CleftGeneDB-Search

Gene: GABRB3

Basic information

Tag	Content
Uniprot ID	P28472; B7Z2W1; B7Z825; F5H3D2; H7BYV8; Q14352; Q96FM5;
Entrez ID	2562
Genbank protein ID	EAW57655.1; AAH10641.1; AAA52511.1; BAH13811.1; AAA52508.1; BAH11997.1; AAA52507.1;
Genbank nucleotide ID	NM_001191320.1; NM_001278631.1; NM_000814.5; NM_021912.4; NM_001191321.2;
Ensembl protein ID	ENSP00000439169; ENSP00000481004; ENSP00000489768; ENSP00000383049; ENSP00000486819; ENSP00000299267; ENSP00000308725;
Ensembl nucleotide ID	ENSG00000166206
Gene name	Gamma-aminobutyric acid receptor subunit beta-3
Gene symbol	GABRB3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	18452349; 11810291;
Functional description	Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:18514161, PubMed:22303015, PubMed:26950270, PubMed:22243422, PubMed:24909990). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta3/gamma2 receptor exhibits synaptogenic activity (PubMed:25489750). The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (PubMed:18281286). Plays an important role in somatosensation and in the production of antinociception (By similarity).
Sequence	MWGLAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI RLRPDFGGPP 60 VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS GIPLNLTLDN RVADQLWVPD 120 TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE 180 SYGYTTDDIE FYWRGGDKAV TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK 240 RNIGYFILQT YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI 300 PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK NDRSKSESNR 360 VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI QYRKQSMPRE GHGRFLGDRS 420 LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR WSRIVFPFTF SLFNLVYWLY YVN 473

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
4COF
5O8F
5OJM
6A96
6HUG
6HUJ
6HUK
6HUO
6HUP
6I53
4COF

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	GABRB3		A0A452FJH3		Capra hircus	Prediction	More>>
1:1 ortholog	GABRB3	2562	P28472	CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Gabrb3	14402	P63080	CPO	Mus musculus	Publication	More>>
1:1 ortholog	GABRB3	453265	A0A2I3THQ1		Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A4X1UB00		Sus scrofa	Prediction	More>>
1:1 ortholog	Gabrb3		A0A0G2K0J9		Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
GABRB3	c.89T>C; p.I300T (heterozygous)	WES	31319422

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs753024924	p.Gly3Asp	missense variant	-	NC_000015.10:g.26772955C>T	ExAC,gnomAD
rs1333693263	p.Leu4Phe	missense variant	-	NC_000015.10:g.26772953G>A	gnomAD
rs1315237922	p.Ala5Glu	missense variant	-	NC_000015.10:g.26772949G>T	gnomAD
rs1315237922	p.Ala5Val	missense variant	-	NC_000015.10:g.26772949G>A	gnomAD
rs765680963	p.Gly6Ala	missense variant	-	NC_000015.10:g.26772946C>G	ExAC,gnomAD
rs759931649	p.Gly7Arg	missense variant	-	NC_000015.10:g.26772944C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly7Ala	missense variant	-	NC_000015.10:g.26772943C>G	NCI-TCGA
rs777263662	p.Gly7Glu	missense variant	-	NC_000015.10:g.26772943C>T	ExAC,gnomAD
rs556238396	p.Leu9Ile	missense variant	-	NC_000015.10:g.26772938G>T	1000Genomes,ExAC,gnomAD
rs556238396	p.Leu9Phe	missense variant	-	NC_000015.10:g.26772938G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Phe10Val	missense variant	-	NC_000015.10:g.26772935A>C	NCI-TCGA
rs1158134414	p.Gly11Cys	missense variant	-	NC_000015.10:g.26772932C>A	gnomAD
rs1158134414	p.Gly11Ser	missense variant	-	NC_000015.10:g.26772932C>T	gnomAD
rs1451852360	p.Ile12Val	missense variant	-	NC_000015.10:g.26772929T>C	TOPMed,gnomAD
rs1370466943	p.Phe13Leu	missense variant	-	NC_000015.10:g.26772926A>G	gnomAD
rs868500530	p.Ser14Ter	stop gained	-	NC_000015.10:g.26772922G>T	gnomAD
rs868500530	p.Ser14Leu	missense variant	-	NC_000015.10:g.26772922G>A	gnomAD
VAR_082791	p.Ser15Phe	Missense	Epilepsy, childhood absence 5 (ECA5) [MIM:612269]	-	UniProt
rs1181620612	p.Pro16Gln	missense variant	-	NC_000015.10:g.26772916G>T	gnomAD
rs1242309134	p.Pro16Thr	missense variant	-	NC_000015.10:g.26772917G>T	gnomAD
rs1448726231	p.Ala25Ser	missense variant	-	NC_000015.10:g.26772890C>A	TOPMed,gnomAD
rs867679278	p.Gln26Lys	missense variant	-	NC_000015.10:g.26772887G>T	gnomAD
rs865875277	p.Ser27Ile	missense variant	-	NC_000015.10:g.26772883C>A	gnomAD
rs1212831525	p.Val28Leu	missense variant	-	NC_000015.10:g.26772771C>A	TOPMed,gnomAD
rs777797308	p.Val28Ala	missense variant	-	NC_000015.10:g.26772770A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp30Asn	missense variant	-	NC_000015.10:g.26772765C>T	NCI-TCGA
RCV000017577	p.Gly32Arg	missense variant	Epilepsy, childhood absence 5 (ECA5)	NC_000015.10:g.26772759C>T	ClinVar
rs71651682	p.Gly32Arg	missense variant	-	NC_000015.10:g.26772759C>T	gnomAD
rs748306024	p.Asn33Lys	missense variant	-	NC_000015.10:g.26772754G>T	ExAC,TOPMed,gnomAD
rs1468792368	p.Glu39Lys	missense variant	-	NC_000015.10:g.26772738C>T	gnomAD
rs1468792368	p.Glu39Lys	missense variant	-	NC_000015.10:g.26772738C>T	NCI-TCGA
NCI-TCGA novel	p.Thr40Met	missense variant	-	NC_000015.10:g.26772734G>A	NCI-TCGA
rs1178513934	p.Thr40Lys	missense variant	-	NC_000015.10:g.26772734G>T	TOPMed,gnomAD
rs1426593784	p.Thr40Ala	missense variant	-	NC_000015.10:g.26772735T>C	gnomAD
rs1334054422	p.Val41Met	missense variant	-	NC_000015.10:g.26772732C>T	TOPMed
rs1180162727	p.Asp42Gly	missense variant	-	NC_000015.10:g.26772728T>C	gnomAD
rs780661570	p.Lys43Arg	missense variant	-	NC_000015.10:g.26772725T>C	ExAC,gnomAD
rs1057520112	p.Lys46Gln	missense variant	-	NC_000015.10:g.26772717T>G	-
rs1203622090	p.Lys46Thr	missense variant	-	NC_000015.10:g.26772716T>G	gnomAD
RCV000428980	p.Lys46Gln	missense variant	-	NC_000015.10:g.26772717T>G	ClinVar
rs1321425602	p.Gly47Ala	missense variant	-	NC_000015.10:g.26772713C>G	gnomAD
NCI-TCGA novel	p.Arg51His	missense variant	-	NC_000015.10:g.26772701C>T	NCI-TCGA
COSM3690337	p.Arg51Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26772702G>A	NCI-TCGA Cosmic
rs537830865	p.Asp55Asn	missense variant	-	NC_000015.10:g.26772690C>T	NCI-TCGA
rs537830865	p.Asp55Asn	missense variant	-	NC_000015.10:g.26772690C>T	1000Genomes
rs1555383878	p.Pro59Ser	missense variant	-	NC_000015.10:g.26772467G>A	-
RCV000525350	p.Pro59Ser	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26772467G>A	ClinVar
COSM1372179	p.Pro60Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26772463G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val61Ile	missense variant	-	NC_000015.10:g.26772461C>T	NCI-TCGA
NCI-TCGA novel	p.Val63Leu	missense variant	-	NC_000015.10:g.26772455C>A	NCI-TCGA
rs1360593791	p.Asn66Ser	missense variant	-	NC_000015.10:g.26772445T>C	gnomAD
NCI-TCGA novel	p.Asp68Asn	missense variant	-	NC_000015.10:g.26772440C>T	NCI-TCGA
rs1406390237	p.Ala70Ser	missense variant	-	NC_000015.10:g.26772434C>A	gnomAD
NCI-TCGA novel	p.Ser71Ile	missense variant	-	NC_000015.10:g.26772430C>A	NCI-TCGA
rs1469460053	p.Ser71Asn	missense variant	-	NC_000015.10:g.26772430C>T	TOPMed,gnomAD
rs1302144860	p.Ile72Ser	missense variant	-	NC_000015.10:g.26772427A>C	TOPMed
rs768859258	p.Asp73His	missense variant	-	NC_000015.10:g.26772425C>G	TOPMed,gnomAD
RCV000465465	p.Asp73His	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26772425C>G	ClinVar
rs1456675163	p.Met74Val	missense variant	-	NC_000015.10:g.26772422T>C	gnomAD
COSM1587794	p.Glu77Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26772413C>T	NCI-TCGA Cosmic
rs1064794797	p.Met80Arg	missense variant	-	NC_000015.10:g.26772403A>C	-
rs1064794797	p.Met80Thr	missense variant	-	NC_000015.10:g.26772403A>G	-
rs72708067	p.Met80Val	missense variant	-	NC_000015.10:g.26772404T>C	1000Genomes,gnomAD
RCV000822033	p.Met80Thr	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26772403A>G	ClinVar
RCV000677391	p.Met80Arg	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26772403A>C	ClinVar
NCI-TCGA novel	p.Asp81Asn	missense variant	-	NC_000015.10:g.26621534C>T	NCI-TCGA
COSM1587796	p.Asp81Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621534C>A	NCI-TCGA Cosmic
rs1192355073	p.Thr83Ile	missense variant	-	NC_000015.10:g.26621527G>A	gnomAD
NCI-TCGA novel	p.Thr85SerPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.26621521_26621522insGTGTTGAATATCTCAC	NCI-TCGA
rs1199699671	p.Gln90Ter	stop gained	-	NC_000015.10:g.26621507G>A	gnomAD
rs1423283107	p.Tyr91His	missense variant	-	NC_000015.10:g.26621504A>G	TOPMed
NCI-TCGA novel	p.Trp92Leu	missense variant	-	NC_000015.10:g.26621500C>A	NCI-TCGA
NCI-TCGA novel	p.Trp92Cys	missense variant	-	NC_000015.10:g.26621499C>G	NCI-TCGA
NCI-TCGA novel	p.Asp94Tyr	missense variant	-	NC_000015.10:g.26621495C>A	NCI-TCGA
NCI-TCGA novel	p.Leu97Phe	missense variant	-	NC_000015.10:g.26621486G>A	NCI-TCGA
rs756369937	p.Ala98Thr	missense variant	-	NC_000015.10:g.26621483C>T	ExAC,TOPMed,gnomAD
RCV000646108	p.Ala98Thr	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26621483C>T	ClinVar
RCV000763953	p.Ala98Thr	missense variant	Epilepsy, childhood absence 5 (ECA5)	NC_000015.10:g.26621483C>T	ClinVar
RCV000697686	p.Tyr99Cys	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26621479T>C	ClinVar
NCI-TCGA novel	p.Ser100Phe	missense variant	-	NC_000015.10:g.26621476G>A	NCI-TCGA
rs1257480466	p.Ser100Thr	missense variant	-	NC_000015.10:g.26621477A>T	gnomAD
rs267604145	p.Pro103Ser	missense variant	-	NC_000015.10:g.26621468G>A	TOPMed
COSM6032100	p.Pro103Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621468G>T	NCI-TCGA Cosmic
COSM4053766	p.Pro103His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621467G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu104Val	missense variant	-	NC_000015.10:g.26621465G>C	NCI-TCGA
NCI-TCGA novel	p.Asn105Thr	missense variant	-	NC_000015.10:g.26621461T>G	NCI-TCGA
rs1347499222	p.Thr107Met	missense variant	-	NC_000015.10:g.26621455G>A	gnomAD
COSM1323256	p.Asp109Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621450C>T	NCI-TCGA Cosmic
rs751329477	p.Asn110Ser	missense variant	-	NC_000015.10:g.26621446T>C	ExAC,gnomAD
rs777756010	p.Arg111Gln	missense variant	-	NC_000015.10:g.26621443C>T	ExAC,gnomAD
rs942355738	p.Arg111Ter	stop gained	-	NC_000015.10:g.26621444G>A	-
rs1057524381	p.Val112Glu	missense variant	-	NC_000015.10:g.26621440A>T	-
RCV000434227	p.Val112Glu	missense variant	-	NC_000015.10:g.26621440A>T	ClinVar
COSM1134009	p.Asp114Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621435C>T	NCI-TCGA Cosmic
rs1555371873	p.Leu116Val	missense variant	-	NC_000015.10:g.26621429G>C	-
RCV000658707	p.Leu116Val	missense variant	-	NC_000015.10:g.26621429G>C	ClinVar
COSM1147503	p.Trp117Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621425C>A	NCI-TCGA Cosmic
rs1281101862	p.Val118Leu	missense variant	-	NC_000015.10:g.26621423C>G	TOPMed
COSM3500231	p.Pro119Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621420G>A	NCI-TCGA Cosmic
rs886037938	p.Asp120Asn	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26621417C>T	UniProt,dbSNP
VAR_077076	p.Asp120Asn	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26621417C>T	UniProt
rs886037938	p.Asp120Asn	missense variant	-	NC_000015.10:g.26621417C>T	-
RCV000240945	p.Asp120Asn	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26621417C>T	ClinVar
NCI-TCGA novel	p.Thr121Ile	missense variant	-	NC_000015.10:g.26621413G>A	NCI-TCGA
NCI-TCGA novel	p.Phe123Leu	missense variant	-	NC_000015.10:g.26621406G>T	NCI-TCGA
rs1057519550	p.Leu124Phe	missense variant	-	NC_000015.10:g.26621403T>G	-
RCV000416972	p.Leu124Phe	missense variant	-	NC_000015.10:g.26621403T>G	ClinVar
NCI-TCGA novel	p.Asp126Tyr	missense variant	-	NC_000015.10:g.26621399C>A	NCI-TCGA
rs1057519201	p.Lys127Arg	missense variant	-	NC_000015.10:g.26621395T>C	-
RCV000416050	p.Lys127Arg	missense variant	-	NC_000015.10:g.26621395T>C	ClinVar
NCI-TCGA novel	p.Lys128Met	missense variant	-	NC_000015.10:g.26621392T>A	NCI-TCGA
NCI-TCGA novel	p.Ser129ValPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.26621391_26621392insT	NCI-TCGA
NCI-TCGA novel	p.Val131Leu	missense variant	-	NC_000015.10:g.26621384C>A	NCI-TCGA
rs766542639	p.Val131Met	missense variant	-	NC_000015.10:g.26621384C>T	ExAC,gnomAD
NCI-TCGA novel	p.His132AlaPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.26621382_26621383insA	NCI-TCGA
COSM272707	p.His132Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621380T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly133Ter	stop gained	-	NC_000015.10:g.26621378C>A	NCI-TCGA
rs773544664	p.Val136Leu	missense variant	-	NC_000015.10:g.26621369C>A	ExAC,gnomAD
rs773544664	p.Val136Met	missense variant	-	NC_000015.10:g.26621369C>T	ExAC,gnomAD
VAR_078619	p.Asn138insAsnHis	inframe_insertion	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]	-	UniProt
rs1197311612	p.Arg139His	missense variant	-	NC_000015.10:g.26621359C>T	gnomAD
rs767913731	p.Arg139Cys	missense variant	-	NC_000015.10:g.26621360G>A	ExAC,gnomAD
COSM1147499	p.Arg139Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621359C>A	NCI-TCGA Cosmic
rs1555371848	p.Met140Val	missense variant	-	NC_000015.10:g.26621357T>C	-
RCV000555655	p.Met140Val	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26621357T>C	ClinVar
rs1218862447	p.Arg142His	missense variant	-	NC_000015.10:g.26621350C>T	gnomAD
COSM3886800	p.Leu143Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621348G>A	NCI-TCGA Cosmic
rs1325124119	p.Pro145Arg	missense variant	-	NC_000015.10:g.26621341G>C	TOPMed
COSM3500228	p.Pro145Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621342G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp146GluPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.26621337_26621338insTC	NCI-TCGA
NCI-TCGA novel	p.Asp146Asn	missense variant	-	NC_000015.10:g.26621339C>T	NCI-TCGA
rs1197280536	p.Val149Leu	missense variant	-	NC_000015.10:g.26621330C>A	TOPMed
NCI-TCGA novel	p.Leu153Phe	missense variant	-	NC_000015.10:g.26621318G>A	NCI-TCGA
VAR_077077	p.Thr157Met	Missense	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]	-	UniProt
NCI-TCGA novel	p.Ala160Val	missense variant	-	NC_000015.10:g.26583397G>A	NCI-TCGA
RCV000521015	p.Met162Thr	missense variant	-	NC_000015.10:g.26583391A>G	ClinVar
rs1555368636	p.Met162Thr	missense variant	-	NC_000015.10:g.26583391A>G	-
rs1060502666	p.Met163Val	missense variant	-	NC_000015.10:g.26583389T>C	-
RCV000461344	p.Met163Val	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26583389T>C	ClinVar
RCV000624061	p.Met163Val	missense variant	Inborn genetic diseases	NC_000015.10:g.26583389T>C	ClinVar
COSM3401650	p.Leu165Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26583383G>A	NCI-TCGA Cosmic
rs754851264	p.Arg166Ser	missense variant	-	NC_000015.10:g.26583378C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg167Lys	missense variant	-	NC_000015.10:g.26583376C>T	NCI-TCGA
rs1060502665	p.Tyr168Ter	stop gained	-	NC_000015.10:g.26583372G>T	-
RCV000474078	p.Tyr168Ter	nonsense	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26583372G>T	ClinVar
rs1555368630	p.Pro169Leu	missense variant	-	NC_000015.10:g.26583370G>A	-
RCV000646103	p.Pro169Leu	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26583370G>A	ClinVar
rs1555368626	p.Leu170Arg	missense variant	-	NC_000015.10:g.26583367A>C	-
COSM4686131	p.Leu170TrpPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26583368G>-	NCI-TCGA Cosmic
RCV000522263	p.Leu170Arg	missense variant	-	NC_000015.10:g.26583367A>C	ClinVar
NCI-TCGA novel	p.Asp171Asn	missense variant	-	NC_000015.10:g.26583365C>T	NCI-TCGA
NCI-TCGA novel	p.Gln173His	missense variant	-	NC_000015.10:g.26583357C>A	NCI-TCGA
NCI-TCGA novel	p.Gln173Lys	missense variant	-	NC_000015.10:g.26583359G>T	NCI-TCGA
rs17850679	p.Gln173Leu	missense variant	-	NC_000015.10:g.26583358T>A	UniProt,dbSNP
VAR_047958	p.Gln173Leu	missense variant	-	NC_000015.10:g.26583358T>A	UniProt
rs17850679	p.Gln173Leu	missense variant	-	NC_000015.10:g.26583358T>A	-
COSM4826130	p.Leu177Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26583347G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu178Asp	missense variant	-	NC_000015.10:g.26583342T>G	NCI-TCGA
COSM3500225	p.Glu178Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26583344C>T	NCI-TCGA Cosmic
rs886037939	p.Tyr182Phe	missense variant	-	NC_000015.10:g.26580456T>A	-
rs886037939	p.Tyr182Phe	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26580456T>A	UniProt,dbSNP
VAR_077078	p.Tyr182Phe	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26580456T>A	UniProt
RCV000240882	p.Tyr182Phe	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26580456T>A	ClinVar
COSM1587798	p.Gly183Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580453C>T	NCI-TCGA Cosmic
rs1131691481	p.Thr185Ile	missense variant	-	NC_000015.10:g.26580447G>A	-
RCV000494267	p.Thr185Ile	missense variant	-	NC_000015.10:g.26580447G>A	ClinVar
rs769801846	p.Thr186Met	missense variant	-	NC_000015.10:g.26580444G>A	ExAC,TOPMed,gnomAD
COSM4895274	p.Asp187Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580442C>T	NCI-TCGA Cosmic
COSM1516756	p.Asp188Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580439C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu190Asp	missense variant	-	NC_000015.10:g.26580431C>A	NCI-TCGA
rs369581041	p.Arg194Gln	missense variant	-	NC_000015.10:g.26580420C>T	ESP,TOPMed
rs1555368345	p.Arg194Ter	stop gained	-	NC_000015.10:g.26580421G>A	-
RCV000578758	p.Arg194Ter	nonsense	-	NC_000015.10:g.26580421G>A	ClinVar
rs1377234655	p.Gly196Glu	missense variant	-	NC_000015.10:g.26580414C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly196Trp	missense variant	-	NC_000015.10:g.26580415C>A	NCI-TCGA
rs375461837	p.Asp197Asn	missense variant	-	NC_000015.10:g.26580412C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1381956789	p.Lys198Asn	missense variant	-	NC_000015.10:g.26580407C>A	TOPMed,gnomAD
rs1423915719	p.Ala199Val	missense variant	-	NC_000015.10:g.26580405G>A	TOPMed
NCI-TCGA novel	p.Val200AspCysAlaTyrTerMetLeuCysIleValIle	stop gained	-	NC_000015.10:g.26580402_26580403insTTACAATGCACAGCATTCAGTAAGCACAGT	NCI-TCGA
rs372359936	p.Val200Ile	missense variant	-	NC_000015.10:g.26580403C>T	ESP,ExAC,gnomAD
rs1235802940	p.Thr201Ala	missense variant	-	NC_000015.10:g.26580400T>C	gnomAD
rs758801051	p.Gly202Arg	missense variant	-	NC_000015.10:g.26580397C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly202Val	missense variant	-	NC_000015.10:g.26580396C>A	NCI-TCGA
rs753078265	p.Glu207Ala	missense variant	-	NC_000015.10:g.26580381T>G	ExAC,gnomAD
rs1369230542	p.Leu208Phe	missense variant	-	NC_000015.10:g.26580379G>A	TOPMed
rs765803669	p.Pro209Leu	missense variant	-	NC_000015.10:g.26580375G>A	ExAC,gnomAD
COSM3500216	p.Pro209Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580376G>A	NCI-TCGA Cosmic
rs749931408	p.Ile213Val	missense variant	-	NC_000015.10:g.26580364T>C	ExAC,gnomAD
rs761554616	p.Val214Met	missense variant	-	NC_000015.10:g.26580361C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His216Tyr	missense variant	-	NC_000015.10:g.26580355G>A	NCI-TCGA
rs1301259280	p.Arg217Cys	missense variant	-	NC_000015.10:g.26580352G>A	gnomAD
NCI-TCGA novel	p.Arg217Leu	missense variant	-	NC_000015.10:g.26580351C>A	NCI-TCGA
NCI-TCGA novel	p.Arg217Gly	missense variant	-	NC_000015.10:g.26580352G>C	NCI-TCGA
RCV000017574	p.Arg217His	missense variant	Insomnia	NC_000015.10:g.26580351C>T	ClinVar
rs121913125	p.Arg217His	missense variant	-	NC_000015.10:g.26580351C>T	UniProt,dbSNP
VAR_047959	p.Arg217His	missense variant	-	NC_000015.10:g.26580351C>T	UniProt
rs121913125	p.Arg217His	missense variant	-	NC_000015.10:g.26580351C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM389148	p.Arg217Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580352G>T	NCI-TCGA Cosmic
RCV000703382	p.Arg217His	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26580351C>T	ClinVar
rs769693685	p.Ser220Leu	missense variant	-	NC_000015.10:g.26580342G>A	ExAC,TOPMed,gnomAD
rs148418004	p.Arg221Lys	missense variant	-	NC_000015.10:g.26580339C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val223Ile	missense variant	-	NC_000015.10:g.26580334C>T	NCI-TCGA
COSM1147491	p.Val223Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580334C>A	NCI-TCGA Cosmic
COSM1252984	p.Ala226Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580325C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr227Lys	missense variant	-	NC_000015.10:g.26580321G>T	NCI-TCGA
COSM1587800	p.Thr227Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580321G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly228Ser	missense variant	-	NC_000015.10:g.26580319C>T	NCI-TCGA
NCI-TCGA novel	p.Ala229Asp	missense variant	-	NC_000015.10:g.26567730G>T	NCI-TCGA
NCI-TCGA novel	p.Pro231Thr	missense variant	-	NC_000015.10:g.26567725G>T	NCI-TCGA
rs797045045	p.Arg232Gln	missense variant	-	NC_000015.10:g.26567721C>T	UniProt,dbSNP
VAR_079429	p.Arg232Gln	missense variant	-	NC_000015.10:g.26567721C>T	UniProt
RCV000191088	p.Arg232Pro	missense variant	Epilepsy, childhood absence 5 (ECA5)	NC_000015.10:g.26567721C>G	ClinVar
RCV000699220	p.Arg232Gln	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26567721C>T	ClinVar
COSM266572	p.Ser234Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567716A>T	NCI-TCGA Cosmic
RCV000693650	p.Ser234Leu	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26567715G>A	ClinVar
COSM6077019	p.Leu235Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567712A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser236Asn	missense variant	-	NC_000015.10:g.26567709C>T	NCI-TCGA
COSM2150643	p.Phe237Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567707A>G	NCI-TCGA Cosmic
rs773257229	p.Arg238Gln	missense variant	-	NC_000015.10:g.26567703C>T	ExAC,TOPMed,gnomAD
RCV000646107	p.Arg238Trp	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26567704G>A	ClinVar
rs144496462	p.Arg238Trp	missense variant	-	NC_000015.10:g.26567704G>A	ESP,ExAC,TOPMed,gnomAD
COSM6077022	p.Arg238Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567703C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg241Thr	missense variant	-	NC_000015.10:g.26567694C>G	NCI-TCGA
COSM1587802	p.Asn242Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567692T>C	NCI-TCGA Cosmic
COSM6141985	p.Ile243Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567689T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly244Glu	missense variant	-	NC_000015.10:g.26567685C>T	NCI-TCGA
NCI-TCGA novel	p.Ile247Val	missense variant	-	NC_000015.10:g.26567677T>C	NCI-TCGA
rs886037940	p.Gln249Lys	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26567671G>T	UniProt,dbSNP
VAR_077079	p.Gln249Lys	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26567671G>T	UniProt
rs886037940	p.Gln249Lys	missense variant	-	NC_000015.10:g.26567671G>T	-
RCV000240922	p.Gln249Lys	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26567671G>T	ClinVar
rs41307112	p.Thr250Ile	missense variant	-	NC_000015.10:g.26567667G>A	gnomAD
COSM1147485	p.Tyr251Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567664T>C	NCI-TCGA Cosmic
COSM4839152	p.Tyr251Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567665A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met252Val	missense variant	-	NC_000015.10:g.26567662T>C	NCI-TCGA
rs1064796514	p.Pro253Leu	missense variant	-	NC_000015.10:g.26567658G>A	-
RCV000486184	p.Pro253Leu	missense variant	-	NC_000015.10:g.26567658G>A	ClinVar
NCI-TCGA novel	p.Ser254Thr	missense variant	-	NC_000015.10:g.26567656A>T	NCI-TCGA
rs1057519549	p.Ser254Phe	missense variant	-	NC_000015.10:g.26567655G>A	-
RCV000416942	p.Ser254Phe	missense variant	-	NC_000015.10:g.26567655G>A	ClinVar
rs748359037	p.Ile255Val	missense variant	-	NC_000015.10:g.26567653T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu256Gln	missense variant	-	NC_000015.10:g.26567649A>T	NCI-TCGA
rs1555401942	p.Leu256Val	missense variant	-	NC_000015.10:g.26567650G>C	-
RCV000503999	p.Leu256Val	missense variant	Epilepsy, childhood absence 5 (ECA5)	NC_000015.10:g.26567650G>C	ClinVar
VAR_077080	p.Leu256Gln	Missense	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]	-	UniProt
NCI-TCGA novel	p.Thr258Lys	missense variant	-	NC_000015.10:g.26567643G>T	NCI-TCGA
COSM167395	p.Thr258Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567643G>A	NCI-TCGA Cosmic
rs1423742333	p.Asn268Lys	missense variant	-	NC_000015.10:g.26567612A>C	gnomAD
NCI-TCGA novel	p.Ala273Gly	missense variant	-	NC_000015.10:g.26567598G>C	NCI-TCGA
NCI-TCGA novel	p.Ala277Val	missense variant	-	NC_000015.10:g.26567586G>A	NCI-TCGA
COSM1134463	p.Gly279Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567581C>T	NCI-TCGA Cosmic
rs1057518036	p.Ile280Phe	missense variant	-	NC_000015.10:g.26561174T>A	-
RCV000413814	p.Ile280Phe	missense variant	-	NC_000015.10:g.26561174T>A	ClinVar
RCV000662203	p.Thr281Ala	missense variant	Epileptic encephalopathy, early infantile, 1 (EIEE1)	NC_000015.10:g.26561171T>C	ClinVar
RCV000662204	p.Thr281Ala	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26561171T>C	ClinVar
rs1555401442	p.Thr281Ala	missense variant	-	NC_000015.10:g.26561171T>C	-
COSM6077028	p.Thr282Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561167G>T	NCI-TCGA Cosmic
VAR_078719	p.Thr287Ile	Missense	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]	-	UniProt
RCV000624329	p.Thr288Ile	missense variant	Inborn genetic diseases	NC_000015.10:g.26561149G>A	ClinVar
rs1555401440	p.Thr288Ile	missense variant	-	NC_000015.10:g.26561149G>A	-
NCI-TCGA novel	p.His292Gln	missense variant	-	NC_000015.10:g.26561136G>T	NCI-TCGA
VAR_077081	p.Leu293His	Missense	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]	-	UniProt
rs1085308023	p.Arg294Pro	missense variant	-	NC_000015.10:g.26561131C>G	-
rs769077258	p.Arg294Trp	missense variant	-	NC_000015.10:g.26561132G>A	ExAC,gnomAD
COSM1587804	p.Arg294Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561131C>T	NCI-TCGA Cosmic
RCV000488932	p.Arg294Pro	missense variant	-	NC_000015.10:g.26561131C>G	ClinVar
NCI-TCGA novel	p.Glu295ArgPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.26561129C>-	NCI-TCGA
rs749704431	p.Glu295Asp	missense variant	-	NC_000015.10:g.26561127C>A	ExAC,TOPMed
NCI-TCGA novel	p.Thr296Ala	missense variant	-	NC_000015.10:g.26561126T>C	NCI-TCGA
NCI-TCGA novel	p.Pro298His	missense variant	-	NC_000015.10:g.26561119G>T	NCI-TCGA
RCV000706288	p.Lys299Gln	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26561117T>G	ClinVar
RCV000761900	p.Ile300Leu	missense variant	-	NC_000015.10:g.26561114T>G	ClinVar
COSM1236030	p.Pro301Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561111G>A	NCI-TCGA Cosmic
COSM4396927	p.Pro301Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561110G>A	NCI-TCGA Cosmic
RCV000646102	p.Lys304Glu	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26561102T>C	ClinVar
rs1555401426	p.Lys304Glu	missense variant	-	NC_000015.10:g.26561102T>C	-
rs1555401425	p.Ala305Asp	missense variant	-	NC_000015.10:g.26561098G>T	-
rs886037941	p.Ala305Thr	missense variant	-	NC_000015.10:g.26561099C>T	-
rs886037941	p.Ala305Thr	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26561099C>T	UniProt,dbSNP
VAR_077082	p.Ala305Thr	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26561099C>T	UniProt
RCV000240948	p.Ala305Thr	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26561099C>T	ClinVar
RCV000519511	p.Ala305Asp	missense variant	-	NC_000015.10:g.26561098G>T	ClinVar
rs746425161	p.Met308Thr	missense variant	-	NC_000015.10:g.26561089A>G	ExAC,TOPMed,gnomAD
COSM6141991	p.Leu310Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561084G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met311Ile	missense variant	-	NC_000015.10:g.26561079C>A	NCI-TCGA
COSM1147479	p.Phe314Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561070G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu319Gln	missense variant	-	NC_000015.10:g.26561056A>T	NCI-TCGA
rs149963014	p.Tyr324Cys	missense variant	-	NC_000015.10:g.26561041T>C	1000Genomes,ExAC,gnomAD
COSM6077031	p.Tyr324Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561041T>G	NCI-TCGA Cosmic
COSM1147477	p.Ala325Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561039C>G	NCI-TCGA Cosmic
rs766202246	p.Phe331Ser	missense variant	-	NC_000015.10:g.26561020A>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe331Leu	missense variant	-	NC_000015.10:g.26561019G>T	NCI-TCGA
NCI-TCGA novel	p.Phe331Leu	missense variant	-	NC_000015.10:g.26561019G>C	NCI-TCGA
RCV000646101	p.Phe332Ser	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26561017A>G	ClinVar
rs1555401411	p.Phe332Ser	missense variant	-	NC_000015.10:g.26561017A>G	-
COSM4895424	p.Phe332Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561018A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly333Val	missense variant	-	NC_000015.10:g.26561014C>A	NCI-TCGA
COSM3500207	p.Gly333Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561014C>T	NCI-TCGA Cosmic
COSM6141994	p.Gly335Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561009C>T	NCI-TCGA Cosmic
COSM6141997	p.Gly335Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561008C>A	NCI-TCGA Cosmic
rs1473786163	p.Pro336Ser	missense variant	-	NC_000015.10:g.26561006G>A	gnomAD
COSM4894164	p.Pro336Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561005G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys340Met	missense variant	-	NC_000015.10:g.26560993T>A	NCI-TCGA
rs1187106820	p.Lys340Arg	missense variant	-	NC_000015.10:g.26560993T>C	gnomAD
rs761102474	p.Lys341Gln	missense variant	-	NC_000015.10:g.26560991T>G	ExAC,gnomAD
COSM1147475	p.Lys341Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26560991T>C	NCI-TCGA Cosmic
RCV000646104	p.Lys341Gln	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26560991T>G	ClinVar
NCI-TCGA novel	p.Leu342His	missense variant	-	NC_000015.10:g.26560987A>T	NCI-TCGA
COSM4828687	p.Leu342Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26560988G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu344Ter	stop gained	-	NC_000015.10:g.26560982C>A	NCI-TCGA
rs1224993536	p.Lys345Glu	missense variant	-	NC_000015.10:g.26560979T>C	TOPMed
rs761805689	p.Thr346Ile	missense variant	-	NC_000015.10:g.26560975G>A	ExAC,gnomAD
rs1365439059	p.Ala347Ser	missense variant	-	NC_000015.10:g.26560973C>A	gnomAD
RCV000687292	p.Ala347Pro	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26560973C>G	ClinVar
rs769025931	p.Lys350Arg	missense variant	-	NC_000015.10:g.26560963T>C	ExAC,gnomAD
rs1312128047	p.Lys350Asn	missense variant	-	NC_000015.10:g.26560962C>G	TOPMed
COSM1372146	p.Lys350Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26560964T>A	NCI-TCGA Cosmic
COSM1587806	p.Lys350Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26560962C>A	NCI-TCGA Cosmic
COSM4400508	p.Lys350Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26560964T>G	NCI-TCGA Cosmic
rs763319754	p.Asn351Ser	missense variant	-	NC_000015.10:g.26560960T>C	ExAC,TOPMed
RCV000538045	p.Arg353His	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26560954C>T	ClinVar
rs200057173	p.Arg353His	missense variant	-	NC_000015.10:g.26560954C>T	ESP,ExAC,TOPMed,gnomAD
rs200057173	p.Arg353Pro	missense variant	-	NC_000015.10:g.26560954C>G	ESP,ExAC,TOPMed,gnomAD
rs775988401	p.Arg353Cys	missense variant	-	NC_000015.10:g.26560955G>A	ExAC,TOPMed,gnomAD
RCV000646105	p.Arg353Cys	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26560955G>A	ClinVar
NCI-TCGA novel	p.Ser354Leu	missense variant	-	NC_000015.10:g.26560951G>A	NCI-TCGA
COSM1147473	p.Ser354Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26560951G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys355Thr	missense variant	-	NC_000015.10:g.26560948T>G	NCI-TCGA
NCI-TCGA novel	p.Ser356Arg	missense variant	-	NC_000015.10:g.26560946T>G	NCI-TCGA
rs1353127492	p.Glu357Ala	missense variant	-	NC_000015.10:g.26560942T>G	gnomAD
rs572427454	p.Glu357Lys	missense variant	-	NC_000015.10:g.26560943C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778442239	p.Arg360Pro	missense variant	-	NC_000015.10:g.26560933C>G	ExAC,TOPMed,gnomAD
rs778442239	p.Arg360Gln	missense variant	-	NC_000015.10:g.26560933C>T	ExAC,TOPMed,gnomAD
rs771568810	p.Arg360Trp	missense variant	-	NC_000015.10:g.26560934G>A	ExAC,TOPMed,gnomAD
COSM6142000	p.Arg360Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26560933C>A	NCI-TCGA Cosmic
RCV000548416	p.Arg360Trp	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26560934G>A	ClinVar
rs1323522480	p.Asp362Asn	missense variant	-	NC_000015.10:g.26548131C>T	gnomAD
rs770127431	p.Ala363Val	missense variant	-	NC_000015.10:g.26548127G>A	ExAC,gnomAD
rs1171643037	p.His364Tyr	missense variant	-	NC_000015.10:g.26548125G>A	gnomAD
COSM6077034	p.His364Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548125G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly365Ter	stop gained	-	NC_000015.10:g.26548122C>A	NCI-TCGA
NCI-TCGA novel	p.Gly365Glu	missense variant	-	NC_000015.10:g.26548121C>T	NCI-TCGA
rs759847671	p.Asn366Ser	missense variant	-	NC_000015.10:g.26548118T>C	ExAC,gnomAD
rs1259967534	p.Ile367Thr	missense variant	-	NC_000015.10:g.26548115A>G	gnomAD
NCI-TCGA novel	p.Leu368Met	missense variant	-	NC_000015.10:g.26548113G>T	NCI-TCGA
NCI-TCGA novel	p.Leu369Ter	frameshift	-	NC_000015.10:g.26548111C>-	NCI-TCGA
NCI-TCGA novel	p.Thr370Ile	missense variant	-	NC_000015.10:g.26548106G>A	NCI-TCGA
rs1220761805	p.Ser371Leu	missense variant	-	NC_000015.10:g.26548103G>A	gnomAD
rs1220761805	p.Ser371Trp	missense variant	-	NC_000015.10:g.26548103G>C	gnomAD
rs747555032	p.Ser371Ala	missense variant	-	NC_000015.10:g.26548104A>C	ExAC,gnomAD
rs1316976738	p.Glu373Lys	missense variant	-	NC_000015.10:g.26548098C>T	gnomAD
NCI-TCGA novel	p.Glu373Asp	missense variant	-	NC_000015.10:g.26548096T>G	NCI-TCGA
NCI-TCGA novel	p.Glu373Ter	stop gained	-	NC_000015.10:g.26548098C>A	NCI-TCGA
rs1293030887	p.Val374Ile	missense variant	-	NC_000015.10:g.26548095C>T	gnomAD
NCI-TCGA novel	p.His375Tyr	missense variant	-	NC_000015.10:g.26548092G>A	NCI-TCGA
rs756866953	p.Asn376Ser	missense variant	-	NC_000015.10:g.26548088T>C	ExAC,TOPMed,gnomAD
rs756866953	p.Asn376Thr	missense variant	-	NC_000015.10:g.26548088T>G	ExAC,TOPMed,gnomAD
rs1293440696	p.Glu377Ala	missense variant	-	NC_000015.10:g.26548085T>G	gnomAD
COSM4053757	p.Met378Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548083T>C	NCI-TCGA Cosmic
COSM291389	p.Met378Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548081C>T	NCI-TCGA Cosmic
rs1439421386	p.Asn379Ser	missense variant	-	NC_000015.10:g.26548079T>C	gnomAD
rs745675693	p.Glu380Ala	missense variant	-	NC_000015.10:g.26548076T>G	ExAC,gnomAD
COSM4053754	p.Val381Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548073A>T	NCI-TCGA Cosmic
COSM4395939	p.Ser382Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26548070G>C	NCI-TCGA Cosmic
RCV000702509	p.Gly383Asp	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26548067C>T	ClinVar
rs757233280	p.Gly384Ser	missense variant	-	NC_000015.10:g.26548065C>T	ExAC,TOPMed,gnomAD
COSM3500201	p.Gly384Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548064C>T	NCI-TCGA Cosmic
rs1352939866	p.Ile385Val	missense variant	-	NC_000015.10:g.26548062T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly386Cys	missense variant	-	NC_000015.10:g.26548059C>A	NCI-TCGA
COSM1587808	p.Gly386Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548058C>T	NCI-TCGA Cosmic
rs373823173	p.Asp387Tyr	missense variant	-	NC_000015.10:g.26548056C>A	ESP,ExAC,TOPMed,gnomAD
rs373823173	p.Asp387Asn	missense variant	-	NC_000015.10:g.26548056C>T	ESP,ExAC,TOPMed,gnomAD
rs1238941293	p.Thr388Asn	missense variant	-	NC_000015.10:g.26548052G>T	TOPMed
NCI-TCGA novel	p.Ser391Ter	stop gained	-	NC_000015.10:g.26548043G>C	NCI-TCGA
rs868123323	p.Ser391Leu	missense variant	-	NC_000015.10:g.26548043G>A	gnomAD
rs1452550296	p.Ala392Pro	missense variant	-	NC_000015.10:g.26548041C>G	gnomAD
rs376621773	p.Ile393Val	missense variant	-	NC_000015.10:g.26548038T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser394Pro	missense variant	-	NC_000015.10:g.26548035A>G	NCI-TCGA
rs765397939	p.Phe395Leu	missense variant	-	NC_000015.10:g.26548030A>T	ExAC
rs759850668	p.Ser398Leu	missense variant	-	NC_000015.10:g.26548022G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly399Arg	missense variant	-	NC_000015.10:g.26548020C>T	NCI-TCGA
COSM1147469	p.Gly399Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26548020C>A	NCI-TCGA Cosmic
COSM5920817	p.Gly399Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548019C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln401Ter	stop gained	-	NC_000015.10:g.26548014G>A	NCI-TCGA
rs185383468	p.Tyr402His	missense variant	-	NC_000015.10:g.26548011A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000646114	p.Tyr402His	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26548011A>G	ClinVar
rs1249196334	p.Gln405His	missense variant	-	NC_000015.10:g.26548000C>G	gnomAD
RCV000578892	p.Arg409Ter	nonsense	-	NC_000015.10:g.26547990G>A	ClinVar
rs1555400368	p.Arg409Ter	stop gained	-	NC_000015.10:g.26547990G>A	-
NCI-TCGA novel	p.Arg409Leu	missense variant	-	NC_000015.10:g.26547989C>A	NCI-TCGA
rs766795597	p.Arg409Gln	missense variant	-	NC_000015.10:g.26547989C>T	ExAC,gnomAD
rs373229638	p.Arg414Leu	missense variant	-	NC_000015.10:g.26547974C>A	ESP,ExAC,TOPMed,gnomAD
rs373229638	p.Arg414Gln	missense variant	-	NC_000015.10:g.26547974C>T	ESP,ExAC,TOPMed,gnomAD
rs536564598	p.Arg414Gly	missense variant	-	NC_000015.10:g.26547975G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs536564598	p.Arg414Ter	stop gained	-	NC_000015.10:g.26547975G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000518986	p.Arg414Leu	missense variant	-	NC_000015.10:g.26547974C>A	ClinVar
COSM4053751	p.Phe415Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547970G>C	NCI-TCGA Cosmic
rs1555400362	p.Leu416Pro	missense variant	-	NC_000015.10:g.26547968A>G	-
RCV000623967	p.Leu416Pro	missense variant	Inborn genetic diseases	NC_000015.10:g.26547968A>G	ClinVar
COSM6077037	p.Leu416Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547969G>T	NCI-TCGA Cosmic
COSM6142003	p.Gly417Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547966C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp418Val	missense variant	-	NC_000015.10:g.26547962T>A	NCI-TCGA
NCI-TCGA novel	p.Arg419Ser	missense variant	-	NC_000015.10:g.26547958T>G	NCI-TCGA
rs1176582489	p.Arg419Gly	missense variant	-	NC_000015.10:g.26547960T>C	TOPMed
COSM3420200	p.Arg419Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547959C>T	NCI-TCGA Cosmic
rs775162860	p.Leu421Phe	missense variant	-	NC_000015.10:g.26547954G>A	ExAC,gnomAD
rs369631109	p.Pro422Leu	missense variant	-	NC_000015.10:g.26547950G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro422Gln	missense variant	-	NC_000015.10:g.26547950G>T	NCI-TCGA
rs745578169	p.Pro422Ser	missense variant	-	NC_000015.10:g.26547951G>A	ExAC,gnomAD
RCV000516729	p.Pro422Leu	missense variant	-	NC_000015.10:g.26547950G>A	ClinVar
rs76962261	p.His423Gln	missense variant	-	NC_000015.10:g.26547946G>C	ExAC,TOPMed,gnomAD
RCV000458912	p.His423Gln	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26547946G>C	ClinVar
NCI-TCGA novel	p.His427Asn	missense variant	-	NC_000015.10:g.26547936G>T	NCI-TCGA
NCI-TCGA novel	p.Leu428Ile	missense variant	-	NC_000015.10:g.26547933G>T	NCI-TCGA
rs777882335	p.Arg429Gln	missense variant	-	NC_000015.10:g.26547929C>T	ExAC,TOPMed,gnomAD
rs1432656203	p.Arg429Trp	missense variant	-	NC_000015.10:g.26547930G>A	gnomAD
NCI-TCGA novel	p.Arg430Met	missense variant	-	NC_000015.10:g.26547926C>A	NCI-TCGA
rs1247883776	p.Gln434His	missense variant	-	NC_000015.10:g.26547913C>G	gnomAD
rs1387838469	p.Leu435Val	missense variant	-	NC_000015.10:g.26547912G>C	TOPMed
rs1483399861	p.Ile437Val	missense variant	-	NC_000015.10:g.26547906T>C	gnomAD
NCI-TCGA novel	p.Ile439Val	missense variant	-	NC_000015.10:g.26547900T>C	NCI-TCGA
rs755150694	p.Ile439Met	missense variant	-	NC_000015.10:g.26547898T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu442Arg	missense variant	-	NC_000015.10:g.26547890A>C	NCI-TCGA
rs1356299292	p.Leu442Ile	missense variant	-	NC_000015.10:g.26547891G>T	gnomAD
COSM3794041	p.Leu442Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547891G>C	NCI-TCGA Cosmic
rs1258967085	p.Thr443Ser	missense variant	-	NC_000015.10:g.26547887G>C	TOPMed
rs1218316231	p.Thr443Ser	missense variant	-	NC_000015.10:g.26547888T>A	TOPMed
rs766672883	p.Asp444Asn	missense variant	-	NC_000015.10:g.26547885C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp444Tyr	missense variant	-	NC_000015.10:g.26547885C>A	NCI-TCGA
COSM6077040	p.Val445Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547882C>T	NCI-TCGA Cosmic
rs773671278	p.Asn446Asp	missense variant	-	NC_000015.10:g.26547879T>C	ExAC,gnomAD
rs762434164	p.Ala447Thr	missense variant	-	NC_000015.10:g.26547876C>T	ExAC,gnomAD
rs377215030	p.Ile448Val	missense variant	-	NC_000015.10:g.26547873T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp451Ter	stop gained	-	NC_000015.10:g.26547862C>T	NCI-TCGA
NCI-TCGA novel	p.Trp451Leu	missense variant	-	NC_000015.10:g.26547863C>A	NCI-TCGA
rs1362237548	p.Ile454Asn	missense variant	-	NC_000015.10:g.26547854A>T	gnomAD
rs1453012489	p.Val455Met	missense variant	-	NC_000015.10:g.26547852C>T	gnomAD
COSM1147465	p.Val455Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547852C>G	NCI-TCGA Cosmic
rs1361534288	p.Pro457Thr	missense variant	-	NC_000015.10:g.26547846G>T	gnomAD
NCI-TCGA novel	p.Thr459Asn	missense variant	-	NC_000015.10:g.26547839G>T	NCI-TCGA
NCI-TCGA novel	p.Phe460Cys	missense variant	-	NC_000015.10:g.26547836A>C	NCI-TCGA
COSM6142006	p.Ser461Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547833G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu462Arg	missense variant	-	NC_000015.10:g.26547830A>C	NCI-TCGA
COSM1301000	p.Leu465Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26547821A>T	NCI-TCGA Cosmic
COSM3500195	p.Leu465Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26547821A>C	NCI-TCGA Cosmic
COSM6142009	p.Ter474CysGluUnkThrTerUnkUnk	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26547793T>A	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001807	Aggressive behavior	phenotype	HPO
C0001890	Akinetic Petit Mal	disease	CTD_human
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE;PSYGENET
C0003467	Anxiety	disease	BEFREE
C0003469	Anxiety Disorders	group	BEFREE
C0004352	Autistic Disorder	group	BEFREE;CTD_human;LHGDN;MGD
C0005586	Bipolar Disorder	disease	BEFREE;PSYGENET
C0005890	Body Height	phenotype	GWASDB
C0007758	Cerebellar Ataxia	phenotype	HPO
C0008924	Cleft upper lip	disease	LHGDN
C0008925	Cleft Palate	disease	BEFREE;LHGDN
C0009952	Febrile Convulsions	disease	BEFREE
C0011253	Delusions	disease	BEFREE
C0011570	Mental Depression	disease	BEFREE;PSYGENET
C0011581	Depressive disorder	disease	BEFREE;PSYGENET
C0013384	Dyskinetic syndrome	disease	HPO
C0014544	Epilepsy	disease	BEFREE;CTD_human;HPO
C0014548	Epilepsy, Generalized	disease	BEFREE
C0014553	Absence Epilepsy	disease	BEFREE;CTD_human;LHGDN
C0014556	Epilepsy, Temporal Lobe	disease	BEFREE;LHGDN
C0019337	Heroin Dependence	disease	BEFREE
C0021603	Sleep Initiation and Maintenance Disorders	disease	CTD_human
C0025362	Mental Retardation	disease	HPO
C0027066	Myoclonus	phenotype	HPO
C0030297	Pancreatic Neoplasm	disease	LHGDN
C0030319	Panic Disorder	disease	BEFREE
C0031212	Personality Disorders	group	HPO
C0032897	Prader-Willi Syndrome	disease	BEFREE
C0033139	Primary Insomnia	disease	CTD_human
C0035372	Rett Syndrome	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;LHGDN;PSYGENET
C0036572	Seizures	phenotype	HPO
C0037769	West Syndrome	disease	BEFREE
C0085584	Encephalopathies	group	HPO
C0085639	Falls	phenotype	HPO
C0085742	Injuries, Acute Brain	group	CTD_human
C0086237	Epilepsy, Cryptogenic	disease	CTD_human
C0158646	Cleft palate with cleft lip	disease	BEFREE
C0162635	Angelman Syndrome	disease	BEFREE;CTD_human
C0234533	Generalized seizures	disease	BEFREE
C0234985	Mental deterioration	phenotype	HPO
C0236018	Aura	phenotype	CTD_human
C0238111	Lennox-Gastaut syndrome	disease	BEFREE;ORPHANET
C0270541	Rebound Insomnia	phenotype	CTD_human
C0270611	Brain Injuries	group	CTD_human
C0270846	Epileptic drop attack	disease	HPO
C0270850	Idiopathic generalized epilepsy	disease	BEFREE
C0270853	Juvenile Myoclonic Epilepsy	disease	BEFREE
C0270854	Symptomatic Generalized Epilepsy	disease	BEFREE
C0272945	Brain Lacerations	disease	CTD_human
C0349255	Nonorganic Insomnia	disease	CTD_human
C0376634	Craniofacial Abnormalities	group	CTD_human
C0393593	Dystonia Disorders	group	LHGDN
C0393759	Transient Insomnia	phenotype	CTD_human
C0423903	Low intelligence	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	HPO
C0424323	Physical aggression	phenotype	HPO
C0452047	Brain Injuries, Focal	group	CTD_human
C0494475	Tonic - clonic seizures	disease	HPO
C0541798	Early Awakening	phenotype	CTD_human
C0543888	Epileptic encephalopathy	disease	BEFREE;CLINVAR;GENOMICS_ENGLAND;HPO
C0557874	Global developmental delay	disease	HPO
C0595948	Atypical absence seizure	disease	HPO
C0740858	Substance abuse problem	disease	BEFREE
C0751111	Awakening Epilepsy	disease	CTD_human
C0751122	Infantile Severe Myoclonic Epilepsy	disease	BEFREE
C0751124	Epilepsy, Absence, Atypical	disease	CTD_human
C0751249	Chronic Insomnia	disease	CTD_human
C0751250	Psychophysiological Insomnia	disease	CTD_human
C0751251	Secondary Insomnia	phenotype	CTD_human
C0751252	Sleep Initiation Dysfunction	disease	CTD_human
C0752203	Dystonia, Primary	disease	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C0856975	Autistic behavior	disease	BEFREE;HPO
C0917801	Sleeplessness	phenotype	CTD_human
C0917816	Mental deficiency	disease	HPO
C1457883	Aggressive reaction	phenotype	HPO
C1510586	Autism Spectrum Disorders	disease	BEFREE;CTD_human;HPO;MGD
C1535926	Neurodevelopmental Disorders	group	BEFREE
C1611184	Calcification of coronary artery	phenotype	GWASDB
C1704276	Spasmodic movement	phenotype	HPO
C1836508	Generalized tonic seizures	phenotype	HPO
C1836509	Hypotonic seizures	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1838604	EPILEPSY, CHILDHOOD ABSENCE, 1	disease	ORPHANET
C1843367	Poor school performance	phenotype	HPO
C1850601	Abnormality of brainstem morphology	phenotype	HPO
C1854302	Involuntary jerking movements	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1868649	PANIC DISORDER 1	disease	BEFREE
C2239176	Liver carcinoma	disease	LHGDN
C2677087	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	phenotype	CLINVAR;UNIPROT
C2981150	Uranostaphyloschisis	disease	BEFREE
C3711376	Isodicentric Chromosome 15 Syndrome	disease	BEFREE;CTD_human
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3887898	Infantile Spasm	disease	BEFREE
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021813	Oral cleft	disease	BEFREE
C4023479	EEG with focal sharp slow waves	phenotype	HPO
C4281785	Childhood Absence Epilepsy	disease	CTD_human
C4310712	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43	disease	CLINVAR;CTD_human;UNIPROT
C4317339	Juvenile Absence Epilepsy	disease	CTD_human
C4476550	Sudden loss of muscle tone	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004890	GABA-A receptor activity	IMP
GO:0022851	GABA-gated chloride ion channel activity	ISS
GO:0022851	GABA-gated chloride ion channel activity	IMP
GO:0022851	GABA-gated chloride ion channel activity	IDA
GO:0042802	identical protein binding	IPI
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007165	signal transduction	IBA
GO:0007214	gamma-aminobutyric acid signaling pathway	IMP
GO:0007268	chemical synaptic transmission	IBA
GO:0007605	sensory perception of sound	IEA
GO:0034220	ion transmembrane transport	IBA
GO:0042391	regulation of membrane potential	IBA
GO:0043524	negative regulation of neuron apoptotic process	IEA
GO:0050877	nervous system process	IBA
GO:0060021	roof of mouth development	ISS
GO:0060080	inhibitory postsynaptic potential	IEA
GO:0060119	inner ear receptor cell development	IEA
GO:0060384	innervation	IEA
GO:0071420	cellular response to histamine	IDA
GO:0090102	cochlea development	IEA
GO:1902476	chloride transmembrane transport	ISS
GO:1902476	chloride transmembrane transport	IMP
GO:1902476	chloride transmembrane transport	IDA
GO:1904862	inhibitory synapse assembly	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IBA
GO:0005887	integral component of plasma membrane	IMP
GO:0030054	cell junction	IEA
GO:0030659	cytoplasmic vesicle membrane	IEA
GO:0034707	chloride channel complex	IEA
GO:0043005	neuron projection	IBA
GO:0045202	synapse	IBA
GO:0045211	postsynaptic membrane	IEA
GO:0098982	GABA-ergic synapse	IEA
GO:1902711	GABA-A receptor complex	ISS
GO:1902711	GABA-A receptor complex	IMP
GO:1902711	GABA-A receptor complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission	TAS
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission	IEA
R-HSA-112315	Transmission across Chemical Synapses	TAS
R-HSA-112315	Transmission across Chemical Synapses	IEA
R-HSA-112316	Neuronal System	TAS
R-HSA-112316	Neuronal System	IEA
R-HSA-1236394	Signaling by ERBB4	IEA
R-HSA-162582	Signal Transduction	IEA
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	IEA
R-HSA-977443	GABA receptor activation	TAS
R-HSA-977443	GABA receptor activation	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C091518	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to and results in decreased activity of GABRB3 protein	21111751
C091518	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to [GABRA1 protein binds to GABRB3 protein]	21111751
C091518	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to GABRB3 protein	11312652; 11489356; 16537435; 21111751;
C091518	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to [GABRB3 protein binds to GABRB1 protein]	21111751
C091518	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane	Endosulfan inhibits the reaction [1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to GABRB3 protein]	11312652
C091518	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane	Etomidate inhibits the reaction [1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to GABRB3 protein]	21111751
C091518	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane	fipronil inhibits the reaction [1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to GABRB3 protein]	11312652
C091518	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane	gamma-Aminobutyric Acid promotes the reaction [1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to [GABRA1 protein binds to GABRB3 protein]]	21111751
C091518	1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane	Hexachlorocyclohexane inhibits the reaction [1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to GABRB3 protein]	11312652
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of GABRB3 mRNA	28801915
C582212	1NMPP1 compound	[NTRK2 protein mutant form results in increased susceptibility to 1NMPP1 compound] which results in increased expression of GABRB3 mRNA	27417517
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of GABRB3 mRNA	21394737
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of GABRB3 mRNA	19114083
C570407	2,6-diisopropyl-4-(3-(3-methyl-3H-diazirin-3-yl)propyl)phenol	2,6-diisopropyl-4-(3-(3-methyl-3H-diazirin-3-yl)propyl)phenol promotes the reaction [Flunitrazepam binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	22029276
C570407	2,6-diisopropyl-4-(3-(3-methyl-3H-diazirin-3-yl)propyl)phenol	2,6-diisopropyl-4-(3-(3-methyl-3H-diazirin-3-yl)propyl)phenol promotes the reaction [Muscimol binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	22029276
C098123	3,3-bis(trifluoromethyl)bicyclo(2.2.1)heptane-2,2-dicarbonitrile	3,3-bis(trifluoromethyl)bicyclo(2.2.1)heptane-2,2-dicarbonitrile binds to GABRB3 protein	16537435
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Mercuric Chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C000609924	4-chloro-N-(2-(2-thienyl)imidazo(1,2-a)pyridin-3-yl)benzamide	4-chloro-N-(2-(2-thienyl)imidazo(1,2-a)pyridin-3-yl)benzamide results in increased activity of [GABRA4 protein binds to GABRB3 binds to GABRD protein]	29038840
D019342	Acetic Acid	Acetic Acid affects the expression of GABRB3 protein	21296659
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in increased expression of GABRB3 mRNA	28522335
C040534	alpha-hexachlorocyclohexane	alpha-hexachlorocyclohexane inhibits the reaction [tert-butylbicyclophosphorothionate binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C040534	alpha-hexachlorocyclohexane	alpha-hexachlorocyclohexane promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C006477	alphaxalone	alphaxalone promotes the reaction [Muscimol binds to GABRB3 protein]	8397295
D000639	Amitriptyline	Amitriptyline results in increased expression of GABRB3 mRNA	21820738
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of GABRB3 mRNA	16483693
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of GABRB3 mRNA	26705709
D001280	Atrazine	Atrazine results in decreased expression of GABRB3 mRNA	22378314
C487081	belinostat	belinostat results in increased expression of GABRB3 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C037689	benzamide	benzamide analog binds to and results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRD protein]	18762200
C037689	benzamide	benzamide analog promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRD protein]]	18762200
D001640	Bicuculline	Bicuculline results in decreased activity of [GABRA2 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D001640	Bicuculline	Bicuculline results in decreased activity of [GABRA6 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D001640	Bicuculline	Bicuculline results in decreased expression of GABRB3 mRNA	9600394
C006780	bisphenol A	bisphenol A results in decreased expression of GABRB3 mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased expression of GABRB3 mRNA	29097150
C054626	bretazenil	bretazenil binds to and results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
C054626	bretazenil	bretazenil binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
C099813	bromochloroacetic acid	bromochloroacetic acid affects the expression of GABRB3 protein	21296659
C018475	butyraldehyde	butyraldehyde results in decreased expression of GABRB3 mRNA	26079696
D002104	Cadmium	Cadmium results in increased expression of GABRB3 mRNA	23369406
C084597	chlorcyclizine	chlorcyclizine results in increased expression of GABRB3 mRNA	21058326
D002712	Chlorides	GABRB3 protein results in increased transport of Chlorides	8161449
D002712	Chlorides	gamma-Aminobutyric Acid promotes the reaction [GABRB3 protein results in increased transport of Chlorides]	8161449
D002712	Chlorides	loreclezole promotes the reaction [gamma-Aminobutyric Acid promotes the reaction [GABRB3 protein results in increased transport of Chlorides]]	8161449
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of GABRB3 mRNA	20938992
C021604	CL 218872	CL 218872 binds to and results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
D003024	Clozapine	Clozapine results in increased expression of GABRB3 mRNA	18923069
D003042	Cocaine	Cocaine affects the expression of GABRB3 mRNA	20187946
D003042	Cocaine	Cocaine affects the phosphorylation of and affects the expression of GABRB3 protein	20826313
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of GABRB3 mRNA	19549813
D003471	Cuprizone	Cuprizone results in decreased expression of GABRB3 mRNA	26577399
C086916	delta-hexachlorocyclohexane	[delta-hexachlorocyclohexane co-treated with Lanthanum] promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C086916	delta-hexachlorocyclohexane	[delta-hexachlorocyclohexane co-treated with loreclezole] promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C086916	delta-hexachlorocyclohexane	delta-hexachlorocyclohexane inhibits the reaction [Picrotoxin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
C086916	delta-hexachlorocyclohexane	delta-hexachlorocyclohexane inhibits the reaction [Propofol promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
C086916	delta-hexachlorocyclohexane	delta-hexachlorocyclohexane inhibits the reaction [tert-butylbicyclophosphorothionate binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C086916	delta-hexachlorocyclohexane	delta-hexachlorocyclohexane promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C086916	delta-hexachlorocyclohexane	delta-hexachlorocyclohexane promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C086916	delta-hexachlorocyclohexane	delta-hexachlorocyclohexane results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	9316872
C086916	delta-hexachlorocyclohexane	delta-hexachlorocyclohexane results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]	9316872
C086916	delta-hexachlorocyclohexane	Hexachlorocyclohexane inhibits the reaction [delta-hexachlorocyclohexane promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D003907	Dexamethasone	Dexamethasone results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	9316872
D003975	Diazepam	Diazepam results in increased activity of [GABRA1 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D003975	Diazepam	Diazepam results in increased activity of [GABRA2 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D003975	Diazepam	Diazepam results in increased expression of GABRB3 mRNA	15802192
D003999	Dichloroacetic Acid	Dichloroacetic Acid results in decreased expression of GABRB3 mRNA	28962523
D004026	Dieldrin	Dieldrin results in decreased expression of GABRB3 mRNA	9600394
D004026	Dieldrin	Dieldrin results in increased expression of GABRB3 mRNA	9302086
C516138	dorsomorphin	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Mercuric Chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of GABRB3 mRNA	29803840
D004726	Endosulfan	Endosulfan binds to GABRB3 protein	11489356; 16537435;
D004726	Endosulfan	Endosulfan inhibits the reaction [1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to GABRB3 protein]	11312652
C118739	entinostat	entinostat results in decreased expression of GABRB3 mRNA	27188386
C118739	entinostat	entinostat results in increased expression of GABRB3 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
D004958	Estradiol	Estradiol results in increased expression of GABRB3 mRNA	16000229
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of GABRB3 mRNA	19833106
D000431	Ethanol	Ethanol affects the expression of and affects the splicing of GABRB3 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of GABRB3 mRNA	28069986
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of GABRB3 mRNA	29097150
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of GABRB3 mRNA	23129252
D005045	Etomidate	Etomidate inhibits the reaction [1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to GABRB3 protein]	21111751
D005045	Etomidate	GABRB3 protein results in increased susceptibility to Etomidate	9523823
D000078328	Felbamate	Felbamate results in decreased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]	17056029
D000078328	Felbamate	Felbamate results in decreased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]	17056029
D000078328	Felbamate	Felbamate results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]	17056029
D000078328	Felbamate	Felbamate results in increased activity of [GABRA2 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]	17056029
C082360	fipronil	fipronil binds to GABRB3 protein	11489356; 16537435;
C082360	fipronil	fipronil inhibits the reaction [1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to GABRB3 protein]	11312652
C082360	fipronil	fipronil results in decreased activity of [GABRA1 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
C082360	fipronil	fipronil results in decreased activity of [GABRA2 protein binds to GABRB3]	29038840
C082360	fipronil	fipronil results in decreased activity of [GABRA2 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
C082360	fipronil	fipronil results in decreased activity of [GABRA4 protein binds to GABRB3 binds to GABRD protein]	29038840
C082360	fipronil	fipronil results in decreased activity of [GABRA4 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
C082360	fipronil	fipronil results in decreased activity of [GABRA6 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D005442	Flumazenil	Flumazenil binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
D005442	Flumazenil	Flumazenil binds to [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
D005442	Flumazenil	Flumazenil promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]	8632757
D005445	Flunitrazepam	2,6-diisopropyl-4-(3-(3-methyl-3H-diazirin-3-yl)propyl)phenol promotes the reaction [Flunitrazepam binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	22029276
D005445	Flunitrazepam	Flunitrazepam binds to and results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
D005445	Flunitrazepam	Flunitrazepam binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	22029276
D005445	Flunitrazepam	Propofol affects the reaction [Flunitrazepam binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	22029276
D005472	Fluorouracil	Fluorouracil results in increased expression of GABRB3 protein	21296659
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of GABRB3 mRNA	20938992
D018682	GABA Agents	GABA Agents binds to and results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
D018682	GABA Agents	GABA Agents binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
D005680	gamma-Aminobutyric Acid	alpha-hexachlorocyclohexane promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	benzamide analog promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRD protein]]	18762200
D005680	gamma-Aminobutyric Acid	[delta-hexachlorocyclohexane co-treated with Lanthanum] promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	[delta-hexachlorocyclohexane co-treated with loreclezole] promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	delta-hexachlorocyclohexane inhibits the reaction [Picrotoxin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D005680	gamma-Aminobutyric Acid	delta-hexachlorocyclohexane inhibits the reaction [Propofol promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D005680	gamma-Aminobutyric Acid	delta-hexachlorocyclohexane promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	delta-hexachlorocyclohexane promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	Flumazenil promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]	8632757
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid promotes the reaction [1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to [GABRA1 protein binds to GABRB3 protein]]	21111751
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid promotes the reaction [GABRB3 protein results in increased transport of Chlorides]	8161449
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	9316872
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]	29038840
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid results in increased activity of [GABRA2 protein binds to GABRB3 protein]	29038840
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid results in increased activity of [GABRA2 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]	29038840
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRD protein]	18762200; 29038840;
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]	29038840
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRD protein]	29038840
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG1 protein]	29038840
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]	9316872
D005680	gamma-Aminobutyric Acid	gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]	29038840
D005680	gamma-Aminobutyric Acid	Hexachlorocyclohexane inhibits the reaction [delta-hexachlorocyclohexane promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D005680	gamma-Aminobutyric Acid	Hexachlorocyclohexane inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	Hexachlorocyclohexane inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	Hexachlorocyclohexane inhibits the reaction [Pentobarbital promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D005680	gamma-Aminobutyric Acid	Hexachlorocyclohexane inhibits the reaction [Picrotoxin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D005680	gamma-Aminobutyric Acid	Lanthanum promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	loreclezole promotes the reaction [gamma-Aminobutyric Acid promotes the reaction [GABRB3 protein results in increased transport of Chlorides]]	8161449
D005680	gamma-Aminobutyric Acid	loreclezole promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	Pentobarbital promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	Picrotoxin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
D005680	gamma-Aminobutyric Acid	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA2 protein binds to GABRB3 protein]]	29038840
D005680	gamma-Aminobutyric Acid	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA2 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
D005680	gamma-Aminobutyric Acid	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
D005680	gamma-Aminobutyric Acid	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
D005680	gamma-Aminobutyric Acid	[Propofol co-treated with Pentobarbital] promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	Propofol promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D005680	gamma-Aminobutyric Acid	Ro 15-4513 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]	8632757
D005680	gamma-Aminobutyric Acid	tetramethylenedisulfotetramine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
D005680	gamma-Aminobutyric Acid	tetramethylenedisulfotetramine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA2 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
D005680	gamma-Aminobutyric Acid	tetramethylenedisulfotetramine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRD protein]]	29038840
D005680	gamma-Aminobutyric Acid	tetramethylenedisulfotetramine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRD protein]]	29038840
D005680	gamma-Aminobutyric Acid	tetramethylenedisulfotetramine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
D006220	Haloperidol	Haloperidol results in increased expression of GABRB3 mRNA	18923069
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane binds to GABRB3 protein	11489356; 16537435;
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane inhibits the reaction [1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane binds to GABRB3 protein]	11312652
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane inhibits the reaction [delta-hexachlorocyclohexane promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane inhibits the reaction [Pentobarbital promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane inhibits the reaction [Pentobarbital results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane inhibits the reaction [Picrotoxin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane inhibits the reaction [tert-butylbicyclophosphorothionate binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C005499	honokiol	honokiol results in increased activity of [GABRA1 protein binds to GABRB3 protein]	21699169
D007608	Kainic Acid	Kainic Acid results in increased expression of GABRB3 mRNA	27386150
D007608	Kainic Acid	Quercetin inhibits the reaction [Kainic Acid results in increased expression of GABRB3 mRNA]	27386150
D048628	Ketolides	Ketolides analog results in increased expression of GABRB3 mRNA	24967691
C063822	L 663581	L 663581 binds to and results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
C063822	L 663581	L 663581 binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
D007811	Lanthanum	[delta-hexachlorocyclohexane co-treated with Lanthanum] promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D007811	Lanthanum	Lanthanum promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C066440	loreclezole	[delta-hexachlorocyclohexane co-treated with loreclezole] promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C066440	loreclezole	GABRB3 protein affects the susceptibility to loreclezole	10797553
C066440	loreclezole	loreclezole promotes the reaction [gamma-Aminobutyric Acid promotes the reaction [GABRB3 protein results in increased transport of Chlorides]]	8161449
C066440	loreclezole	loreclezole promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C025340	manganese chloride	manganese chloride results in decreased expression of GABRB3 mRNA	28801915
C042720	mercuric bromide	mercuric bromide results in increased expression of GABRB3 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
D008627	Mercuric Chloride	[NOG protein co-treated with Mercuric Chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
D008694	Methamphetamine	Methamphetamine affects the expression of GABRB3 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of GABRB3 mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of GABRB3 mRNA	23179753; 26272509; 28001369;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
D008874	Midazolam	GABRB3 protein results in increased susceptibility to Midazolam	9523823
D009118	Muscimol	2,6-diisopropyl-4-(3-(3-methyl-3H-diazirin-3-yl)propyl)phenol promotes the reaction [Muscimol binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	22029276
D009118	Muscimol	Muscimol binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	22029276
D009118	Muscimol	Propofol affects the reaction [Muscimol binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	22029276
D009118	Muscimol	alphaxalone promotes the reaction [Muscimol binds to GABRB3 protein]	8397295
D009118	Muscimol	Muscimol binds to GABRB3 protein	8397295
D009118	Muscimol	Pentobarbital promotes the reaction [Muscimol binds to GABRB3 protein]	8397295
C066471	NCS 382	NCS 382 results in increased expression of GABRB3 mRNA	29031482
C029407	oleylamide	GABRB3 gene mutant form results in decreased susceptibility to oleylamide	11742254
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of GABRB3 mRNA	26272509
D052638	Particulate Matter	Particulate Matter affects the methylation of GABRB3 promoter	28153600
D052638	Particulate Matter	Particulate Matter results in decreased expression of GABRB3 mRNA	28153600
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in increased expression of GABRB3 mRNA	26272509
D010424	Pentobarbital	Hexachlorocyclohexane inhibits the reaction [Pentobarbital promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D010424	Pentobarbital	Hexachlorocyclohexane inhibits the reaction [Pentobarbital results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D010424	Pentobarbital	Pentobarbital promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D010424	Pentobarbital	Pentobarbital results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	9316872
D010424	Pentobarbital	[Propofol co-treated with Pentobarbital] promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D010424	Pentobarbital	Pentobarbital promotes the reaction [Muscimol binds to GABRB3 protein]	8397295
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in increased expression of GABRB3 mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in increased expression of GABRB3 mRNA	19482888
C033457	phenobarbital quinidine	phenobarbital quinidine results in increased expression of GABRB3 mRNA	15802192
D019800	Phenol	Phenol results in decreased phosphorylation of GABRB3 protein	28964900
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of GABRB3 mRNA	26272509
D010852	Picrotoxin	delta-hexachlorocyclohexane inhibits the reaction [Picrotoxin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D010852	Picrotoxin	Hexachlorocyclohexane inhibits the reaction [Picrotoxin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D010852	Picrotoxin	Picrotoxin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C022961	picrotoxinin	GABRB3 protein results in increased susceptibility to picrotoxinin	29038840
C022961	picrotoxinin	picrotoxinin binds to GABRB3 protein	16537435
C022961	picrotoxinin	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
C022961	picrotoxinin	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA2 protein binds to GABRB3 protein]]	29038840
C022961	picrotoxinin	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA2 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
C022961	picrotoxinin	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
C022961	picrotoxinin	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
D011280	Pregnanolone	Pregnanolone results in increased activity of [GABRA1 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D011280	Pregnanolone	Pregnanolone results in increased activity of [GABRA2 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D011280	Pregnanolone	Pregnanolone results in increased activity of [GABRA4 protein binds to GABRB3 binds to GABRD protein]	29038840
D011280	Pregnanolone	Pregnanolone results in increased activity of [GABRA6 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of GABRB3 mRNA	19833106
D015742	Propofol	delta-hexachlorocyclohexane inhibits the reaction [Propofol promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]]	9316872
D015742	Propofol	Propofol affects the reaction [Flunitrazepam binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	22029276
D015742	Propofol	Propofol affects the reaction [Muscimol binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	22029276
D015742	Propofol	[Propofol co-treated with Pentobarbital] promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D015742	Propofol	Propofol promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
D015742	Propofol	Propofol results in increased activity of [GABRA1 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D015742	Propofol	Propofol results in increased activity of [GABRA2 protein binds to GABRB3]	29038840
D015742	Propofol	Propofol results in increased activity of [GABRA2 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D015742	Propofol	Propofol results in increased activity of [GABRA6 protein binds to GABRB3 binds to GABRG2 protein alternative form]	29038840
D011794	Quercetin	Quercetin inhibits the reaction [Kainic Acid results in increased expression of GABRB3 mRNA]	27386150
C042957	Ro 15-4513	Ro 15-4513 binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757
C042957	Ro 15-4513	Ro 15-4513 promotes the reaction [gamma-Aminobutyric Acid binds to and results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein]]	8632757
C017947	sodium arsenite	sodium arsenite affects the methylation of GABRB3 gene	28589171
D017693	Sodium Bicarbonate	[Sodium Chloride co-treated with Sodium Bicarbonate] results in decreased phosphorylation of GABRB3 protein	28964900
D012965	Sodium Chloride	[Sodium Chloride co-treated with Sodium Bicarbonate] results in decreased phosphorylation of GABRB3 protein	28964900
D000077210	Sunitinib	Sunitinib results in decreased expression of GABRB3 mRNA	31533062
C037476	tert-butylbicyclophosphorothionate	alpha-hexachlorocyclohexane inhibits the reaction [tert-butylbicyclophosphorothionate binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C037476	tert-butylbicyclophosphorothionate	delta-hexachlorocyclohexane inhibits the reaction [tert-butylbicyclophosphorothionate binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C037476	tert-butylbicyclophosphorothionate	Hexachlorocyclohexane inhibits the reaction [tert-butylbicyclophosphorothionate binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]]	9316872
C037476	tert-butylbicyclophosphorothionate	tert-butylbicyclophosphorothionate binds to [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	9316872
C037476	tert-butylbicyclophosphorothionate	tert-butylbicyclophosphorothionate binds to GABRB3 protein	16537435
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GABRB3 mRNA	21570461; 26377647;
C010349	tetramethylenedisulfotetramine	GABRB3 protein results in increased susceptibility to tetramethylenedisulfotetramine	29038840
C010349	tetramethylenedisulfotetramine	tetramethylenedisulfotetramine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
C010349	tetramethylenedisulfotetramine	tetramethylenedisulfotetramine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA2 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
C010349	tetramethylenedisulfotetramine	tetramethylenedisulfotetramine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRD protein]]	29038840
C010349	tetramethylenedisulfotetramine	tetramethylenedisulfotetramine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRD protein]]	29038840
C010349	tetramethylenedisulfotetramine	tetramethylenedisulfotetramine inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA6 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	29038840
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased methylation of GABRB3 intron	31039056
D014050	Toluene	Toluene affects the expression of GABRB3 mRNA	17108153
D014212	Tretinoin	Tretinoin results in decreased expression of GABRB3 mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of GABRB3 mRNA	24935251; 26272509;
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GABRB3 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of GABRB3 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of GABRB3 mRNA	23179753; 24383497; 24935251; 26272509; 27188386; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of GABRB3 gene	29154799
D014640	Vancomycin	Vancomycin results in increased expression of GABRB3 mRNA	18930951
D014801	Vitamin A	Vitamin A results in increased expression of GABRB3 mRNA	17225872
D000077337	Vorinostat	Vorinostat results in decreased expression of GABRB3 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of GABRB3 mRNA	26272509
D000077334	Zolpidem	Zolpidem binds to and results in increased activity of [GABRA1 protein binds to GABRB3 protein binds to GABRG2 protein]	8632757

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0965	Cell junction
KW-1003	Cell membrane
KW-0868	Chloride
KW-0869	Chloride channel
KW-0968	Cytoplasmic vesicle
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0887	Epilepsy
KW-0325	Glycoprotein
KW-0407	Ion channel
KW-0406	Ion transport
KW-1071	Ligand-gated ion channel
KW-0472	Membrane
KW-0628	Postsynaptic cell membrane
KW-0675	Receptor
KW-1185	Reference proteome
KW-0732	Signal
KW-0770	Synapse
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR006028	GABAA/Glycine_rcpt
IPR002289	GABAAb_rcpt
IPR006202	Neur_chan_lig-bd
IPR036734	Neur_chan_lig-bd_sf
IPR006201	Neur_channel
IPR036719	Neuro-gated_channel_TM_sf
IPR006029	Neurotrans-gated_channel_TM
IPR018000	Neurotransmitter_ion_chnl_CS

PROSITE

PROSITE ID	PROSITE Term
PS00236	NEUROTR_ION_CHANNEL

Pfam

Pfam ID	Pfam Term
PF02931	Neur_chan_LBD
PF02932	Neur_chan_memb

Gene: GABRB3

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