnomAD
COSM3515714	p.Thr33Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30221861G>A	NCI-TCGA Cosmic
rs1331477421	p.Pro34Ala	missense variant	-	NC_000017.11:g.30221859G>C	gnomAD
rs754684306	p.Gly35Arg	missense variant	-	NC_000017.11:g.30221856C>G	ExAC,gnomAD
rs372056901	p.Gly35Glu	missense variant	-	NC_000017.11:g.30221855C>T	ESP,ExAC,gnomAD
rs1372689679	p.Lys37Ile	missense variant	-	NC_000017.11:g.30221849T>A	gnomAD
rs1169264519	p.Val38Met	missense variant	-	NC_000017.11:g.30221847C>T	gnomAD
rs757599379	p.Glu39Gln	missense variant	-	NC_000017.11:g.30221844C>G	ExAC,gnomAD
rs752079357	p.Glu39Gly	missense variant	-	NC_000017.11:g.30221843T>C	ExAC,gnomAD
rs140436169	p.Gly41Arg	missense variant	-	NC_000017.11:g.30221838C>G	ESP,ExAC,TOPMed,gnomAD
rs140436169	p.Gly41Arg	missense variant	-	NC_000017.11:g.30221838C>T	ESP,ExAC,TOPMed,gnomAD
COSM705721	p.Ser44Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30221829A>G	NCI-TCGA Cosmic
rs200263321	p.Asn45Ser	missense variant	-	NC_000017.11:g.30221825T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200339864	p.Ser48Leu	missense variant	-	NC_000017.11:g.30221816G>A	ExAC,gnomAD
rs202152288	p.Val50Leu	missense variant	-	NC_000017.11:g.30221811C>G	TOPMed,gnomAD
rs746829911	p.Ala55Val	missense variant	-	NC_000017.11:g.30221795G>A	ExAC,TOPMed,gnomAD
rs770728789	p.Ala55Thr	missense variant	-	NC_000017.11:g.30221796C>T	ExAC,TOPMed,gnomAD
rs770728789	p.Ala55Thr	missense variant	-	NC_000017.11:g.30221796C>T	NCI-TCGA,NCI-TCGA Cosmic
rs746829911	p.Ala55Val	missense variant	-	NC_000017.11:g.30221795G>A	NCI-TCGA
rs6355	p.Gly56Ala	missense variant	-	NC_000017.11:g.30221792C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747597376	p.Asp57His	missense variant	-	NC_000017.11:g.30221790C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp58Asn	missense variant	-	NC_000017.11:g.30221787C>T	NCI-TCGA
rs754635080	p.Arg60Trp	missense variant	-	NC_000017.11:g.30221781G>A	ExAC,TOPMed,gnomAD
rs748936504	p.Arg60Gln	missense variant	-	NC_000017.11:g.30221780C>T	ExAC,TOPMed,gnomAD
rs201041934	p.Ser62Cys	missense variant	-	NC_000017.11:g.30221774G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser62Phe	missense variant	-	NC_000017.11:g.30221774G>A	NCI-TCGA
rs1362266683	p.Ile63Val	missense variant	-	NC_000017.11:g.30221772T>C	gnomAD
rs140484986	p.Ala65Glu	missense variant	-	NC_000017.11:g.30221765G>T	ESP,ExAC,TOPMed,gnomAD
rs140484986	p.Ala65Val	missense variant	-	NC_000017.11:g.30221765G>A	ESP,ExAC,TOPMed,gnomAD
rs1171155787	p.Thr66Ser	missense variant	-	NC_000017.11:g.30221763T>A	TOPMed,gnomAD
rs758918159	p.Thr67Ile	missense variant	-	NC_000017.11:g.30221759G>A	ExAC,gnomAD
rs1230700471	p.Thr69Ala	missense variant	-	NC_000017.11:g.30221754T>C	gnomAD
COSM3819203	p.Leu74Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30221738A>C	NCI-TCGA Cosmic
rs1277908759	p.Gln76His	missense variant	-	NC_000017.11:g.30221731T>A	gnomAD
rs1243133079	p.Gln76Glu	missense variant	-	NC_000017.11:g.30221733G>C	TOPMed
rs1243133079	p.Gln76Glu	missense variant	-	NC_000017.11:g.30221733G>C	NCI-TCGA
rs1221448303	p.Arg79Trp	missense variant	-	NC_000017.11:g.30221724G>A	TOPMed,gnomAD
rs760517433	p.Arg79Gln	missense variant	-	NC_000017.11:g.30221723C>T	ExAC,TOPMed,gnomAD
rs760517433	p.Arg79Leu	missense variant	-	NC_000017.11:g.30221723C>A	ExAC,TOPMed,gnomAD
rs760517433	p.Arg79Pro	missense variant	-	NC_000017.11:g.30221723C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu80Asp	missense variant	-	NC_000017.11:g.30221719C>A	NCI-TCGA
rs1289152192	p.Thr81Ala	missense variant	-	NC_000017.11:g.30221718T>C	gnomAD
COSM3889480	p.Trp82Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.30221714C>T	NCI-TCGA Cosmic
rs772080063	p.Trp82Arg	missense variant	-	NC_000017.11:g.30221715A>G	ExAC,gnomAD
rs1304639036	p.Gly83Ser	missense variant	-	NC_000017.11:g.30221712C>T	gnomAD
rs774467106	p.Lys84Arg	missense variant	-	NC_000017.11:g.30221708T>C	ExAC,gnomAD
rs774467106	p.Lys84Arg	missense variant	-	NC_000017.11:g.30221708T>C	NCI-TCGA,NCI-TCGA Cosmic
rs748124693	p.Lys84Glu	missense variant	-	NC_000017.11:g.30221709T>C	ExAC,TOPMed,gnomAD
rs1459089712	p.Lys85Asn	missense variant	-	NC_000017.11:g.30221704C>G	gnomAD
rs1332783171	p.Lys85Met	missense variant	-	NC_000017.11:g.30221705T>A	gnomAD
rs1159379145	p.Asp87Tyr	missense variant	-	NC_000017.11:g.30221700C>A	gnomAD
rs1183088111	p.Leu90Phe	missense variant	-	NC_000017.11:g.30221691G>A	gnomAD
NCI-TCGA novel	p.Ser91Leu	missense variant	-	NC_000017.11:g.30221687G>A	NCI-TCGA
COSM1128772	p.Ile93Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30221682T>G	NCI-TCGA Cosmic
rs1483323164	p.Tyr95His	missense variant	-	NC_000017.11:g.30221676A>G	gnomAD
NCI-TCGA novel	p.Gly100Val	missense variant	-	NC_000017.11:g.30221660C>A	NCI-TCGA
rs769335893	p.Val102Ile	missense variant	-	NC_000017.11:g.30221655C>T	ExAC,TOPMed,gnomAD
rs200953188	p.Arg104Cys	missense variant	-	NC_000017.11:g.30221649G>A	TOPMed
rs1207932786	p.Pro106Leu	missense variant	-	NC_000017.11:g.30221642G>A	gnomAD
rs56316081	p.Ile108Val	missense variant	-	NC_000017.11:g.30221637T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile108Lys	missense variant	-	NC_000017.11:g.30221636A>T	NCI-TCGA
rs778131401	p.Gln111His	missense variant	-	NC_000017.11:g.30221626C>A	ExAC,gnomAD
rs758865066	p.Asn112Ser	missense variant	-	NC_000017.11:g.30221624T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly115Val	missense variant	-	NC_000017.11:g.30218931C>A	NCI-TCGA
NCI-TCGA novel	p.Ala116HisPheSerTerUnkUnkUnk	frameshift	-	NC_000017.11:g.30218929C>-	NCI-TCGA
COSM436293	p.Leu118Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218923G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu118Ile	missense variant	-	NC_000017.11:g.30218923G>T	NCI-TCGA
rs1199374764	p.Thr122Ile	missense variant	-	NC_000017.11:g.30218910G>A	TOPMed
rs542708308	p.Ile123Thr	missense variant	-	NC_000017.11:g.30218907A>G	1000Genomes,ExAC,gnomAD
rs779391253	p.Met124Thr	missense variant	-	NC_000017.11:g.30218904A>G	ExAC,gnomAD
rs1435297805	p.Ile126Ser	missense variant	-	NC_000017.11:g.30218898A>C	TOPMed
rs755449138	p.Ile126Val	missense variant	-	NC_000017.11:g.30218899T>C	ExAC,TOPMed,gnomAD
rs780022333	p.Phe127Ser	missense variant	-	NC_000017.11:g.30218895A>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe127Leu	missense variant	-	NC_000017.11:g.30218894A>C	NCI-TCGA
NCI-TCGA novel	p.Gly129Glu	missense variant	-	NC_000017.11:g.30218889C>T	NCI-TCGA
rs756254987	p.Ile130Val	missense variant	-	NC_000017.11:g.30218887T>C	ExAC,gnomAD
rs756254987	p.Ile130Phe	missense variant	-	NC_000017.11:g.30218887T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile130Ser	missense variant	-	NC_000017.11:g.30218886A>C	NCI-TCGA
rs575214286	p.Tyr134Phe	missense variant	-	NC_000017.11:g.30218874T>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Tyr134Asp	missense variant	-	NC_000017.11:g.30218875A>C	NCI-TCGA
rs1274463771	p.Met135Leu	missense variant	-	NC_000017.11:g.30218872T>A	gnomAD
rs764034794	p.Met135Thr	missense variant	-	NC_000017.11:g.30218871A>G	ExAC,TOPMed,gnomAD
rs1274463771	p.Met135Val	missense variant	-	NC_000017.11:g.30218872T>C	gnomAD
rs201802369	p.Ala138Thr	missense variant	-	NC_000017.11:g.30218863C>T	ExAC,TOPMed,gnomAD
COSM3969938	p.Gly140Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218857C>T	NCI-TCGA Cosmic
rs769156350	p.His143Tyr	missense variant	-	NC_000017.11:g.30218848G>A	ExAC,TOPMed
NCI-TCGA novel	p.His143Arg	missense variant	-	NC_000017.11:g.30218847T>C	NCI-TCGA
rs759098089	p.Arg144Ter	stop gained	-	NC_000017.11:g.30218845G>A	ExAC,TOPMed,gnomAD
rs147306146	p.Arg144Gln	missense variant	-	NC_000017.11:g.30218844C>T	NCI-TCGA,NCI-TCGA Cosmic
rs147306146	p.Arg144Gln	missense variant	-	NC_000017.11:g.30218844C>T	ESP,ExAC,TOPMed,gnomAD
rs770637680	p.Asn145Ser	missense variant	-	NC_000017.11:g.30218841T>C	ExAC,gnomAD
COSM977274	p.Gly146Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.30218839C>A	NCI-TCGA Cosmic
COSM3515712	p.Gly146Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218839C>T	NCI-TCGA Cosmic
rs1294341765	p.Cys147Tyr	missense variant	-	NC_000017.11:g.30218835C>T	TOPMed
rs1167206964	p.Ile148Val	missense variant	-	NC_000017.11:g.30218833T>C	gnomAD
rs774597104	p.Trp151Arg	missense variant	-	NC_000017.11:g.30218824A>T	ExAC,gnomAD
rs769159876	p.Arg152Gly	missense variant	-	NC_000017.11:g.30218821T>C	ExAC,gnomAD
rs1176511049	p.Lys153Ter	stop gained	-	NC_000017.11:g.30218818T>A	TOPMed,gnomAD
rs1176511049	p.Lys153Gln	missense variant	-	NC_000017.11:g.30218818T>G	TOPMed,gnomAD
rs749793113	p.Cys155Ser	missense variant	-	NC_000017.11:g.30218812A>T	ExAC,gnomAD
rs201940331	p.Pro156Leu	missense variant	-	NC_000017.11:g.30218808G>A	TOPMed
rs145643221	p.Ile157Val	missense variant	-	NC_000017.11:g.30218806T>C	ESP,ExAC,TOPMed,gnomAD
rs1264232560	p.Lys159Glu	missense variant	-	NC_000017.11:g.30218800T>C	TOPMed
rs201833332	p.Ile161Thr	missense variant	-	NC_000017.11:g.30218334A>G	ExAC,gnomAD
rs757512580	p.Ala164Gly	missense variant	-	NC_000017.11:g.30218325G>C	ExAC,gnomAD
rs747167318	p.Ile165Val	missense variant	-	NC_000017.11:g.30218323T>C	ExAC,TOPMed,gnomAD
rs778107856	p.Ile165Thr	missense variant	-	NC_000017.11:g.30218322A>G	ExAC,TOPMed,gnomAD
rs1451855468	p.Cys166Ser	missense variant	-	NC_000017.11:g.30218319C>G	gnomAD
rs562232343	p.Ile168Thr	missense variant	-	NC_000017.11:g.30218313A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1448474106	p.Ile172Phe	missense variant	-	NC_000017.11:g.30218302T>A	TOPMed
COSM3515711	p.Ser174Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218295G>A	NCI-TCGA Cosmic
rs1157064124	p.Tyr176Cys	missense variant	-	NC_000017.11:g.30218289T>C	gnomAD
rs752604553	p.Tyr176His	missense variant	-	NC_000017.11:g.30218290A>G	ExAC,gnomAD
rs1459451195	p.Asn177Thr	missense variant	-	NC_000017.11:g.30218286T>G	gnomAD
rs765019430	p.Thr178Ile	missense variant	-	NC_000017.11:g.30218283G>A	ExAC,gnomAD
rs140206260	p.Ile179Val	missense variant	-	NC_000017.11:g.30218281T>C	ESP
rs754925524	p.Trp182Leu	missense variant	-	NC_000017.11:g.30218271C>A	ExAC,TOPMed
rs201387005	p.Ala183Gly	missense variant	-	NC_000017.11:g.30218268G>C	TOPMed,gnomAD
rs201387005	p.Ala183Val	missense variant	-	NC_000017.11:g.30218268G>A	TOPMed,gnomAD
rs1283036110	p.Tyr185His	missense variant	-	NC_000017.11:g.30218263A>G	gnomAD
rs753300083	p.Tyr185Cys	missense variant	-	NC_000017.11:g.30218262T>C	NCI-TCGA
rs753300083	p.Tyr185Cys	missense variant	-	NC_000017.11:g.30218262T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile188Met	missense variant	-	NC_000017.11:g.30218252G>C	NCI-TCGA
rs765907376	p.Ser189Phe	missense variant	-	NC_000017.11:g.30218250G>A	ExAC,gnomAD
rs760222214	p.Ser190Tyr	missense variant	-	NC_000017.11:g.30218247G>T	ExAC,gnomAD
rs1390660090	p.Thr192Ala	missense variant	-	NC_000017.11:g.30218242T>C	TOPMed
rs144427337	p.Thr192Met	missense variant	-	NC_000017.11:g.30218241G>A	ESP,ExAC,TOPMed,gnomAD
rs55848249	p.Asp193Asn	missense variant	-	NC_000017.11:g.30218239C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763156986	p.Gln194Arg	missense variant	-	NC_000017.11:g.30218235T>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp197Cys	missense variant	-	NC_000017.11:g.30218225C>A	NCI-TCGA
rs2228673	p.Lys201Asn	missense variant	-	NC_000017.11:g.30218213C>G	-
rs2228673	p.Lys201Asn	missense variant	-	NC_000017.11:g.30218213C>G	UniProt,dbSNP
VAR_029158	p.Lys201Asn	missense variant	-	NC_000017.11:g.30218213C>G	UniProt
rs775933915	p.Gly207Asp	missense variant	-	NC_000017.11:g.30218196C>T	ExAC,gnomAD
rs1325649419	p.Gly207Ser	missense variant	-	NC_000017.11:g.30218197C>T	gnomAD
rs201518786	p.Asn208Ser	missense variant	-	NC_000017.11:g.30218193T>C	ExAC,TOPMed,gnomAD
rs966629698	p.Asn208Asp	missense variant	-	NC_000017.11:g.30218194T>C	TOPMed
rs1391771916	p.Thr210Ser	missense variant	-	NC_000017.11:g.30218187G>C	TOPMed,gnomAD
rs1391771916	p.Thr210Asn	missense variant	-	NC_000017.11:g.30218187G>T	TOPMed,gnomAD
rs184149069	p.Asn211Ser	missense variant	-	NC_000017.11:g.30218184T>C	1000Genomes
COSM3402715	p.Asn211Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218184T>G	NCI-TCGA Cosmic
rs199504488	p.Glu215Ter	stop gained	-	NC_000017.11:g.30218173C>A	ExAC,TOPMed,gnomAD
rs199504488	p.Glu215Lys	missense variant	-	NC_000017.11:g.30218173C>T	ExAC,TOPMed,gnomAD
rs747173078	p.Asp216Glu	missense variant	-	NC_000017.11:g.30218168G>T	ExAC,gnomAD
rs201506679	p.Asn217Ile	missense variant	-	NC_000017.11:g.30218166T>A	ESP,ExAC,TOPMed,gnomAD
rs201506679	p.Asn217Ser	missense variant	-	NC_000017.11:g.30218166T>C	ESP,ExAC,TOPMed,gnomAD
rs1240739803	p.Ile218Thr	missense variant	-	NC_000017.11:g.30218163A>G	gnomAD
rs1201529504	p.Thr221Ile	missense variant	-	NC_000017.11:g.30218154G>A	gnomAD
rs772343502	p.Leu222Phe	missense variant	-	NC_000017.11:g.30218152G>A	ExAC,gnomAD
rs191881524	p.Leu222Pro	missense variant	-	NC_000017.11:g.30218151A>G	1000Genomes,ExAC,gnomAD
rs200486204	p.Thr225Met	missense variant	-	NC_000017.11:g.30218142G>A	ExAC,TOPMed,gnomAD
rs200486204	p.Thr225Lys	missense variant	-	NC_000017.11:g.30218142G>T	ExAC,TOPMed,gnomAD
COSM3515710	p.Ser226Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218139G>A	NCI-TCGA Cosmic
rs1229098377	p.Pro227Ser	missense variant	-	NC_000017.11:g.30218137G>A	gnomAD
rs1249507811	p.Ala228Asp	missense variant	-	NC_000017.11:g.30218133G>T	TOPMed
NCI-TCGA novel	p.Ala228Val	missense variant	-	NC_000017.11:g.30218133G>A	NCI-TCGA
COSM4065252	p.Glu230Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.30218128C>A	NCI-TCGA Cosmic
rs755613830	p.Thr233Met	missense variant	-	NC_000017.11:g.30218118G>A	ExAC,TOPMed,gnomAD
rs763898530	p.Arg234Leu	missense variant	-	NC_000017.11:g.30217302C>A	ExAC,TOPMed,gnomAD
rs751233939	p.Arg234Cys	missense variant	-	NC_000017.11:g.30217303G>A	ExAC,TOPMed,gnomAD
rs763898530	p.Arg234His	missense variant	-	NC_000017.11:g.30217302C>T	ExAC,TOPMed,gnomAD
rs751233939	p.Arg234Cys	missense variant	-	NC_000017.11:g.30217303G>A	NCI-TCGA,NCI-TCGA Cosmic
rs200548683	p.His235Leu	missense variant	-	NC_000017.11:g.30217299T>A	TOPMed,gnomAD
rs755390416	p.His235Tyr	missense variant	-	NC_000017.11:g.30217300G>A	ExAC,gnomAD
rs117750329	p.Val236Ile	missense variant	-	NC_000017.11:g.30217297C>T	1000Genomes,ExAC,gnomAD
rs1235060240	p.Gln238Arg	missense variant	-	NC_000017.11:g.30217290T>C	gnomAD
rs142505940	p.Arg241Gln	missense variant	-	NC_000017.11:g.30217281C>T	ESP,ExAC,TOPMed,gnomAD
rs142505940	p.Arg241Leu	missense variant	-	NC_000017.11:g.30217281C>A	ESP,ExAC,TOPMed,gnomAD
COSM705722	p.Gly244Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30217273C>A	NCI-TCGA Cosmic
rs1201575822	p.Leu245Phe	missense variant	-	NC_000017.11:g.30217270G>A	gnomAD
rs774549180	p.Gly250Asp	missense variant	-	NC_000017.11:g.30217254C>T	ExAC,TOPMed,gnomAD
rs774549180	p.Gly250Val	missense variant	-	NC_000017.11:g.30217254C>A	ExAC,TOPMed,gnomAD
rs761852274	p.Gly250Ser	missense variant	-	NC_000017.11:g.30217255C>T	ExAC,gnomAD
rs774549180	p.Gly250Asp	missense variant	-	NC_000017.11:g.30217254C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly250AlaPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.30217254C>-	NCI-TCGA
NCI-TCGA novel	p.Trp253Ter	stop gained	-	NC_000017.11:g.30217244C>T	NCI-TCGA
rs768866921	p.Gln254Pro	missense variant	-	NC_000017.11:g.30217242T>G	ExAC,gnomAD
rs1439280324	p.Gln254His	missense variant	-	NC_000017.11:g.30217241C>G	TOPMed
rs987757017	p.Leu257Phe	missense variant	-	NC_000017.11:g.30217234G>A	gnomAD
rs987757017	p.Leu257Ile	missense variant	-	NC_000017.11:g.30217234G>T	gnomAD
rs1245951483	p.Cys258Arg	missense variant	-	NC_000017.11:g.30217231A>G	TOPMed
rs1459205643	p.Met260Val	missense variant	-	NC_000017.11:g.30217225T>C	gnomAD
rs769577662	p.Thr264Ser	missense variant	-	NC_000017.11:g.30217212G>C	ExAC,gnomAD
rs745784773	p.Val265Ile	missense variant	-	NC_000017.11:g.30217210C>T	ExAC,gnomAD
rs142071015	p.Ile266Val	missense variant	-	NC_000017.11:g.30217207T>C	1000Genomes,TOPMed,gnomAD
rs199913287	p.Ile266Thr	missense variant	-	NC_000017.11:g.30217206A>G	gnomAD
rs1445134432	p.Ile270Val	missense variant	-	NC_000017.11:g.30217195T>C	gnomAD
rs74330808	p.Ile270Thr	missense variant	-	NC_000017.11:g.30217194A>G	ExAC,gnomAD
rs746585288	p.Val274Ile	missense variant	-	NC_000017.11:g.30217183C>T	ExAC,TOPMed,gnomAD
rs746585288	p.Val274Ile	missense variant	-	NC_000017.11:g.30217183C>T	NCI-TCGA
NCI-TCGA novel	p.Lys275Asn	missense variant	-	NC_000017.11:g.30217178C>A	NCI-TCGA
rs1261466208	p.Thr276Ala	missense variant	-	NC_000017.11:g.30217177T>C	gnomAD
NCI-TCGA novel	p.Ser277Tyr	missense variant	-	NC_000017.11:g.30217173G>T	NCI-TCGA
rs773747465	p.Lys279Arg	missense variant	-	NC_000017.11:g.30217167T>C	ExAC,gnomAD
NCI-TCGA novel	p.Val280Ala	missense variant	-	NC_000017.11:g.30216215A>G	NCI-TCGA
NCI-TCGA novel	p.Val280Met	missense variant	-	NC_000017.11:g.30216216C>T	NCI-TCGA
rs200435184	p.Trp282Ser	missense variant	-	NC_000017.11:g.30216209C>G	TOPMed
NCI-TCGA novel	p.Trp282Leu	missense variant	-	NC_000017.11:g.30216209C>A	NCI-TCGA
rs138004662	p.Val283Leu	missense variant	-	NC_000017.11:g.30216207C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000344225	p.Val283Leu	missense variant	Behavior disorder	NC_000017.11:g.30216207C>A	ClinVar
COSM705724	p.Ala285Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30216201C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala285Asp	missense variant	-	NC_000017.11:g.30216200G>T	NCI-TCGA
rs776627175	p.Ile290Val	missense variant	-	NC_000017.11:g.30216186T>C	ExAC,TOPMed,gnomAD
rs1359413899	p.Ile291Val	missense variant	-	NC_000017.11:g.30216183T>C	gnomAD
rs770779030	p.Leu292Ile	missense variant	-	NC_000017.11:g.30216180G>T	ExAC,gnomAD
rs199909202	p.Ser293Phe	missense variant	-	NC_000017.11:g.30216176G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser293Tyr	missense variant	-	NC_000017.11:g.30216176G>T	NCI-TCGA
NCI-TCGA novel	p.Ser293Cys	missense variant	-	NC_000017.11:g.30216176G>C	NCI-TCGA
rs200924626	p.Pro303His	missense variant	-	NC_000017.11:g.30216146G>T	1000Genomes,ExAC,gnomAD
rs200924626	p.Pro303Arg	missense variant	-	NC_000017.11:g.30216146G>C	1000Genomes,ExAC,gnomAD
COSM3515705	p.Pro303Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30216146G>A	NCI-TCGA Cosmic
rs1020956488	p.Phe311Leu	missense variant	-	NC_000017.11:g.30216121G>C	TOPMed,gnomAD
COSM977273	p.Leu313Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30216116A>G	NCI-TCGA Cosmic
rs1427445327	p.Pro315Leu	missense variant	-	NC_000017.11:g.30216110G>A	TOPMed,gnomAD
rs200977199	p.Asn316Ser	missense variant	-	NC_000017.11:g.30216107T>C	ESP,ExAC,TOPMed,gnomAD
rs1207431394	p.Trp317Cys	missense variant	-	NC_000017.11:g.30216103C>A	gnomAD
rs1306137038	p.Val325Met	missense variant	-	NC_000017.11:g.30215714C>T	gnomAD
rs1225691529	p.Ile327Thr	missense variant	-	NC_000017.11:g.30215707A>G	TOPMed
rs1023963762	p.Ala330Gly	missense variant	-	NC_000017.11:g.30215698G>C	TOPMed
rs201425535	p.Ala331Ser	missense variant	-	NC_000017.11:g.30215696C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201425535	p.Ala331Thr	missense variant	-	NC_000017.11:g.30215696C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1469154080	p.Gln332Pro	missense variant	-	NC_000017.11:g.30215692T>G	gnomAD
NCI-TCGA novel	p.Gln332His	missense variant	-	NC_000017.11:g.30215691C>A	NCI-TCGA
NCI-TCGA novel	p.Phe341Val	missense variant	-	NC_000017.11:g.30215666A>C	NCI-TCGA
rs199876253	p.Gly342Glu	missense variant	-	NC_000017.11:g.30215662C>T	gnomAD
COSM4065251	p.Leu344Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30215656A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser349GlnPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.30215642_30215643insG	NCI-TCGA
rs201688096	p.Asn351Ser	missense variant	-	NC_000017.11:g.30215635T>C	ExAC,gnomAD
rs1260947474	p.Phe353Leu	missense variant	-	NC_000017.11:g.30215630A>G	TOPMed
rs1426735582	p.Asn354Ser	missense variant	-	NC_000017.11:g.30215626T>C	TOPMed
rs766248228	p.Asn355Ser	missense variant	-	NC_000017.11:g.30215623T>C	ExAC,gnomAD
rs775339451	p.Asn356Ser	missense variant	-	NC_000017.11:g.30215620T>C	TOPMed,gnomAD
rs1313057058	p.Asn356Asp	missense variant	-	NC_000017.11:g.30215621T>C	TOPMed,gnomAD
rs1316520384	p.Ala361Val	missense variant	-	NC_000017.11:g.30212862G>A	gnomAD
NCI-TCGA novel	p.Ala361PheValLysIleTer	stop gained	-	NC_000017.11:g.30212860_30212861insTTAGATCTTTACAAA	NCI-TCGA
rs755973197	p.Leu362Met	missense variant	-	NC_000017.11:g.30212860G>T	ExAC,TOPMed,gnomAD
rs371274847	p.Val363Ala	missense variant	-	NC_000017.11:g.30212856A>G	ESP,TOPMed,gnomAD
rs767509248	p.Val363Leu	missense variant	-	NC_000017.11:g.30212857C>G	ExAC,gnomAD
rs140377388	p.Ser365Arg	missense variant	-	NC_000017.11:g.30212849G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1422350691	p.Ser365Asn	missense variant	-	NC_000017.11:g.30212850C>T	gnomAD
rs774382857	p.Val366Met	missense variant	-	NC_000017.11:g.30212848C>T	ExAC,TOPMed,gnomAD
rs1372075335	p.Val367Met	missense variant	-	NC_000017.11:g.30212845C>T	gnomAD
rs763486810	p.Cys369Tyr	missense variant	-	NC_000017.11:g.30212838C>T	ExAC,gnomAD
rs1240463629	p.Met370Thr	missense variant	-	NC_000017.11:g.30212835A>G	TOPMed
rs1268954204	p.Thr371Met	missense variant	-	NC_000017.11:g.30212832G>A	gnomAD
rs1481104171	p.Thr371Ser	missense variant	-	NC_000017.11:g.30212833T>A	gnomAD
NCI-TCGA novel	p.Thr371Arg	missense variant	-	NC_000017.11:g.30212832G>C	NCI-TCGA
NCI-TCGA novel	p.Ser372Gly	missense variant	-	NC_000017.11:g.30212830T>C	NCI-TCGA
rs769439481	p.Val374Ile	missense variant	-	NC_000017.11:g.30212824C>T	ExAC,TOPMed,gnomAD
rs1196104137	p.Ser375Leu	missense variant	-	NC_000017.11:g.30212820G>A	TOPMed,gnomAD
rs1268585061	p.Val378Ala	missense variant	-	NC_000017.11:g.30212811A>G	gnomAD
COSM977272	p.Ile379Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30212809T>C	NCI-TCGA Cosmic
rs1225554343	p.Phe380Cys	missense variant	-	NC_000017.11:g.30212805A>C	gnomAD
COSM977271	p.Gly384Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30212794C>T	NCI-TCGA Cosmic
COSM3819202	p.Ala387Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30212785C>T	NCI-TCGA Cosmic
rs199886280	p.Met389Ile	missense variant	-	NC_000017.11:g.30212777C>T	ExAC,TOPMed,gnomAD
rs200983126	p.Met389Leu	missense variant	-	NC_000017.11:g.30212779T>A	gnomAD
rs200983126	p.Met389Val	missense variant	-	NC_000017.11:g.30212779T>C	gnomAD
rs779526325	p.Asp400Asn	missense variant	-	NC_000017.11:g.30212746C>T	ExAC,gnomAD
rs148279474	p.Asp400Glu	missense variant	-	NC_000017.11:g.30212744G>C	ESP,ExAC,TOPMed,gnomAD
rs374583307	p.Ala401Ser	missense variant	-	NC_000017.11:g.30212743C>A	ESP,ExAC,TOPMed,gnomAD
rs374583307	p.Ala401Thr	missense variant	-	NC_000017.11:g.30212743C>T	ESP,ExAC,TOPMed,gnomAD
rs954957737	p.Pro403Leu	missense variant	-	NC_000017.11:g.30211421G>A	TOPMed,gnomAD
rs954957737	p.Pro403Arg	missense variant	-	NC_000017.11:g.30211421G>C	TOPMed,gnomAD
rs1317796205	p.Ile408Thr	missense variant	-	NC_000017.11:g.30211406A>G	gnomAD
rs1453755229	p.Thr409Met	missense variant	-	NC_000017.11:g.30211403G>A	gnomAD
rs781619709	p.Ala413Val	missense variant	-	NC_000017.11:g.30211391G>A	ExAC,TOPMed,gnomAD
rs759854385	p.Ala413Thr	missense variant	-	NC_000017.11:g.30211392C>T	-
rs1346661301	p.Ile414Val	missense variant	-	NC_000017.11:g.30211389T>C	gnomAD
rs143632225	p.Ala419Val	missense variant	-	NC_000017.11:g.30211373G>A	ESP,TOPMed,gnomAD
rs143632225	p.Ala419Gly	missense variant	-	NC_000017.11:g.30211373G>C	ESP,TOPMed,gnomAD
rs777513509	p.Thr421Ala	missense variant	-	NC_000017.11:g.30211368T>C	ExAC,gnomAD
rs199873504	p.Thr421Ile	missense variant	-	NC_000017.11:g.30211367G>A	ExAC,gnomAD
rs199873504	p.Thr421Ile	missense variant	-	NC_000017.11:g.30211367G>A	NCI-TCGA
rs752163355	p.Phe422Ser	missense variant	-	NC_000017.11:g.30211364A>G	ExAC
NCI-TCGA novel	p.Phe422Leu	missense variant	-	NC_000017.11:g.30211363G>T	NCI-TCGA
NCI-TCGA novel	p.Ala424Val	missense variant	-	NC_000017.11:g.30211358G>A	NCI-TCGA
rs28914832	p.Ile425Val	missense variant	-	NC_000017.11:g.30211356T>C	UniProt,dbSNP
VAR_026751	p.Ile425Val	missense variant	-	NC_000017.11:g.30211356T>C	UniProt
rs28914832	p.Ile425Val	missense variant	-	NC_000017.11:g.30211356T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28914832	p.Ile425Leu	missense variant	-	NC_000017.11:g.30211356T>G	UniProt,dbSNP
VAR_036788	p.Ile425Leu	missense variant	-	NC_000017.11:g.30211356T>G	UniProt
rs28914832	p.Ile425Leu	missense variant	-	NC_000017.11:g.30211356T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28914832	p.Ile425Val	missense variant	-	NC_000017.11:g.30211356T>C	NCI-TCGA
RCV000013798	p.Ile425Val	missense variant	Obsessive-compulsive disorder, susceptibility to	NC_000017.11:g.30211356T>C	ClinVar
rs1409472269	p.Phe427Ser	missense variant	-	NC_000017.11:g.30211349A>G	TOPMed
rs1368601938	p.Phe428Leu	missense variant	-	NC_000017.11:g.30211347A>G	gnomAD
rs1286741075	p.Leu429Pro	missense variant	-	NC_000017.11:g.30211343A>G	TOPMed
rs145732192	p.Thr433Met	missense variant	-	NC_000017.11:g.30211331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145732192	p.Thr433Met	missense variant	-	NC_000017.11:g.30211331G>A	NCI-TCGA
rs1215090146	p.Leu434Gln	missense variant	-	NC_000017.11:g.30211328A>T	gnomAD
rs762020242	p.Leu436Ser	missense variant	-	NC_000017.11:g.30211322A>G	ExAC,gnomAD
rs774795329	p.Thr439Met	missense variant	-	NC_000017.11:g.30211313G>A	ExAC,gnomAD
rs774795329	p.Thr439Met	missense variant	-	NC_000017.11:g.30211313G>A	NCI-TCGA,NCI-TCGA Cosmic
rs760402602	p.Phe440Leu	missense variant	-	NC_000017.11:g.30210646A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu444Gln	missense variant	-	NC_000017.11:g.30210634C>G	NCI-TCGA
rs1308476920	p.Gly445Trp	missense variant	-	NC_000017.11:g.30210631C>A	gnomAD
rs888825054	p.Val446Leu	missense variant	-	NC_000017.11:g.30210628C>A	TOPMed
rs750079448	p.Thr448Met	missense variant	-	NC_000017.11:g.30210621G>A	ExAC,gnomAD
rs1217609157	p.Thr448Ala	missense variant	-	NC_000017.11:g.30210622T>C	gnomAD
rs199890537	p.Ala449Gly	missense variant	-	NC_000017.11:g.30210618G>C	ExAC,TOPMed,gnomAD
rs1022398842	p.Leu451Met	missense variant	-	NC_000017.11:g.30210613G>T	TOPMed
rs1291723960	p.Asp452Asn	missense variant	-	NC_000017.11:g.30210610C>T	gnomAD
rs1291723960	p.Asp452Asn	missense variant	-	NC_000017.11:g.30210610C>T	NCI-TCGA
NCI-TCGA novel	p.Pro455Thr	missense variant	-	NC_000017.11:g.30210601G>T	NCI-TCGA
rs1250876597	p.His456Tyr	missense variant	-	NC_000017.11:g.30210598G>A	TOPMed,gnomAD
rs190758123	p.Val457Ile	missense variant	-	NC_000017.11:g.30210595C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs190758123	p.Val457Leu	missense variant	-	NC_000017.11:g.30210595C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs190758123	p.Val457Ile	missense variant	-	NC_000017.11:g.30210595C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala459Val	missense variant	-	NC_000017.11:g.30210588G>A	NCI-TCGA
rs1480151829	p.Arg461His	missense variant	-	NC_000017.11:g.30210582C>T	TOPMed,gnomAD
rs773355828	p.Arg461Cys	missense variant	-	NC_000017.11:g.30210583G>A	ExAC,gnomAD
rs1480151829	p.Arg461Leu	missense variant	-	NC_000017.11:g.30210582C>A	TOPMed,gnomAD
rs771843360	p.Arg462Trp	missense variant	-	NC_000017.11:g.30210580G>A	ExAC,TOPMed,gnomAD
rs748005133	p.Arg462Gln	missense variant	-	NC_000017.11:g.30210579C>T	ExAC,TOPMed,gnomAD
rs771843360	p.Arg462Trp	missense variant	-	NC_000017.11:g.30210580G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM4065246	p.Glu463Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30210576T>C	NCI-TCGA Cosmic
rs200180716	p.Arg464Gln	missense variant	-	NC_000017.11:g.30210573C>T	ExAC,TOPMed,gnomAD
rs201228840	p.Arg464Trp	missense variant	-	NC_000017.11:g.30210574G>A	ExAC,gnomAD
rs28914833	p.Phe465Leu	missense variant	-	NC_000017.11:g.30210571A>G	UniProt,dbSNP
VAR_036789	p.Phe465Leu	missense variant	-	NC_000017.11:g.30210571A>G	UniProt
rs28914833	p.Phe465Leu	missense variant	-	NC_000017.11:g.30210571A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767140114	p.Val466Met	missense variant	-	NC_000017.11:g.30210568C>T	ExAC,gnomAD
rs767140114	p.Val466Leu	missense variant	-	NC_000017.11:g.30210568C>A	ExAC,gnomAD
rs767140114	p.Val466Leu	missense variant	-	NC_000017.11:g.30210568C>G	ExAC,gnomAD
rs753124472	p.Ala468Pro	missense variant	-	NC_000017.11:g.30210562C>G	ExAC,gnomAD
rs753124472	p.Ala468Thr	missense variant	-	NC_000017.11:g.30210562C>T	ExAC,gnomAD
rs753124472	p.Ala468Thr	missense variant	-	NC_000017.11:g.30210562C>T	NCI-TCGA
COSM3515703	p.Ala468Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30210561G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala468Ser	missense variant	-	NC_000017.11:g.30210562C>A	NCI-TCGA
rs760161891	p.Val469Met	missense variant	-	NC_000017.11:g.30210559C>T	ExAC,TOPMed,gnomAD
rs760161891	p.Val469Met	missense variant	-	NC_000017.11:g.30210559C>T	NCI-TCGA
rs777035735	p.Thr472Ser	missense variant	-	NC_000017.11:g.30210549G>C	ExAC,gnomAD
rs777035735	p.Thr472Ile	missense variant	-	NC_000017.11:g.30210549G>A	ExAC,gnomAD
rs766432633	p.Cys473Ser	missense variant	-	NC_000017.11:g.30210546C>G	ExAC,gnomAD
NCI-TCGA novel	p.Cys473Phe	missense variant	-	NC_000017.11:g.30210546C>A	NCI-TCGA
rs565310860	p.Phe474Leu	missense variant	-	NC_000017.11:g.30210544A>G	1000Genomes,ExAC,gnomAD
COSM285131	p.Phe474Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30210542G>T	NCI-TCGA Cosmic
COSM4905361	p.Ser477Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30210534G>A	NCI-TCGA Cosmic
rs1408481123	p.Val479Ile	missense variant	-	NC_000017.11:g.30210529C>T	gnomAD
rs772344525	p.Thr480Ile	missense variant	-	NC_000017.11:g.30210525G>A	ExAC,gnomAD
rs747922477	p.Leu481Val	missense variant	-	NC_000017.11:g.30210523G>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr482Ala	missense variant	-	NC_000017.11:g.30210520T>C	NCI-TCGA
rs1441466151	p.Gly485Glu	missense variant	-	NC_000017.11:g.30209238C>T	gnomAD
rs1253653499	p.Ala486Thr	missense variant	-	NC_000017.11:g.30209236C>T	gnomAD
rs55908511	p.Val488Met	missense variant	-	NC_000017.11:g.30209230C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1324081	p.Lys490Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30209224T>C	NCI-TCGA Cosmic
rs1361567634	p.Leu492Pro	missense variant	-	NC_000017.11:g.30209217A>G	gnomAD
rs200510224	p.Glu494Asp	missense variant	-	NC_000017.11:g.30209210C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200510224	p.Glu494Asp	missense variant	-	NC_000017.11:g.30209210C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala496Val	missense variant	-	NC_000017.11:g.30209205G>A	NCI-TCGA
rs202166264	p.Thr497Ala	missense variant	-	NC_000017.11:g.30209203T>C	TOPMed
rs770596399	p.Thr497Met	missense variant	-	NC_000017.11:g.30209202G>A	ExAC,gnomAD
rs1360012953	p.Gly498Ala	missense variant	-	NC_000017.11:g.30209199C>G	gnomAD
rs1366793189	p.Ala500Thr	missense variant	-	NC_000017.11:g.30209194C>T	TOPMed,gnomAD
rs1162971941	p.Val501Ala	missense variant	-	NC_000017.11:g.30209190A>G	gnomAD
rs1162971941	p.Val501Gly	missense variant	-	NC_000017.11:g.30209190A>C	gnomAD
rs200080084	p.Ala505Val	missense variant	-	NC_000017.11:g.30209178G>A	ESP,ExAC,TOPMed,gnomAD
rs1384899793	p.Ala505Thr	missense variant	-	NC_000017.11:g.30209179C>T	TOPMed
rs750467787	p.Glu508Lys	missense variant	-	NC_000017.11:g.30209170C>T	ExAC,gnomAD
rs764370121	p.Ala511Ser	missense variant	-	NC_000017.11:g.30209161C>A	ExAC,gnomAD
rs764370121	p.Ala511Thr	missense variant	-	NC_000017.11:g.30209161C>T	ExAC,gnomAD
rs1178171471	p.Ala511Val	missense variant	-	NC_000017.11:g.30209160G>A	TOPMed
rs1354019846	p.Val512Met	missense variant	-	NC_000017.11:g.30209158C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser513Cys	missense variant	-	NC_000017.11:g.30209154G>C	NCI-TCGA
rs775200271	p.Trp514Cys	missense variant	-	NC_000017.11:g.30209150C>A	ExAC,gnomAD
rs759353073	p.Phe515Leu	missense variant	-	NC_000017.11:g.30209147G>T	ExAC,gnomAD
rs759353073	p.Phe515Leu	missense variant	-	NC_000017.11:g.30209147G>C	ExAC,gnomAD
rs956267339	p.Phe515Val	missense variant	-	NC_000017.11:g.30209149A>C	TOPMed
rs1340180605	p.Tyr516Cys	missense variant	-	NC_000017.11:g.30209145T>C	TOPMed,gnomAD
rs776642079	p.Thr519Ala	missense variant	-	NC_000017.11:g.30207827T>C	ExAC,gnomAD
rs776642079	p.Thr519Ser	missense variant	-	NC_000017.11:g.30207827T>A	ExAC,gnomAD
rs766490168	p.Cys522Arg	missense variant	-	NC_000017.11:g.30207818A>G	ExAC,gnomAD
rs1446514460	p.Arg523Lys	missense variant	-	NC_000017.11:g.30207814C>T	gnomAD
rs772894432	p.Val525Met	missense variant	-	NC_000017.11:g.30207809C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val525Glu	missense variant	-	NC_000017.11:g.30207808A>T	NCI-TCGA
rs544236344	p.Leu529Phe	missense variant	-	NC_000017.11:g.30207797G>A	1000Genomes
rs747712449	p.Leu529Pro	missense variant	-	NC_000017.11:g.30207796A>G	ExAC,gnomAD
rs374144565	p.Gly530Ser	missense variant	-	NC_000017.11:g.30207794C>T	ESP,ExAC,TOPMed,gnomAD
rs1234594653	p.Phe531Leu	missense variant	-	NC_000017.11:g.30207791A>G	gnomAD
rs781657921	p.Ser532Ile	missense variant	-	NC_000017.11:g.30207787C>A	ExAC,gnomAD
rs201114547	p.Pro533Leu	missense variant	-	NC_000017.11:g.30207784G>A	ExAC,gnomAD
rs777676943	p.Trp535Leu	missense variant	-	NC_000017.11:g.30207778C>A	ExAC,TOPMed
rs777676943	p.Trp535Ter	stop gained	-	NC_000017.11:g.30207778C>T	ExAC,TOPMed
rs1443264804	p.Trp537Ter	stop gained	-	NC_000017.11:g.30207772C>T	gnomAD
COSM4923532	p.Trp537Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30207773A>T	NCI-TCGA Cosmic
rs1335591070	p.Ile539Ser	missense variant	-	NC_000017.11:g.30207766A>C	TOPMed
NCI-TCGA novel	p.Ile539Asn	missense variant	-	NC_000017.11:g.30207766A>T	NCI-TCGA
rs907584878	p.Cys540Ter	stop gained	-	NC_000017.11:g.30207762G>T	gnomAD
rs558916313	p.Cys540Tyr	missense variant	-	NC_000017.11:g.30207763C>T	1000Genomes,ExAC,gnomAD
rs752804456	p.Trp541Ter	stop gained	-	NC_000017.11:g.30207759C>T	ExAC
rs765500675	p.Val542Met	missense variant	-	NC_000017.11:g.30207758C>T	ExAC,gnomAD
rs754815105	p.Ala543Thr	missense variant	-	NC_000017.11:g.30207755C>T	ExAC,gnomAD
rs753742568	p.Ile544Val	missense variant	-	NC_000017.11:g.30207752T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile544Thr	missense variant	-	NC_000017.11:g.30207751A>G	NCI-TCGA
rs753232412	p.Ser545Cys	missense variant	-	NC_000017.11:g.30207749T>A	gnomAD
NCI-TCGA novel	p.Pro546Arg	missense variant	-	NC_000017.11:g.30207745G>C	NCI-TCGA
rs1350322936	p.Phe548Leu	missense variant	-	NC_000017.11:g.30207740A>G	gnomAD
rs28914834	p.Leu550Val	missense variant	-	NC_000017.11:g.30207734G>C	UniProt,dbSNP
VAR_036790	p.Leu550Val	missense variant	-	NC_000017.11:g.30207734G>C	UniProt
rs28914834	p.Leu550Val	missense variant	-	NC_000017.11:g.30207734G>C	ExAC,TOPMed,gnomAD
rs1180368034	p.Ser555Gly	missense variant	-	NC_000017.11:g.30203327T>C	gnomAD
rs763707645	p.Ser555Thr	missense variant	-	NC_000017.11:g.30203326C>G	ExAC
COSM977268	p.Leu557Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30203320A>G	NCI-TCGA Cosmic
rs762554912	p.Met558Arg	missense variant	-	NC_000017.11:g.30203317A>C	ExAC,TOPMed
rs771228274	p.Ser559Arg	missense variant	-	NC_000017.11:g.30203313G>T	ExAC,gnomAD
rs1263969034	p.Pro560Leu	missense variant	-	NC_000017.11:g.30203311G>A	TOPMed,gnomAD
rs773586674	p.Pro561Ser	missense variant	-	NC_000017.11:g.30203309G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln562Ter	stop gained	-	NC_000017.11:g.30203306G>A	NCI-TCGA
rs200740988	p.Arg564Gln	missense variant	-	NC_000017.11:g.30203299C>T	ExAC,TOPMed,gnomAD
rs1222693893	p.Arg564Ter	stop gained	-	NC_000017.11:g.30203300G>A	gnomAD
rs779088918	p.Tyr568His	missense variant	-	NC_000017.11:g.30203288A>G	ExAC,gnomAD
rs1342054504	p.Tyr570Phe	missense variant	-	NC_000017.11:g.30203281T>A	gnomAD
rs768885008	p.Tyr570Asn	missense variant	-	NC_000017.11:g.30203282A>T	ExAC
rs1278275096	p.Pro571Arg	missense variant	-	NC_000017.11:g.30203278G>C	gnomAD
rs749470382	p.Trp573Gly	missense variant	-	NC_000017.11:g.30203273A>C	ExAC,gnomAD
rs199832478	p.Ile576Val	missense variant	-	NC_000017.11:g.30203264T>C	gnomAD
rs1458183826	p.Gly578Asp	missense variant	-	NC_000017.11:g.30203257C>T	TOPMed,gnomAD
rs1349059348	p.Ile581Lys	missense variant	-	NC_000017.11:g.30203248A>T	gnomAD
NCI-TCGA novel	p.Ile581MetPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.30203246_30203247CT>-	NCI-TCGA
NCI-TCGA novel	p.Thr583Ala	missense variant	-	NC_000017.11:g.30203243T>C	NCI-TCGA
NCI-TCGA novel	p.Ser584Ter	stop gained	-	NC_000017.11:g.30203239G>T	NCI-TCGA
NCI-TCGA novel	p.Ser585Phe	missense variant	-	NC_000017.11:g.30203236G>A	NCI-TCGA
rs780432538	p.Phe586Leu	missense variant	-	NC_000017.11:g.30203234A>G	ExAC,gnomAD
rs1233313572	p.Phe586Leu	missense variant	-	NC_000017.11:g.30203232G>T	TOPMed
rs750295534	p.Ile587Leu	missense variant	-	NC_000017.11:g.30203231T>G	ExAC,gnomAD
rs750295534	p.Ile587Val	missense variant	-	NC_000017.11:g.30203231T>C	ExAC,gnomAD
rs1476888015	p.Pro590Leu	missense variant	-	NC_000017.11:g.30203221G>A	gnomAD
rs757262209	p.Thr591Lys	missense variant	-	NC_000017.11:g.30203218G>T	ExAC,gnomAD
rs1192255974	p.Ile593Val	missense variant	-	NC_000017.11:g.30203213T>C	TOPMed,gnomAD
rs201481838	p.Arg596Trp	missense variant	-	NC_000017.11:g.30203204G>A	TOPMed
rs200544663	p.Arg596Gln	missense variant	-	NC_000017.11:g.30203203C>T	TOPMed
rs762463325	p.Leu597Phe	missense variant	-	NC_000017.11:g.30203199C>A	ExAC,gnomAD
rs1483597826	p.Ile599Val	missense variant	-	NC_000017.11:g.30203195T>C	TOPMed
rs75354642	p.Pro601Ser	missense variant	-	NC_000017.11:g.30203189G>A	ESP,ExAC,TOPMed,gnomAD
rs764936225	p.Pro601Leu	missense variant	-	NC_000017.11:g.30203188G>A	ExAC,gnomAD
rs6352	p.Lys605Asn	missense variant	-	NC_000017.11:g.30203175T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000280167	p.Lys605Asn	missense variant	Behavior disorder	NC_000017.11:g.30203175T>G	ClinVar
rs200015551	p.Arg607Cys	missense variant	-	NC_000017.11:g.30198530G>A	ESP,ExAC,gnomAD
rs757900848	p.Arg607His	missense variant	-	NC_000017.11:g.30198529C>T	ExAC,TOPMed,gnomAD
rs752261598	p.Ile608Phe	missense variant	-	NC_000017.11:g.30198527T>A	ExAC,TOPMed,gnomAD
rs775165264	p.Lys610Arg	missense variant	-	NC_000017.11:g.30198520T>C	TOPMed,gnomAD
rs775165264	p.Lys610Thr	missense variant	-	NC_000017.11:g.30198520T>G	TOPMed,gnomAD
rs201520429	p.Lys610Gln	missense variant	-	NC_000017.11:g.30198521T>G	1000Genomes
rs201520429	p.Lys610Glu	missense variant	-	NC_000017.11:g.30198521T>C	1000Genomes
rs764848273	p.Ser611Thr	missense variant	-	NC_000017.11:g.30198517C>G	ExAC,gnomAD
rs752898241	p.Ile612Val	missense variant	-	NC_000017.11:g.30198515T>C	gnomAD
rs375913512	p.Pro617Leu	missense variant	-	NC_000017.11:g.30198499G>A	ESP,ExAC,TOPMed,gnomAD
rs375913512	p.Pro617Arg	missense variant	-	NC_000017.11:g.30198499G>C	ESP,ExAC,TOPMed,gnomAD
rs1161007387	p.Pro617Ser	missense variant	-	NC_000017.11:g.30198500G>A	gnomAD
NCI-TCGA novel	p.Glu619AspPheSerTerUnk	stop gained	-	NC_000017.11:g.30198492_30198493insTCTGTTGGTATGATCATTGGTATCTGATA	NCI-TCGA
rs1380052080	p.Pro621Ser	missense variant	-	NC_000017.11:g.30198488G>A	gnomAD
rs767870286	p.Gly623Arg	missense variant	-	NC_000017.11:g.30198482C>T	ExAC,gnomAD
rs762095684	p.Ile625Thr	missense variant	-	NC_000017.11:g.30198475A>G	ExAC,gnomAD
rs142441982	p.Arg626Leu	missense variant	-	NC_000017.11:g.30198472C>A	ESP,ExAC,TOPMed,gnomAD
rs142441982	p.Arg626His	missense variant	-	NC_000017.11:g.30198472C>T	ESP,ExAC,TOPMed,gnomAD
rs774928752	p.Arg626Cys	missense variant	-	NC_000017.11:g.30198473G>A	ExAC,gnomAD
rs1354400366	p.Ala629Val	missense variant	-	NC_000017.11:g.30198463G>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001723	Affective Disorders, Psychotic	group	BEFREE;PSYGENET
C0001726	Affective Symptoms	phenotype	BEFREE
C0001818	Agoraphobia	disease	BEFREE
C0001956	Alcohol Use Disorder	disease	BEFREE;CTD_human
C0001957	Alcohol Withdrawal Delirium	disease	BEFREE
C0001969	Alcoholic Intoxication	disease	PSYGENET
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE;CTD_human;LHGDN;PSYGENET
C0002395	Alzheimer's Disease	disease	BEFREE;LHGDN
C0002624	Retrograde amnesia	disease	BEFREE
C0003123	Anorexia	disease	BEFREE
C0003125	Anorexia Nervosa	disease	BEFREE;LHGDN
C0003431	Antisocial Personality Disorder	disease	BEFREE
C0003467	Anxiety	disease	BEFREE
C0003469	Anxiety Disorders	group	BEFREE;CTD_human;RGD
C0003944	As If Personality	disease	CTD_human
C0004096	Asthma	disease	BEFREE
C0004153	Atherosclerosis	disease	LHGDN
C0004352	Autistic Disorder	group	BEFREE;CTD_human;LHGDN;MGD
C0004444	Avoidant Personality Disorder	phenotype	CTD_human
C0004930	Behavior Disorders	group	BEFREE
C0004936	Mental disorders	group	BEFREE;LHGDN
C0004943	Behcet Syndrome	disease	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;CTD_human;LHGDN;PSYGENET
C0005587	Depression, Bipolar	disease	BEFREE;CTD_human;PSYGENET
C0005874	Blushing	phenotype	BEFREE
C0006012	Borderline Personality Disorder	disease	BEFREE
C0006111	Brain Diseases	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006287	Bronchopulmonary Dysplasia	disease	BEFREE
C0006370	Bulimia	disease	BEFREE;LHGDN
C0006430	Burning Mouth Syndrome	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007194	Hypertrophic Cardiomyopathy	disease	BEFREE
C0007222	Cardiovascular Diseases	group	BEFREE;LHGDN
C0007570	Celiac Disease	disease	BEFREE
C0007682	CNS disorder	group	BEFREE
C0008060	child abuse behavior	phenotype	BEFREE
C0009086	Cluster B personality disorder	disease	BEFREE
C0009087	Cluster C personality disorder	disease	BEFREE
C0009088	Cluster Headache	disease	BEFREE
C0009171	Cocaine Abuse	disease	BEFREE;CTD_human
C0009241	Cognition Disorders	group	CTD_human
C0009319	Colitis	disease	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009806	Constipation	phenotype	BEFREE
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0011253	Delusions	disease	BEFREE
C0011265	Presenile dementia	disease	BEFREE
C0011269	Dementia, Vascular	disease	BEFREE
C0011570	Mental Depression	disease	BEFREE;PSYGENET;RGD
C0011573	Endogenous depression	disease	CTD_human
C0011574	Involutional Depression	disease	CTD_human
C0011581	Depressive disorder	disease	BEFREE;CTD_human;LHGDN;PSYGENET
C0011615	Dermatitis, Atopic	disease	LHGDN
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0011991	Diarrhea	phenotype	BEFREE
C0012813	Diverticulitis	disease	BEFREE;LHGDN
C0013146	Drug abuse	disease	BEFREE;CTD_human
C0013170	Drug habituation	phenotype	BEFREE;CTD_human
C0013222	Drug Use Disorders	group	CTD_human
C0013274	Patent ductus arteriosus	disease	BEFREE
C0013364	Dysautonomia, Familial	disease	BEFREE
C0013395	Dyspepsia	phenotype	BEFREE
C0013404	Dyspnea	phenotype	BEFREE
C0013415	Dysthymic Disorder	disease	BEFREE;PSYGENET
C0013473	Eating Disorders	group	BEFREE
C0013985	Emotional Disturbances	phenotype	BEFREE
C0014175	Endometriosis	disease	BEFREE
C0014556	Epilepsy, Temporal Lobe	disease	BEFREE;LHGDN
C0015672	Fatigue	phenotype	BEFREE;LHGDN
C0015674	Chronic Fatigue Syndrome	disease	BEFREE;LHGDN
C0016053	Fibromyalgia	disease	BEFREE;LHGDN
C0016667	Fragile X Syndrome	disease	BEFREE
C0017178	Gastrointestinal Diseases	group	BEFREE
C0018524	Hallucinations	disease	BEFREE
C0018681	Headache	phenotype	BEFREE
C0018798	Congenital Heart Defects	group	BEFREE
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0018824	Heart valve disease	group	BEFREE
C0019337	Heroin Dependence	disease	BEFREE
C0019693	HIV Infections	group	BEFREE
C0020179	Huntington Disease	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE;LHGDN
C0020542	Pulmonary Hypertension	phenotype	CTD_human;LHGDN;RGD
C0021124	Impulse-Ridden Personality	phenotype	CTD_human
C0021125	Impulsive Behavior	phenotype	BEFREE
C0021139	Inadequate Personality	phenotype	CTD_human
C0021294	Infant, Premature	phenotype	BEFREE
C0021390	Inflammatory Bowel Diseases	group	LHGDN
C0022104	Irritable Bowel Syndrome	disease	BEFREE;LHGDN
C0023522	Leukodystrophy, Metachromatic	disease	LHGDN
C0023903	Liver neoplasms	group	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE;LHGDN
C0024299	Lymphoma	group	BEFREE
C0024517	Major depression, single episode	disease	BEFREE
C0024713	Manic Disorder	disease	CTD_human
C0024809	Marijuana Abuse	disease	BEFREE;PSYGENET
C0025193	Melancholia	disease	BEFREE;CTD_human;PSYGENET
C0025261	Memory Disorders	disease	CTD_human
C0026499	Monosomy	group	BEFREE
C0027051	Myocardial Infarction	disease	BEFREE;LHGDN
C0027402	Narcissistic Personality Disorder	phenotype	CTD_human
C0027497	Nausea	phenotype	BEFREE
C0027765	nervous system disorder	group	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0028043	Nicotine Dependence	disease	BEFREE
C0028754	Obesity	disease	BEFREE
C0028768	Obsessive-Compulsive Disorder	disease	BEFREE;CTD_human;LHGDN
C0029121	Oppositional Defiant Disorder	disease	BEFREE
C0029231	Organic Mental Disorders, Substance-Induced	disease	CTD_human
C0029453	Osteopenia	disease	BEFREE
C0030193	Pain	phenotype	BEFREE
C0030201	Pain, Postoperative	phenotype	BEFREE
C0030319	Panic Disorder	disease	BEFREE;LHGDN
C0030567	Parkinson Disease	disease	BEFREE;LHGDN
C0031212	Personality Disorders	group	BEFREE;CTD_human
C0031572	Phobia, Social	disease	BEFREE
C0032962	Pregnancy Complications	group	BEFREE
C0032969	Pregnancy in Diabetics	phenotype	BEFREE
C0033139	Primary Insomnia	disease	BEFREE
C0033975	Psychotic Disorders	group	BEFREE
C0034091	Pulmonary Veno-Occlusive Disease (disorder)	disease	LHGDN
C0036337	Schizoaffective Disorder	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;CTD_human;LHGDN
C0036421	Systemic Scleroderma	disease	BEFREE
C0037315	Sleep Apnea Syndromes	group	LHGDN
C0037317	Sleep disturbances	group	BEFREE
C0038271	Stereotyped Behavior	phenotype	BEFREE
C0038273	Stereotypic Movement Disorder	phenotype	BEFREE
C0038363	Aphthous Stomatitis	disease	LHGDN
C0038436	Post-Traumatic Stress Disorder	disease	BEFREE
C0038443	Stress, Psychological	disease	BEFREE
C0038454	Cerebrovascular accident	group	BEFREE
C0038580	Substance Dependence	disease	BEFREE;CTD_human
C0038586	Substance Use Disorders	group	BEFREE;CTD_human
C0038587	Substance Withdrawal Syndrome	disease	CTD_human
C0038644	Sudden infant death syndrome	disease	BEFREE;CTD_human;LHGDN;MGD
C0039101	synovial sarcoma	disease	BEFREE
C0040517	Gilles de la Tourette syndrome	disease	BEFREE
C0040997	Trigeminal Neuralgia	disease	BEFREE
C0041696	Unipolar Depression	disease	BEFREE;CTD_human;PSYGENET
C0042373	Vascular Diseases	group	BEFREE
C0042693	Violence	phenotype	BEFREE
C0085077	Sweet Syndrome	disease	BEFREE
C0085159	Seasonal Affective Disorder	disease	BEFREE;PSYGENET
C0085207	Gestational Diabetes	phenotype	BEFREE
C0085280	Alagille Syndrome	disease	BEFREE
C0085281	Addictive Behavior	phenotype	BEFREE
C0085625	Hypoalgesia	phenotype	BEFREE
C0085633	Mood swings	disease	BEFREE
C0085762	Alcohol abuse	disease	BEFREE;CTD_human;PSYGENET
C0086132	Depressive Symptoms	phenotype	BEFREE
C0086133	Depressive Syndrome	disease	BEFREE;CTD_human
C0086189	Drug Withdrawal Symptoms	phenotype	CTD_human
C0086769	Panic Attacks	disease	BEFREE
C0086981	Sicca Syndrome	disease	BEFREE
C0087169	Withdrawal Symptoms	phenotype	BEFREE;CTD_human
C0149654	Conduct Disorder	disease	BEFREE;LHGDN
C0149721	Left Ventricular Hypertrophy	disease	BEFREE
C0149779	Somatization	disease	BEFREE
C0149931	Migraine Disorders	group	BEFREE;LHGDN
C0150055	Chronic pain	phenotype	BEFREE
C0151546	Oral Cavity Carcinoma	disease	BEFREE
C0152171	Idiopathic pulmonary hypertension	disease	BEFREE
C0154409	Recurrent major depressive episodes	disease	BEFREE
C0154437	Atypical depressive disorder	disease	BEFREE
C0154455	Other anxiety states	disease	RGD
C0154575	Rumination Disorders	group	BEFREE
C0154723	Migraine with Aura	disease	BEFREE;LHGDN
C0155626	Acute myocardial infarction	disease	BEFREE
C0178417	Anhedonia	disease	PSYGENET
C0202236	Triglycerides measurement	phenotype	GWASDB
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0221074	Depression, Postpartum	disease	BEFREE;PSYGENET
C0221480	Recurrent depression	disease	BEFREE;PSYGENET
C0232462	Decrease in appetite	phenotype	BEFREE
C0232717	Rectal sensation	phenotype	BEFREE
C0233397	Psychological symptom	phenotype	BEFREE
C0233401	Psychiatric symptom	phenotype	BEFREE
C0233477	Dysphoric mood	disease	BEFREE;PSYGENET
C0233514	Abnormal behavior	phenotype	BEFREE
C0233523	Antisocial behavior	phenotype	BEFREE
C0233576	Mannerism	phenotype	BEFREE
C0233610	Negativism in catatonia	disease	BEFREE
C0233622	Ritual compulsion	phenotype	BEFREE
C0233629	Thinking and speaking disturbances	phenotype	BEFREE
C0233697	Obsessions	disease	BEFREE
C0233794	Memory impairment	phenotype	BEFREE;CTD_human
C0236642	Pick Disease of the Brain	disease	BEFREE
C0236663	Alcohol withdrawal syndrome	disease	BEFREE
C0236733	Amphetamine-Related Disorders	group	CTD_human
C0236736	Cocaine-Related Disorders	group	CTD_human
C0236788	Bipolar II disorder	disease	BEFREE
C0236792	Asperger Syndrome	disease	CTD_human
C0236800	Panic disorder with agoraphobia	disease	BEFREE
C0236804	Amphetamine Addiction	disease	CTD_human
C0236807	Amphetamine Abuse	disease	CTD_human
C0236816	Stress Disorders, Traumatic, Acute	group	BEFREE
C0236969	Substance-Related Disorders	group	CTD_human
C0237123	Alcohol or Other Drugs use	disease	BEFREE
C0238421	Selenium deficiency	disease	BEFREE
C0242510	Drug usage	phenotype	BEFREE
C0262376	anxiety generalized	disease	BEFREE
C0270549	Generalized Anxiety Disorder	disease	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0282126	Depression, Neurotic	disease	CTD_human
C0302826	Expressed Emotion	phenotype	BEFREE
C0338451	Frontotemporal dementia	disease	BEFREE
C0338480	Common Migraine	disease	BEFREE;LHGDN
C0338656	Impaired cognition	disease	BEFREE
C0338715	Drug-induced depressive state	disease	PSYGENET
C0338831	Manic	disease	BEFREE;CTD_human
C0338908	Mixed anxiety and depressive disorder	disease	BEFREE
C0344315	Depressed mood	phenotype	PSYGENET
C0349204	Nonorganic psychosis	disease	BEFREE
C0349217	Depressive episode, unspecified	disease	BEFREE
C0349782	Ischemic cardiomyopathy	disease	BEFREE
C0376280	Anxiety States, Neurotic	disease	CTD_human
C0392885	High density lipoprotein measurement	phenotype	GWASDB
C0393738	Chronic tension-type headache	disease	BEFREE
C0400821	Colitis, Microscopic	disease	BEFREE
C0424139	Anxiety and fear	disease	BEFREE
C0424166	Social Anxiety	disease	BEFREE
C0424295	Hyperactive behavior	phenotype	BEFREE
C0424296	Social disinhibition	phenotype	BEFREE
C0432215	Progressive pseudorheumatoid dysplasia	disease	BEFREE
C0432306	Ichthyosis Bullosa of Siemens	disease	BEFREE
C0458631	Performance anxiety	disease	BEFREE
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE
C0497169	hiv-infection/aids	disease	BEFREE
C0497327	Dementia	disease	BEFREE;LHGDN
C0497406	Overweight	phenotype	BEFREE
C0518989	Acute diverticulitis	disease	BEFREE
C0520676	Premenstrual Dysphoric Disorder	disease	BEFREE
C0520679	Sleep Apnea, Obstructive	disease	BEFREE;LHGDN
C0521991	Symptoms of stress	phenotype	BEFREE
C0522174	Delinquent behavior	phenotype	BEFREE
C0522254	Analgesic Overuse Headache	disease	BEFREE
C0524528	Pervasive Development Disorder	group	BEFREE
C0524620	Metabolic Syndrome X	disease	BEFREE
C0524851	Neurodegenerative Disorders	group	BEFREE
C0525045	Mood Disorders	group	BEFREE;CTD_human;LHGDN;PSYGENET
C0549393	Alcohol problem	phenotype	BEFREE
C0549622	Sexual Dysfunction	group	BEFREE
C0559031	Functional Gastrointestinal Disorders	disease	BEFREE
C0564567	Impulsive character (finding)	phenotype	BEFREE
C0581391	Chronic depression	disease	BEFREE;PSYGENET
C0588008	Severe depression	disease	BEFREE;PSYGENET
C0600104	Obsessive compulsive behavior	disease	BEFREE
C0600142	Hot flushes	phenotype	BEFREE
C0600427	Cocaine Dependence	disease	BEFREE;CTD_human;PSYGENET
C0677607	Hashimoto Disease	disease	BEFREE
C0677660	Emotional problems	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0679309	physical symptom	group	BEFREE
C0683342	hazardous drinking	phenotype	BEFREE
C0687132	heavy drinking	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0730525	Chronic Post-Traumatic Stress Disorder	disease	BEFREE
C0730557	Emotional abuse	phenotype	BEFREE
C0740858	Substance abuse problem	disease	BEFREE;CTD_human
C0741923	cardiac event	phenotype	BEFREE
C0747249	Paranoid ideation	disease	BEFREE
C0747845	early pregnancy	phenotype	BEFREE
C0751265	Learning Disabilities	disease	BEFREE
C0751292	Age-Related Memory Disorders	disease	CTD_human
C0751293	Memory Disorder, Semantic	disease	CTD_human
C0751294	Memory Disorder, Spatial	disease	CTD_human
C0751295	Memory Loss	phenotype	CTD_human
C0815107	psychological distress	disease	BEFREE
C0848237	acute stress	phenotype	BEFREE
C0849963	Feeling nervous	phenotype	BEFREE
C0851578	Sleep Disorders	group	BEFREE
C0852733	Completed Suicide	phenotype	BEFREE
C0853193	Bipolar I disorder	disease	BEFREE
C0855173	Placental Choriocarcinoma	disease	BEFREE
C0855228	Eating disorder symptom	phenotype	BEFREE
C0856977	Childhood aggression	phenotype	BEFREE
C0865424	Adult attention deficit hyperactivity disorder	disease	BEFREE
C0871189	Psychotic symptom	phenotype	BEFREE
C0871388	social stress	disease	BEFREE
C0917801	Sleeplessness	phenotype	BEFREE
C0948089	Acute Coronary Syndrome	disease	BEFREE
C1263846	Attention deficit hyperactivity disorder	disease	BEFREE;LHGDN
C1269683	Major Depressive Disorder	disease	BEFREE;CTD_human;PSYGENET
C1279420	Anxiety neurosis (finding)	disease	CTD_human
C1397307	Cardiac fibrosis	disease	BEFREE
C1443924	Severe diarrhea	phenotype	BEFREE
C1456624	Methamphetamine abuse	disease	BEFREE
C1510472	Drug Dependence	phenotype	BEFREE;CTD_human
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1524032	Depression and Suicide	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1533217	Methamphetamine dependence	disease	BEFREE
C1571983	Involutional paraphrenia	disease	CTD_human
C1571984	Psychosis, Involutional	disease	CTD_human
C1839839	MAJOR AFFECTIVE DISORDER 2	disease	BEFREE
C1842981	NEUROTICISM	disease	BEFREE
C1852197	MAJOR AFFECTIVE DISORDER 1	disease	BEFREE
C1868649	PANIC DISORDER 1	disease	BEFREE
C1868675	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	disease	RGD
C1956346	Coronary Artery Disease	disease	BEFREE
C1960870	Transformed migraine	disease	BEFREE
C1970943	MAJOR AFFECTIVE DISORDER 4	disease	BEFREE
C1970945	MAJOR AFFECTIVE DISORDER 6	disease	BEFREE
C2063866	Depressive Disorder, Treatment-Resistant	disease	BEFREE;PSYGENET
C2239176	Liver carcinoma	disease	BEFREE
C2266670	ritualistic behavior (symptom)	phenotype	BEFREE
C2267227	Bulimia Nervosa	disease	BEFREE;LHGDN
C2362914	clinical depression	disease	BEFREE
C2363973	Chronic thromboembolic pulmonary hypertension	disease	BEFREE
C2700438	MAJOR AFFECTIVE DISORDER 7	disease	BEFREE
C2700439	MAJOR AFFECTIVE DISORDER 8	disease	BEFREE
C2700440	MAJOR AFFECTIVE DISORDER 9	disease	BEFREE
C2745948	Hyalinosis, Systemic	disease	BEFREE
C3160718	PARKINSON DISEASE, LATE-ONSET	disease	BEFREE
C3160814	Cannabis use	disease	PSYGENET
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE
C3496069	cocaine use	disease	BEFREE
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND
C3826462	Depression in children	disease	BEFREE
C4011788	Behavioral variant of frontotemporal dementia	disease	BEFREE
C4075720	Severe alcohol dependence	disease	BEFREE
C4316881	Prescription Drug Abuse	phenotype	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005335	serotonin:sodium symporter activity	IBA
GO:0005335	serotonin:sodium symporter activity	IDA
GO:0005335	serotonin:sodium symporter activity	TAS
GO:0005515	protein binding	IPI
GO:0008504	monoamine transmembrane transporter activity	IDA
GO:0017075	syntaxin-1 binding	IEA
GO:0019811	cocaine binding	IEA
GO:0042802	identical protein binding	ISS
GO:0046872	metal ion binding	IEA
GO:0050998	nitric-oxide synthase binding	IEA
GO:0051015	actin filament binding	ISS
GO:0051378	serotonin binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001666	response to hypoxia	IEA
GO:0007584	response to nutrient	IEA
GO:0007613	memory	IEA
GO:0007623	circadian rhythm	IEA
GO:0009636	response to toxic substance	IDA
GO:0010628	positive regulation of gene expression	IEA
GO:0014064	positive regulation of serotonin secretion	IEA
GO:0015844	monoamine transport	IDA
GO:0021941	negative regulation of cerebellar granule cell precursor proliferation	IEA
GO:0032227	negative regulation of synaptic transmission, dopaminergic	IEA
GO:0032355	response to estradiol	IEA
GO:0035176	social behavior	ISS
GO:0042136	neurotransmitter biosynthetic process	TAS
GO:0042310	vasoconstriction	IEA
GO:0042493	response to drug	IEA
GO:0042713	sperm ejaculation	IEA
GO:0045665	negative regulation of neuron differentiation	IEA
GO:0045787	positive regulation of cell cycle	IEA
GO:0046621	negative regulation of organ growth	ISS
GO:0048854	brain morphogenesis	ISS
GO:0051610	serotonin uptake	IDA
GO:0051610	serotonin uptake	IBA
GO:0051610	serotonin uptake	IMP
GO:0055085	transmembrane transport	IEA
GO:0071300	cellular response to retinoic acid	IEA
GO:0071321	cellular response to cGMP	IEA
GO:0090067	regulation of thalamus size	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005925	focal adhesion	ISS
GO:0010008	endosome membrane	IEA
GO:0012505	endomembrane system	IDA
GO:0043005	neuron projection	IBA
GO:0045121	membrane raft	IDA
GO:0045202	synapse	ISS
GO:0099055	integral component of postsynaptic membrane	IEA
GO:0099056	integral component of presynaptic membrane	IEA
GO:0099154	serotonergic synapse	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-112311	Neurotransmitter clearance	TAS
R-HSA-112315	Transmission across Chemical Synapses	TAS
R-HSA-112316	Neuronal System	TAS
R-HSA-380615	Serotonin clearance from the synaptic cleft	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D019813	1,2-Dimethylhydrazine	1,2-Dimethylhydrazine results in increased expression of SLC6A4 mRNA	22750881
D019813	1,2-Dimethylhydrazine	Dietary Fats inhibits the reaction [1,2-Dimethylhydrazine results in increased expression of SLC6A4 mRNA]	22750881
C015068	1-(3-chlorophenyl)piperazine	SLC6A4 protein affects the susceptibility to 1-(3-chlorophenyl)piperazine	25522398
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in decreased expression of SLC6A4 protein	20882603
C000592273	1-phenyl-2-(1-pyrrolidinyl)-1-pentanone	1-phenyl-2-(1-pyrrolidinyl)-1-pentanone inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
C000592273	1-phenyl-2-(1-pyrrolidinyl)-1-pentanone	1-phenyl-2-(1-pyrrolidinyl)-1-pentanone inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of SLC6A4 mRNA	19114083
C569113	2-(3-methoxyphenyl)-2-(ethylamino)cyclohexanone	2-(3-methoxyphenyl)-2-(ethylamino)cyclohexanone inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
C569113	2-(3-methoxyphenyl)-2-(ethylamino)cyclohexanone	2-(3-methoxyphenyl)-2-(ethylamino)cyclohexanone inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl results in increased expression of SLC6A4 mRNA	23146750
C079321	2-(4-bromo-2,5-dimethoxyphenyl)ethylamine	2-(4-bromo-2,5-dimethoxyphenyl)ethylamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
C079321	2-(4-bromo-2,5-dimethoxyphenyl)ethylamine	2-(4-bromo-2,5-dimethoxyphenyl)ethylamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
C000595926	2-(4-bromo-2,5-dimethoxyphenyl)-N-((2-methoxyphenyl)methyl)ethanamine	2-(4-bromo-2,5-dimethoxyphenyl)-N-((2-methoxyphenyl)methyl)ethanamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
C000595926	2-(4-bromo-2,5-dimethoxyphenyl)-N-((2-methoxyphenyl)methyl)ethanamine	2-(4-bromo-2,5-dimethoxyphenyl)-N-((2-methoxyphenyl)methyl)ethanamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
C554181	2-(4-iodo-2,5-dimethoxyphenyl)-N-(2-methoxybenzyl)ethanamine	2-(4-iodo-2,5-dimethoxyphenyl)-N-(2-methoxybenzyl)ethanamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
C554181	2-(4-iodo-2,5-dimethoxyphenyl)-N-(2-methoxybenzyl)ethanamine	2-(4-iodo-2,5-dimethoxyphenyl)-N-(2-methoxybenzyl)ethanamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
C069723	2beta-carbomethoxy-3beta-(4-iodophenyl)tropane	2beta-carbomethoxy-3beta-(4-iodophenyl)tropane binds to and results in decreased activity of SLC6A4 protein	16272152
C069723	2beta-carbomethoxy-3beta-(4-iodophenyl)tropane	2beta-carbomethoxy-3beta-(4-iodophenyl)tropane binds to SLC6A4 protein	15972295
D012369	2H-Benzo(a)quinolizin-2-ol, 2-Ethyl-1,3,4,6,7,11b-hexahydro-3-isobutyl-9,10-dimethoxy-	2H-Benzo(a)quinolizin-2-ol, 2-Ethyl-1,3,4,6,7,11b-hexahydro-3-isobutyl-9,10-dimethoxy- inhibits the reaction [N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SLC6A4 protein]	25370842
C025946	3-methyladenine	3-methyladenine inhibits the reaction [N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SLC6A4 protein]	26610922
C008745	4,4'-bisphenol F	4,4'-bisphenol F results in decreased expression of SLC6A4 mRNA	26186136
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of SLC6A4 protein	26116029
C079549	4-(benzodioxan-5-yl)-1-(indan-2-yl)piperazine	SLC6A4 results in increased susceptibility to 4-(benzodioxan-5-yl)-1-(indan-2-yl)piperazine	18581099
C040639	4-fluoroamphetamine	4-fluoroamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
C040639	4-fluoroamphetamine	4-fluoroamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
C060169	4-methoxymethamphetamine	4-methoxymethamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
C060169	4-methoxymethamphetamine	4-methoxymethamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
C000081	4-methylaminorex	4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	30776375
C000081	4-methylaminorex	4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	24841869
C000608250	5-(2-aminopropyl)benzofuran	5-(2-aminopropyl)benzofuran inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
C000608250	5-(2-aminopropyl)benzofuran	5-(2-aminopropyl)benzofuran inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D015116	5,7-Dihydroxytryptamine	5,7-Dihydroxytryptamine results in decreased expression of SLC6A4 protein	16054768
D017371	8-Hydroxy-2-(di-n-propylamino)tetralin	SLC6A4 results in increased susceptibility to 8-Hydroxy-2-(di-n-propylamino)tetralin	18581099
D000082	Acetaminophen	Acetaminophen results in increased activity of SLC6A4 protein	10849027
D019386	Alendronate	Alendronate affects the expression of SLC6A4 mRNA	16079270
D000635	Aminorex	Aminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	24841869
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SLC6A4 mRNA	16483693
D000661	Amphetamine	Amphetamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D000661	Amphetamine	Amphetamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of SLC6A4 mRNA	24449571
D000068180	Aripiprazole	Aripiprazole binds to SLC6A4 protein	21823597
C027423	aroclor 1242	[Chlorodiphenyl (54% Chlorine) co-treated with aroclor 1242 co-treated with aroclor 1248] results in decreased expression of SLC6A4 mRNA	29879404
C028617	aroclor 1248	[Chlorodiphenyl (54% Chlorine) co-treated with aroclor 1242 co-treated with aroclor 1248] results in decreased expression of SLC6A4 mRNA	29879404
D001151	Arsenic	Arsenic results in increased expression of SLC6A4 mRNA	18315880
D000069059	Atorvastatin	Atorvastatin inhibits the reaction [Monocrotaline results in increased expression of SLC6A4 protein]	17575010
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SLC6A4 mRNA	26238291
D015306	Biogenic Monoamines	1-phenyl-2-(1-pyrrolidinyl)-1-pentanone inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	2-(3-methoxyphenyl)-2-(ethylamino)cyclohexanone inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	2-(4-bromo-2,5-dimethoxyphenyl)ethylamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	2-(4-bromo-2,5-dimethoxyphenyl)-N-((2-methoxyphenyl)methyl)ethanamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	2-(4-iodo-2,5-dimethoxyphenyl)-N-(2-methoxybenzyl)ethanamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	4-fluoroamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	4-methoxymethamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	5-(2-aminopropyl)benzofuran inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	Amphetamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	Cocaine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	Fluoxetine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	N-Methyl-3,4-methylenedioxyamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D015306	Biogenic Monoamines	SLC6A4 protein results in increased import of Biogenic Monoamines analog	28506818
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of SLC6A4 mRNA	30951980
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of SLC6A4 mRNA	26186136
C006780	bisphenol A	bisphenol A results in increased expression of SLC6A4 mRNA	23146750
C006780	bisphenol A	bisphenol A results in increased expression of SLC6A4 mRNA	23567477; 30951980;
C006780	bisphenol A	bisphenol A affects the expression of SLC6A4 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of SLC6A4 mRNA	26141625
C000611646	bisphenol F	bisphenol F results in increased expression of SLC6A4 mRNA	30951980
D016642	Bupropion	SLC6A4 polymorphism affects the susceptibility to Bupropion	21658141
D002104	Cadmium	Cadmium binds to SLC6A4 protein mutant form	16272152
D002220	Carbamazepine	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in decreased expression of SLC6A4 mRNA	22701549
C010063	carbonyl sulfide	carbonyl sulfide results in decreased expression of SLC6A4 mRNA	19395590
C084597	chlorcyclizine	chlorcyclizine results in increased expression of SLC6A4 mRNA	21058326
D020111	Chlorodiphenyl (54% Chlorine)	[Chlorodiphenyl (54% Chlorine) co-treated with aroclor 1242 co-treated with aroclor 1248] results in decreased expression of SLC6A4 mRNA	29879404
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of SLC6A4	17035140
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of SLC6A4 mRNA	18835401
D004390	Chlorpyrifos	Chlorpyrifos results in increased expression of SLC6A4	17035140
D015283	Citalopram	Citalopram binds to and results in decreased activity of SLC6A4 protein	16272152
D015283	Citalopram	Citalopram inhibits the reaction [convulxin promotes the reaction [SLC6A4 protein binds to SYK protein]]	30592962
D015283	Citalopram	Citalopram inhibits the reaction [SLC6A4 protein promotes the reaction [Dopamine results in increased activity of TAAR1 protein]]	17234900
D015283	Citalopram	Citalopram inhibits the reaction [SLC6A4 protein promotes the reaction [Methamphetamine results in increased activity of TAAR1 protein]]	17234900
D015283	Citalopram	Citalopram inhibits the reaction [SLC6A4 protein promotes the reaction [Octopamine results in increased activity of TAAR1 protein]]	17234900
D015283	Citalopram	Citalopram inhibits the reaction [SLC6A4 protein promotes the reaction [tryptamine results in increased activity of TAAR1 protein]]	17234900
D015283	Citalopram	Citalopram inhibits the reaction [SLC6A4 protein promotes the reaction [Tyramine results in increased activity of TAAR1 protein]]	17234900
D015283	Citalopram	SLC6A4 polymorphism inhibits the reaction [Citalopram affects the secretion of PRL protein]	17000009
D015283	Citalopram	SLC6A4 promoter polymorphism affects the susceptibility to Citalopram	14624186
D015283	Citalopram	[Estradiol co-treated with Progesterone] affects the reaction [SLC6A4 promoter polymorphism affects the reaction [Citalopram results in increased expression of PRL protein]]	21843009
D015283	Citalopram	SLC6A4 promoter affects the reaction [Citalopram results in increased expression of PRL protein]	21843009
D015283	Citalopram	SLC6A4 promoter polymorphism affects the reaction [Citalopram results in increased expression of PRL protein]	21843009
D015283	Citalopram	Citalopram binds to SLC6A4 protein	12672245
D015283	Citalopram	Citalopram results in decreased activity of SLC6A4 protein	14624186
D002997	Clomipramine	Clomipramine binds to and results in decreased activity of SLC6A4 protein	16272152
D002997	Clomipramine	SLC6A4 polymorphism inhibits the reaction [Clomipramine affects the secretion of PRL protein]	17000009
D003024	Clozapine	[SLC6A4 gene polymorphism results in decreased uptake of Serotonin] which results in decreased susceptibility to Clozapine	20452607
D003024	Clozapine	SLC6A4 protein affects the susceptibility to Clozapine	20452607
D003024	Clozapine	Clozapine results in increased expression of SLC6A4	12007678
D003042	Cocaine	Cocaine binds to and results in decreased activity of SLC6A4 protein	16272152
D003042	Cocaine	Cocaine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D003042	Cocaine	Cocaine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D003042	Cocaine	Cocaine results in decreased activity of SLC6A4 protein	18321529
D003042	Cocaine	Cocaine results in increased expression of SLC6A4 protein	11207425
D003042	Cocaine	SLC6A4 mutant form affects the susceptibility to Cocaine	11320258
D003042	Cocaine	Cocaine affects the expression of SLC6A4 mRNA	11072100
D003042	Cocaine	SLC6A4 gene mutant form results in increased susceptibility to Cocaine	20459657
D003042	Cocaine	SLC6A4 results in decreased susceptibility to Cocaine	18581099
C028890	convulxin	Citalopram inhibits the reaction [convulxin promotes the reaction [SLC6A4 protein binds to SYK protein]]	30592962
C028890	convulxin	convulxin promotes the reaction [SLC6A4 protein binds to SYK protein]	30592962
D003300	Copper	Copper deficiency results in increased expression of SLC6A4 mRNA	26033743
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of SLC6A4 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of SLC6A4 mRNA	25562108
C532102	D-161 compound	D-161 compound results in decreased activity of SLC6A4 protein	18561912
D003907	Dexamethasone	Dexamethasone results in increased expression of SLC6A4 protein	16160705
D020372	Dexfenfluramine	Dexfenfluramine affects the activity of SLC6A4 protein	18506000
D003913	Dextroamphetamine	SLC6A4 gene polymorphism affects the susceptibility to Dextroamphetamine	16966188
D003913	Dextroamphetamine	Dextroamphetamine inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	24841869
D003915	Dextromethorphan	Dextromethorphan inhibits the reaction [Excitatory Amino Acid Agonists results in decreased expression of SLC6A4 protein]	31153898
D003976	Diazinon	Diazinon results in decreased expression of SLC6A4 mRNA	18835401
D003976	Diazinon	Diazinon results in decreased expression of SLC6A4 protein	17035140; 26297601;
D003976	Diazinon	Diazinon results in increased expression of SLC6A4 protein	17035140
D004026	Dieldrin	Dieldrin results in decreased expression of SLC6A4 mRNA	18835401
D004041	Dietary Fats	Dietary Fats inhibits the reaction [1,2-Dimethylhydrazine results in increased expression of SLC6A4 mRNA]	22750881
D019422	Dietary Sucrose	Dietary Sucrose results in increased expression of SLC6A4 mRNA	26033743
D004298	Dopamine	Citalopram inhibits the reaction [SLC6A4 protein promotes the reaction [Dopamine results in increased activity of TAAR1 protein]]	17234900
D004298	Dopamine	indatraline inhibits the reaction [SLC6A4 protein promotes the reaction [Dopamine results in increased activity of TAAR1 protein]]	17234900
D004298	Dopamine	SLC6A4 protein promotes the reaction [Dopamine results in increased activity of TAAR1 protein]	17234900
D004958	Estradiol	[Estradiol co-treated with Progesterone] affects the reaction [SLC6A4 promoter polymorphism affects the reaction [Citalopram results in increased expression of PRL protein]]	21843009
D004958	Estradiol	[Estradiol co-treated with Fluoxetine] results in increased expression of SLC6A4 mRNA	21382399
D004958	Estradiol	[Estradiol co-treated with Sertraline] affects the expression of SLC6A4 mRNA	18650020
D004958	Estradiol	Estradiol promotes the reaction [Sertraline results in increased expression of SLC6A4 mRNA]	18650020
D004958	Estradiol	Estradiol results in increased expression of SLC6A4 mRNA	18650020; 21382399;
C074283	estradiol 3-benzoate	estradiol 3-benzoate results in increased expression of SLC6A4 protein	17398000
C074283	estradiol 3-benzoate	Raloxifene Hydrochloride inhibits the reaction [estradiol 3-benzoate results in increased expression of SLC6A4 protein]	17398000
D000431	Ethanol	Ethanol promotes the reaction [mephedrone results in decreased expression of SLC6A4 protein]	26747301
D000431	Ethanol	Ethanol results in decreased expression of SLC6A4 protein	26747301
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of SLC6A4 mRNA	16079270
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of SLC6A4 mRNA	23129252
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of SLC6A4 gene	16495775
D018690	Excitatory Amino Acid Agonists	Dextromethorphan inhibits the reaction [Excitatory Amino Acid Agonists results in decreased expression of SLC6A4 protein]	31153898
D018690	Excitatory Amino Acid Agonists	Excitatory Amino Acid Agonists results in decreased expression of SLC6A4 protein	31153898
D017313	Fenretinide	Fenretinide results in decreased expression of SLC6A4 mRNA	28973697
D005456	Fluorescent Dyes	1-phenyl-2-(1-pyrrolidinyl)-1-pentanone inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	2-(3-methoxyphenyl)-2-(ethylamino)cyclohexanone inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	2-(4-bromo-2,5-dimethoxyphenyl)ethylamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	2-(4-bromo-2,5-dimethoxyphenyl)-N-((2-methoxyphenyl)methyl)ethanamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	2-(4-iodo-2,5-dimethoxyphenyl)-N-(2-methoxybenzyl)ethanamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	4-fluoroamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	4-methoxymethamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	5-(2-aminopropyl)benzofuran inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	Amphetamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	Cocaine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	Fluoxetine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	N-Methyl-3,4-methylenedioxyamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005456	Fluorescent Dyes	SLC6A4 protein results in increased import of Fluorescent Dyes	28506818
D005473	Fluoxetine	Fluoxetine affects the expression of SLC6A4 protein	16951736
D005473	Fluoxetine	Fluoxetine binds to and results in decreased activity of SLC6A4 protein	16272152
D005473	Fluoxetine	Fluoxetine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D005473	Fluoxetine	Fluoxetine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D005473	Fluoxetine	Fluoxetine results in decreased localization of SLC6A4 protein	17289086
D005473	Fluoxetine	SLC6A4 affects the susceptibility to Fluoxetine	14573314
D005473	Fluoxetine	SLC6A4 gene polymorphism results in decreased susceptibility to Fluoxetine	14604448
D005473	Fluoxetine	SLC6A4 gene polymorphism results in increased susceptibility to Fluoxetine	20010449
D005473	Fluoxetine	SLC6A4 protein affects the susceptibility to Fluoxetine	20010449
D005473	Fluoxetine	SLC6A4 protein results in increased susceptibility to Fluoxetine	14604448
D005473	Fluoxetine	Fluoxetine results in decreased activity of SLC6A4 protein	19616025
D005473	Fluoxetine	Fluoxetine results in increased expression of SLC6A4 mRNA	21083617
D005473	Fluoxetine	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in decreased expression of SLC6A4 mRNA	22701549
D005473	Fluoxetine	[Estradiol co-treated with Fluoxetine] results in increased expression of SLC6A4 mRNA	21382399
D005473	Fluoxetine	Fluoxetine results in decreased activity of SLC6A4 protein	18561912
D005473	Fluoxetine	Fluoxetine results in decreased expression of SLC6A4 mRNA	15936043; 16982082; 17950541; 21554931; 21740920; 8914125;
D005473	Fluoxetine	[Fluoxetine results in decreased expression of SLC6A4 mRNA] which results in decreased abundance of Serotonin	16982082
D005473	Fluoxetine	Fluoxetine results in decreased expression of SLC6A4 protein	18496518
D005473	Fluoxetine	Org 34850 promotes the reaction [Fluoxetine results in decreased expression of SLC6A4 protein]	18496518
D005473	Fluoxetine	Fluoxetine results in decreased activity of SLC6A4 protein	25766885
D005473	Fluoxetine	Fluoxetine results in decreased expression of SLC6A4	15514160
D005492	Folic Acid	Folic Acid results in decreased expression of SLC6A4 mRNA	25006883
D005620	Freund's Adjuvant	[TG protein co-treated with incomplete Freund's adjuvant co-treated with Freund's Adjuvant] results in increased expression of SLC6A4 mRNA	30373627
C000593030	GSK-J4	GSK-J4 results in increased expression of SLC6A4 mRNA	29301935
D006220	Haloperidol	Haloperidol results in increased expression of SLC6A4	12007678
C000625835	HFPO2 compound	HFPO2 compound results in increased expression of SLC6A4 mRNA	27553808
C000625836	HFPO4 compound	HFPO4 compound results in increased expression of SLC6A4 mRNA	27553808
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of SLC6A4 mRNA	20044591
D007099	Imipramine	Imipramine results in decreased activity of SLC6A4 protein	18561912
C114843	incomplete Freund's adjuvant	[TG protein co-treated with incomplete Freund's adjuvant co-treated with Freund's Adjuvant] results in increased expression of SLC6A4 mRNA	30373627
C418119	indatraline	indatraline inhibits the reaction [SLC6A4 protein promotes the reaction [Dopamine results in increased activity of TAAR1 protein]]	17234900
C418119	indatraline	indatraline inhibits the reaction [SLC6A4 protein promotes the reaction [Methamphetamine results in increased activity of TAAR1 protein]]	17234900
C418119	indatraline	indatraline inhibits the reaction [SLC6A4 protein promotes the reaction [Octopamine results in increased activity of TAAR1 protein]]	17234900
C418119	indatraline	indatraline inhibits the reaction [SLC6A4 protein promotes the reaction [tryptamine results in increased activity of TAAR1 protein]]	17234900
C418119	indatraline	indatraline inhibits the reaction [SLC6A4 protein promotes the reaction [Tyramine results in increased activity of TAAR1 protein]]	17234900
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of SLC6A4 mRNA	25613284
D007650	Ketanserin	Ketanserin binds to SLC6A4 protein	21871486
D007650	Ketanserin	methamidophos inhibits the reaction [Ketanserin binds to SLC6A4 protein]	21871486
D019259	Lamivudine	[Lamivudine co-treated with IFNA2 protein] results in increased expression of SLC6A4 mRNA	16476009
D019259	Lamivudine	Lamivudine promotes the reaction [SLC6A4 protein results in increased uptake of Serotonin]	16476009
D019259	Lamivudine	Lamivudine results in increased expression of and results in increased activity of SLC6A4 protein	16476009
D019259	Lamivudine	Lamivudine results in increased expression of SLC6A4 mRNA	16476009
D007980	Levodopa	[Oxidopamine co-treated with Levodopa] results in increased expression of SLC6A4 protein	20882603
C105748	lubazodone hydrochloride	lubazodone hydrochloride binds to SLC6A4 protein	21823597
C417213	LY 367265	LY 367265 binds to SLC6A4 protein	21823597
C018091	maduramicin	maduramicin results in decreased expression of SLC6A4 mRNA	29128925
D008454	Mazindol	Mazindol binds to and results in decreased activity of SLC6A4 protein	16272152
C548233	mephedrone	Ethanol promotes the reaction [mephedrone results in decreased expression of SLC6A4 protein]	26747301
C548233	mephedrone	mephedrone results in decreased expression of SLC6A4 protein	26747301
C548233	mephedrone	mephedrone results in decreased expression of SLC6A4 protein	25817894
D008627	Mercuric Chloride	Mercuric Chloride results in decreased expression of SLC6A4 mRNA	16507785
D008628	Mercury	SLC6A4 promoter polymorphism affects the susceptibility to Mercury	20526950
C014655	methamidophos	methamidophos inhibits the reaction [Ketanserin binds to SLC6A4 protein]	21871486
D008694	Methamphetamine	Citalopram inhibits the reaction [SLC6A4 protein promotes the reaction [Methamphetamine results in increased activity of TAAR1 protein]]	17234900
D008694	Methamphetamine	indatraline inhibits the reaction [SLC6A4 protein promotes the reaction [Methamphetamine results in increased activity of TAAR1 protein]]	17234900
D008694	Methamphetamine	Methamphetamine results in decreased expression of SLC6A4 protein	16389202; 18841348;
D008694	Methamphetamine	SLC6A4 protein promotes the reaction [Methamphetamine results in increased activity of TAAR1 protein]	17234900
D008694	Methamphetamine	IL6 protein affects the reaction [Methamphetamine affects the expression of SLC6A4 protein]	11093760
D008694	Methamphetamine	Methamphetamine affects the expression of SLC6A4 protein	11093760; 9369336;
D008694	Methamphetamine	SLC6A4 mRNA affects the susceptibility to Methamphetamine	19689456
D008694	Methamphetamine	TRP53 protein affects the reaction [Methamphetamine affects the expression of SLC6A4 protein]	9369336
D008694	Methamphetamine	Methamphetamine results in decreased expression of SLC6A4 protein	15900317
D008694	Methamphetamine	SLC6A4 protein results in increased susceptibility to Methamphetamine	10684896
D008694	Methamphetamine	Methamphetamine results in decreased activity of SLC6A4 protein	20722968
D008985	Monensin	Monensin promotes the reaction [para-methyl-4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]]	29908239
D016686	Monocrotaline	Monocrotaline results in increased expression of SLC6A4 mRNA	17042913
D016686	Monocrotaline	Sertraline inhibits the reaction [Monocrotaline results in increased expression of SLC6A4 mRNA]	17042913
D016686	Monocrotaline	Atorvastatin inhibits the reaction [Monocrotaline results in increased expression of SLC6A4 protein]	17575010
D016686	Monocrotaline	Monocrotaline results in increased expression of SLC6A4 protein	17575010
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of SLC6A4 mRNA	25554681
C051752	nefazodone	nefazodone binds to SLC6A4 protein	21823597
D009532	Nickel	Nickel results in decreased expression of SLC6A4 mRNA	18835401
C028007	nickel monoxide	nickel monoxide results in decreased expression of SLC6A4 mRNA	19167457
C011386	nisoxetine	nisoxetine binds to and results in decreased activity of SLC6A4 protein	16272152
C007350	nitrofen	nitrofen results in increased expression of SLC6A4 protein	24888825; 25078423;
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine affects the expression of SLC6A4 protein	20483717
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine affects the reaction [N,N-dimethyl-2-(2-amino-4-cyanophenylthio)benzylamine binds to SLC6A4 protein]	20483717
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine binds to SLC6A4 protein	16272152
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Biogenic Monoamines analog]	28506818
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine inhibits the reaction [SLC6A4 protein results in increased import of Fluorescent Dyes]	28506818
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	29908239; 30776375;
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased activity of SLC6A4 protein	30776375
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SLC6A4 protein	18661256
D018817	N-Methyl-3,4-methylenedioxyamphetamine	2H-Benzo(a)quinolizin-2-ol, 2-Ethyl-1,3,4,6,7,11b-hexahydro-3-isobutyl-9,10-dimethoxy- inhibits the reaction [N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SLC6A4 protein]	25370842
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SLC6A4 mRNA	16054768; 16489401;
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SLC6A4 protein	16054768; 25370842;
D018817	N-Methyl-3,4-methylenedioxyamphetamine	SLC6A4 gene mutant form results in decreased susceptibility to N-Methyl-3,4-methylenedioxyamphetamine	24595820
D018817	N-Methyl-3,4-methylenedioxyamphetamine	3-methyladenine inhibits the reaction [N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SLC6A4 protein]	26610922
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SLC6A4 protein	26610922
C420885	N,N-dimethyl-2-(2-amino-4-cyanophenylthio)benzylamine	N-Methyl-3,4-methylenedioxyamphetamine affects the reaction [N,N-dimethyl-2-(2-amino-4-cyanophenylthio)benzylamine binds to SLC6A4 protein]	20483717
C420885	N,N-dimethyl-2-(2-amino-4-cyanophenylthio)benzylamine	N,N-dimethyl-2-(2-amino-4-cyanophenylthio)benzylamine binds to SLC6A4 protein	20483717
C475911	N,N-dimethyl-2-(2-amino-4-fluorophenylthio)benzylamine	N,N-dimethyl-2-(2-amino-4-fluorophenylthio)benzylamine binds to SLC6A4 protein	31153898
D009627	Nomifensine	Nomifensine binds to and results in decreased activity of SLC6A4 protein	16272152
D009638	Norepinephrine	SLC6A4 protein promotes the reaction [Norepinephrine results in increased activity of TAAR1 protein]	17234900
D009661	Nortriptyline	SLC6A4 gene polymorphism results in decreased susceptibility to Nortriptyline	14604448
D009661	Nortriptyline	SLC6A4 polymorphism affects the susceptibility to Nortriptyline	21658141
D009661	Nortriptyline	SLC6A4 promoter polymorphism affects the susceptibility to Nortriptyline	17018806
D009661	Nortriptyline	SLC6A4 protein results in increased susceptibility to Nortriptyline	14604448
D009655	Octopamine	Citalopram inhibits the reaction [SLC6A4 protein promotes the reaction [Octopamine results in increased activity of TAAR1 protein]]	17234900
D009655	Octopamine	indatraline inhibits the reaction [SLC6A4 protein promotes the reaction [Octopamine results in increased activity of TAAR1 protein]]	17234900
D009655	Octopamine	SLC6A4 protein promotes the reaction [Octopamine results in increased activity of TAAR1 protein]	17234900
C526063	Org 34850	Org 34850 promotes the reaction [Fluoxetine results in decreased expression of SLC6A4 protein]	18496518
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of SLC6A4 mRNA	25729387
D016627	Oxidopamine	[Oxidopamine co-treated with Levodopa] results in increased expression of SLC6A4 protein	20882603
D010126	Ozone	Ozone affects the expression of SLC6A4 protein	23570994
C000598109	para-methyl-4-methylaminorex	Monensin promotes the reaction [para-methyl-4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]]	29908239
C000598109	para-methyl-4-methylaminorex	para-methyl-4-methylaminorex binds to SLC6A4 protein	29908239
C000598109	para-methyl-4-methylaminorex	para-methyl-4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	29908239
C000598109	para-methyl-4-methylaminorex	para-methyl-4-methylaminorex results in decreased activity of SLC6A4 protein	30776375
C000598109	para-methyl-4-methylaminorex	SLC6A4 protein results in increased uptake of para-methyl-4-methylaminorex	30776375
C000598109	para-methyl-4-methylaminorex	para-methyl-4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	24841869
D010278	Parathion	Parathion affects the expression of SLC6A4 protein	18773955
D010278	Parathion	Parathion results in decreased expression of SLC6A4 protein	19616088
D010278	Parathion	Parathion results in increased expression of SLC6A4 protein	19616088; 20015457;
D017374	Paroxetine	Paroxetine binds to and results in decreased activity of SLC6A4 protein	16272152
D017374	Paroxetine	Paroxetine results in decreased expression of SLC6A4 mRNA	16055263
D017374	Paroxetine	Paroxetine affects the expression of SLC6A4 mRNA	10575045
D017374	Paroxetine	Paroxetine results in decreased expression of SLC6A4 mRNA	10575045
D010133	p-Chloroamphetamine	p-Chloroamphetamine results in decreased expression of SLC6A4 mRNA	16054768
D010133	p-Chloroamphetamine	p-Chloroamphetamine results in decreased expression of SLC6A4 protein	16054768
D010133	p-Chloroamphetamine	SLC6A4 protein results in increased susceptibility to p-Chloroamphetamine	10684896
C417083	peginterferon alfa-2b	SLC6A4 promoter polymorphism promotes the reaction [IL6 promoter SNP results in decreased susceptibility to peginterferon alfa-2b]	18458677
C417083	peginterferon alfa-2b	SLC6A4 promoter polymorphism results in decreased susceptibility to peginterferon alfa-2b	18458677
C029261	phenethylamine	SLC6A4 protein promotes the reaction [phenethylamine results in increased activity of TAAR1 protein]	17234900
D010879	Piperazines	Piperazines analog binds to SLC6A4 protein	11931612
C006253	pirinixic acid	pirinixic acid results in decreased expression of SLC6A4 mRNA	17426115
C006253	pirinixic acid	pirinixic acid results in increased expression of SLC6A4 mRNA	18301758
C006253	pirinixic acid	pirinixic acid results in decreased expression of SLC6A4 mRNA	19162173
D011374	Progesterone	[Estradiol co-treated with Progesterone] affects the reaction [SLC6A4 promoter polymorphism affects the reaction [Citalopram results in increased expression of PRL protein]]	21843009
D011738	Pyrilamine	Pyrilamine analog binds to SLC6A4 protein	11931612
D011794	Quercetin	Quercetin results in decreased expression of SLC6A4 mRNA	21632981
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of SLC6A4 mRNA	16079270
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride inhibits the reaction [estradiol 3-benzoate results in increased expression of SLC6A4 protein]	17398000
D012110	Reserpine	Reserpine results in decreased expression of SLC6A4 mRNA	10027743
D012254	Ribavirin	Ribavirin promotes the reaction [SLC6A4 protein results in increased uptake of Serotonin]	16476009
D012254	Ribavirin	Ribavirin results in increased expression of and results in increased activity of SLC6A4 protein	16476009
D012254	Ribavirin	Ribavirin results in increased expression of SLC6A4 mRNA	16476009
D012701	Serotonin	4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	30776375
D012701	Serotonin	Lamivudine promotes the reaction [SLC6A4 protein results in increased uptake of Serotonin]	16476009
D012701	Serotonin	Monensin promotes the reaction [para-methyl-4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]]	29908239
D012701	Serotonin	N-Methyl-3,4-methylenedioxyamphetamine inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	29908239; 30776375;
D012701	Serotonin	para-methyl-4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	29908239
D012701	Serotonin	Ribavirin promotes the reaction [SLC6A4 protein results in increased uptake of Serotonin]	16476009
D012701	Serotonin	Serotonin binds to SLC6A4 protein	16272152
D012701	Serotonin	SLC6A4 gene polymorphism affects the abundance of Serotonin	17203304
D012701	Serotonin	[SLC6A4 gene polymorphism results in decreased uptake of Serotonin] which results in decreased susceptibility to Clozapine	20452607
D012701	Serotonin	SLC6A4 protein promotes the reaction [Serotonin results in increased activity of TAAR1 protein]	17234900
D012701	Serotonin	SLC6A4 protein results in increased uptake of Serotonin	16476009; 20452607; 29908239; 30776375;
D012701	Serotonin	SLC6A4 protein affects the transport of Serotonin	11223167
D012701	Serotonin	Serotonin results in increased expression of SLC6A4 mRNA	21083617
D012701	Serotonin	SLC6A4 protein results in increased uptake of Serotonin	15972295
D012701	Serotonin	4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	24841869
D012701	Serotonin	Aminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	24841869
D012701	Serotonin	Dextroamphetamine inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	24841869
D012701	Serotonin	[Fluoxetine results in decreased expression of SLC6A4 mRNA] which results in decreased abundance of Serotonin	16982082
D012701	Serotonin	para-methyl-4-methylaminorex inhibits the reaction [SLC6A4 protein results in increased uptake of Serotonin]	24841869
D012701	Serotonin	SLC6A4 protein results in increased uptake of Serotonin	24841869
D012701	Serotonin	Serotonin binds to SLC6A4 protein	20204739
D017367	Serotonin Uptake Inhibitors	SLC6A4 intron polymorphism affects the susceptibility to Serotonin Uptake Inhibitors	17018806
D017367	Serotonin Uptake Inhibitors	SLC6A4 promoter affects the susceptibility to Serotonin Uptake Inhibitors	21843009
D017367	Serotonin Uptake Inhibitors	SLC6A4 promoter polymorphism affects the susceptibility to Serotonin Uptake Inhibitors	17018806
D017367	Serotonin Uptake Inhibitors	SLC6A4 promoter polymorphism results in decreased susceptibility to Serotonin Uptake Inhibitors	21843009
D017367	Serotonin Uptake Inhibitors	SLC6A4 protein results in increased susceptibility to Serotonin Uptake Inhibitors	21843009
D017367	Serotonin Uptake Inhibitors	[Sertraline results in decreased expression of SLC6A4 protein] which results in decreased metabolism of Serotonin Uptake Inhibitors	12151556
D020280	Sertraline	Sertraline inhibits the reaction [Monocrotaline results in increased expression of SLC6A4 mRNA]	17042913
D020280	Sertraline	SLC6A4 promoter polymorphism results in increased susceptibility to Sertraline	12955294
D020280	Sertraline	SLC6A4 protein affects the susceptibility to Sertraline	12955294
D020280	Sertraline	Sertraline results in decreased expression of SLC6A4 protein	18923402
D020280	Sertraline	[Estradiol co-treated with Sertraline] affects the expression of SLC6A4 mRNA	18650020
D020280	Sertraline	Estradiol promotes the reaction [Sertraline results in increased expression of SLC6A4 mRNA]	18650020
D020280	Sertraline	Sertraline results in decreased expression of SLC6A4 protein	12151556
D020280	Sertraline	[Sertraline results in decreased expression of SLC6A4 protein] which results in decreased metabolism of Serotonin Uptake Inhibitors	12151556
D020280	Sertraline	Sertraline results in increased expression of SLC6A4 mRNA	18650020
D019821	Simvastatin	Simvastatin results in increased activity of SLC6A4 protein	15740995
D013750	Tetrachloroethylene	Tetrachloroethylene results in increased expression of SLC6A4 mRNA	28973375
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of SLC6A4 mRNA	25613284
C050504	tianeptine	tianeptine binds to and results in decreased activity of SLC6A4 protein	16272152
C009495	titanium dioxide	titanium dioxide results in decreased expression of SLC6A4 mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of SLC6A4 mRNA	20133372
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of SLC6A4 mRNA	19969065
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of SLC6A4 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of SLC6A4 mRNA	25729387
C011559	tributyltin	tributyltin results in increased expression of SLC6A4 mRNA	29505797
D014260	Triclosan	Triclosan results in decreased expression of SLC6A4 mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of SLC6A4 mRNA	26179874
C030820	tryptamine	Citalopram inhibits the reaction [SLC6A4 protein promotes the reaction [tryptamine results in increased activity of TAAR1 protein]]	17234900
C030820	tryptamine	indatraline inhibits the reaction [SLC6A4 protein promotes the reaction [tryptamine results in increased activity of TAAR1 protein]]	17234900
C030820	tryptamine	SLC6A4 protein promotes the reaction [tryptamine results in increased activity of TAAR1 protein]	17234900
D014439	Tyramine	Citalopram inhibits the reaction [SLC6A4 protein promotes the reaction [Tyramine results in increased activity of TAAR1 protein]]	17234900
D014439	Tyramine	indatraline inhibits the reaction [SLC6A4 protein promotes the reaction [Tyramine results in increased activity of TAAR1 protein]]	17234900
D014439	Tyramine	SLC6A4 protein promotes the reaction [Tyramine results in increased activity of TAAR1 protein]	17234900
D014520	Urethane	Urethane results in decreased expression of SLC6A4 mRNA	28818685
D014640	Vancomycin	Vancomycin results in increased expression of SLC6A4 mRNA	18930951
D000069470	Venlafaxine Hydrochloride	SLC6A4 gene polymorphism affects the susceptibility to Venlafaxine Hydrochloride	17503984
D000069470	Venlafaxine Hydrochloride	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in decreased expression of SLC6A4 mRNA	22701549
D000078784	Vortioxetine	Vortioxetine binds to and results in decreased activity of SLC6A4 protein	21486038
D015032	Zinc	Zinc deficiency results in decreased expression of SLC6A4 mRNA	16140947
D015032	Zinc	Zinc deficiency results in increased expression of SLC6A4 mRNA	16413754
D015032	Zinc	Zinc inhibits the reaction [Zinc deficiency results in decreased expression of SLC6A4 mRNA]	16140947

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0965	Cell junction
KW-1003	Cell membrane
KW-1015	Disulfide bond
KW-0967	Endosome
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0479	Metal-binding
KW-0532	Neurotransmitter transport
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0915	Sodium
KW-0769	Symport
KW-0770	Synapse
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR000175	Na/ntran_symport
IPR013086	Na/ntran_symport_serotonin_N
IPR037272	SNS_sf

PROSITE

PROSITE ID	PROSITE Term
PS00610	NA_NEUROTRAN_SYMP_1
PS00754	NA_NEUROTRAN_SYMP_2
PS50267	NA_NEUROTRAN_SYMP_3

Pfam

Pfam ID	Pfam Term
PF03491	5HT_transport_N
PF00209	SNF

Gene: SLC6A4

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

Identified variants/mutations related to cleft phenotype

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