CleftGeneDB-Search

Gene: ADH1C

Basic information

Tag	Content
Uniprot ID	P00326; Q4PJ18; Q5WRV0; Q6LBW4; Q6NWV0; Q6NZA7;
Entrez ID	126
Genbank protein ID	CAA27842.1; AAY68222.1; AAH66227.1; AAH67420.1; BAC06856.1; CAA27876.1; AAC41757.1; AAH62476.1; AAH67421.1; AAH67419.1; AAH74771.1; AAH66228.1; AAH74786.1; AAH67422.1;
Genbank nucleotide ID	NM_000669.4
Ensembl protein ID	ENSP00000426083
Ensembl nucleotide ID	ENSG00000248144
Gene name	Alcohol dehydrogenase 1C
Gene symbol	ADH1C
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	20810466
Functional description
Sequence	MSTAGKVIKC KAAVLWELKK PFSIEEVEVA PPKAHEVRIK MVAAGICRSD EHVVSGNLVT 60 PLPVILGHEA AGIVESVGEG VTTVKPGDKV IPLFTPQCGK CRICKNPESN YCLKNDLGNP 120 RGTLQDGTRR FTCSGKPIHH FVGVSTFSQY TVVDENAVAK IDAASPLEKV CLIGCGFSTG 180 YGSAVKVAKV TPGSTCAVFG LGGVGLSVVM GCKAAGAARI IAVDINKDKF AKAKELGATE 240 CINPQDYKKP IQEVLKEMTD GGVDFSFEVI GRLDTMMASL LCCHEACGTS VIVGVPPDSQ 300 NLSINPMLLL TGRTWKGAIF GGFKSKESVP KLVADFMAKK FSLDALITNI LPFEKINEGF 360 DLLRSGKSIR TVLTF 375

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
1DDA
1HT0
1U3W

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs781079400	p.Ser2Asn	missense variant	-	NC_000004.12:g.99352671C>T	ExAC,TOPMed,gnomAD
rs1158068945	p.Ala4Ser	missense variant	-	NC_000004.12:g.99352666C>A	TOPMed
rs757117434	p.Ala4Val	missense variant	-	NC_000004.12:g.99352665G>A	ExAC,gnomAD
COSN5029085	p.Gly5Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99352662C>T	NCI-TCGA Cosmic
rs1166680275	p.Val7Ile	missense variant	-	NC_000004.12:g.99347846C>T	gnomAD
COSN23016387	p.Val7Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.99352658T>-	NCI-TCGA Cosmic
rs1272458352	p.Val7Gly	missense variant	-	NC_000004.12:g.99347845A>C	TOPMed
rs746809084	p.Ala13Ser	missense variant	-	NC_000004.12:g.99347828C>A	ExAC,TOPMed,gnomAD
rs746809084	p.Ala13Pro	missense variant	-	NC_000004.12:g.99347828C>G	ExAC,TOPMed,gnomAD
COSN24411239	p.Val14Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347825C>A	NCI-TCGA Cosmic
rs1165738932	p.Trp16Arg	missense variant	-	NC_000004.12:g.99347819A>G	gnomAD
rs1478551212	p.Trp16Ter	stop gained	-	NC_000004.12:g.99347818C>T	gnomAD
COSN5029084	p.Glu17Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347816C>T	NCI-TCGA Cosmic
rs1199384462	p.Leu18Val	missense variant	-	NC_000004.12:g.99347813A>C	gnomAD
rs758391799	p.Leu18Ser	missense variant	-	NC_000004.12:g.99347812A>G	ExAC,gnomAD
rs748223863	p.Lys19Asn	missense variant	-	NC_000004.12:g.99347808C>A	ExAC,TOPMed,gnomAD
rs1181502021	p.Lys20Glu	missense variant	-	NC_000004.12:g.99347807T>C	TOPMed
COSN5029083	p.Pro21Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347804G>A	NCI-TCGA Cosmic
COSN5029082	p.Ser23Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347797G>A	NCI-TCGA Cosmic
rs931089065	p.Ile24Thr	missense variant	-	NC_000004.12:g.99347794A>G	TOPMed
rs779093264	p.Ile24Val	missense variant	-	NC_000004.12:g.99347795T>C	ExAC,gnomAD
COSN8952823	p.Glu28Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347781C>A	NCI-TCGA Cosmic
rs1221712789	p.Glu28Asp	missense variant	-	NC_000004.12:g.99347781C>G	gnomAD
rs368024231	p.Val29Phe	missense variant	-	NC_000004.12:g.99347780C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro32Ser	missense variant	-	NC_000004.12:g.99347771G>A	NCI-TCGA
rs756481534	p.Pro32Leu	missense variant	-	NC_000004.12:g.99347770G>A	ExAC,gnomAD
rs1353697507	p.Ala34Val	missense variant	-	NC_000004.12:g.99347764G>A	gnomAD
rs1173779287	p.Ala34Ser	missense variant	-	NC_000004.12:g.99347765C>A	TOPMed
rs1328957743	p.His35Tyr	missense variant	-	NC_000004.12:g.99347762G>A	gnomAD
COSN8356833	p.Glu36Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347759C>T	NCI-TCGA Cosmic
rs768131391	p.Arg38His	missense variant	-	NC_000004.12:g.99347752C>T	ExAC,TOPMed,gnomAD
rs750873906	p.Arg38Cys	missense variant	-	NC_000004.12:g.99347753G>A	ExAC,TOPMed,gnomAD
rs768131391	p.Arg38Leu	missense variant	-	NC_000004.12:g.99347752C>A	ExAC,TOPMed,gnomAD
rs770875819	p.Ile39Val	missense variant	-	NC_000004.12:g.99347750T>C	TOPMed,gnomAD
rs770875819	p.Ile39Leu	missense variant	-	NC_000004.12:g.99347750T>G	TOPMed,gnomAD
rs770875819	p.Ile39Phe	missense variant	-	NC_000004.12:g.99347750T>A	TOPMed,gnomAD
rs762449854	p.Lys40Asn	missense variant	-	NC_000004.12:g.99347745C>A	ExAC,gnomAD
rs1424807742	p.Met41Thr	missense variant	-	NC_000004.12:g.99347143A>G	TOPMed
rs1242777340	p.Val42Ala	missense variant	-	NC_000004.12:g.99347140A>G	gnomAD
rs1430680244	p.Ala44Val	missense variant	-	NC_000004.12:g.99347134G>A	TOPMed,gnomAD
rs752060970	p.Ala44Thr	missense variant	-	NC_000004.12:g.99347135C>T	ExAC,gnomAD
rs764508784	p.Cys47Ser	missense variant	-	NC_000004.12:g.99347125C>G	ExAC,gnomAD
rs35385902	p.Arg48His	missense variant	-	NC_000004.12:g.99347122C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759025388	p.Arg48Cys	missense variant	-	NC_000004.12:g.99347123G>A	ExAC,TOPMed,gnomAD
rs35385902	p.Arg48Leu	missense variant	-	NC_000004.12:g.99347122C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772973805	p.Glu51Asp	missense variant	-	NC_000004.12:g.99347112C>A	ExAC,TOPMed,gnomAD
rs772973805	p.Glu51Asp	missense variant	-	NC_000004.12:g.99347112C>G	ExAC,TOPMed,gnomAD
rs761544047	p.Val53Met	missense variant	-	NC_000004.12:g.99347108C>T	ExAC,gnomAD
rs757743167	p.Val54Phe	missense variant	-	NC_000004.12:g.99347105C>A	ExAC,TOPMed,gnomAD
rs201365141	p.Ser55Asn	missense variant	-	NC_000004.12:g.99347101C>T	ExAC,TOPMed,gnomAD
rs749381405	p.Ser55Arg	missense variant	-	NC_000004.12:g.99347100A>C	ExAC,gnomAD
rs1452382320	p.Asn57Lys	missense variant	-	NC_000004.12:g.99347094G>C	TOPMed,gnomAD
rs1359192686	p.Thr60Asn	missense variant	-	NC_000004.12:g.99347086G>T	gnomAD
NCI-TCGA novel	p.Thr60Ala	missense variant	-	NC_000004.12:g.99347087T>C	NCI-TCGA
NCI-TCGA novel	p.Leu62PhePheSerTerUnk	frameshift	-	NC_000004.12:g.99347081G>-	NCI-TCGA
NCI-TCGA novel	p.Pro63Ter	frameshift	-	NC_000004.12:g.99347076_99347079AGGA>-	NCI-TCGA
COSN2378825	p.Pro63Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347078G>A	NCI-TCGA Cosmic
rs770118058	p.Val64Ala	missense variant	-	NC_000004.12:g.99347074A>G	ExAC,TOPMed,gnomAD
rs746038367	p.His68Leu	missense variant	-	NC_000004.12:g.99347062T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu69Asp	missense variant	-	NC_000004.12:g.99347058C>A	NCI-TCGA
NCI-TCGA novel	p.Ala71Asp	missense variant	-	NC_000004.12:g.99347053G>T	NCI-TCGA
rs751880475	p.Gly72Ser	missense variant	-	NC_000004.12:g.99347051C>T	ExAC,TOPMed,gnomAD
rs1257068723	p.Gly72Asp	missense variant	-	NC_000004.12:g.99347050C>T	TOPMed,gnomAD
rs751880475	p.Gly72Cys	missense variant	-	NC_000004.12:g.99347051C>A	ExAC,TOPMed,gnomAD
rs753360532	p.Val74Met	missense variant	-	NC_000004.12:g.99347045C>T	ExAC,TOPMed,gnomAD
rs753360532	p.Val74Leu	missense variant	-	NC_000004.12:g.99347045C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu75Lys	missense variant	-	NC_000004.12:g.99347042C>T	NCI-TCGA
NCI-TCGA novel	p.Glu75Asp	missense variant	-	NC_000004.12:g.99347040T>G	NCI-TCGA
COSN4945790	p.Glu75Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347040T>A	NCI-TCGA Cosmic
rs371594597	p.Ser76Gly	missense variant	-	NC_000004.12:g.99347039T>C	ESP,ExAC,TOPMed,gnomAD
rs760204028	p.Ser76Asn	missense variant	-	NC_000004.12:g.99347038C>T	ExAC,gnomAD
rs1290729038	p.Val77Ile	missense variant	-	NC_000004.12:g.99347036C>T	gnomAD
rs750038735	p.Val77Ala	missense variant	-	NC_000004.12:g.99347035A>G	ExAC,gnomAD
rs283413	p.Gly78Ter	stop gained	-	NC_000004.12:g.99347033C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000019812	p.Gly78Ter	nonsense	Parkinson disease, mitochondrial	NC_000004.12:g.99347033C>A	ClinVar
rs283413	p.Gly78Arg	missense variant	-	NC_000004.12:g.99347033C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761613003	p.Glu79Gly	missense variant	-	NC_000004.12:g.99347029T>C	ExAC,gnomAD
rs1381175547	p.Gly80Trp	missense variant	-	NC_000004.12:g.99347027C>A	gnomAD
rs1300664218	p.Val81Leu	missense variant	-	NC_000004.12:g.99347024C>A	gnomAD
COSN5029078	p.Val81Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347024C>T	NCI-TCGA Cosmic
rs914530843	p.Val84Asp	missense variant	-	NC_000004.12:g.99347014A>T	TOPMed
rs571410967	p.Gly87Ala	missense variant	-	NC_000004.12:g.99345266C>G	1000Genomes
rs751345244	p.Asp88Asn	missense variant	-	NC_000004.12:g.99345264C>T	ExAC,TOPMed,gnomAD
rs892129703	p.Asp88Glu	missense variant	-	NC_000004.12:g.99345262A>T	TOPMed,gnomAD
rs1054058556	p.Lys89Glu	missense variant	-	NC_000004.12:g.99345261T>C	TOPMed
COSN5029077	p.Ile91Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99345255T>A	NCI-TCGA Cosmic
rs775497806	p.Pro92Leu	missense variant	-	NC_000004.12:g.99345251G>A	ExAC,TOPMed,gnomAD
rs775497806	p.Pro92Gln	missense variant	-	NC_000004.12:g.99345251G>T	ExAC,TOPMed,gnomAD
rs1405740704	p.Leu93Pro	missense variant	-	NC_000004.12:g.99345248A>G	TOPMed
NCI-TCGA novel	p.Leu93Phe	missense variant	-	NC_000004.12:g.99345249G>A	NCI-TCGA
rs202000818	p.Thr95Ile	missense variant	-	NC_000004.12:g.99345242G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro96Thr	missense variant	-	NC_000004.12:g.99345240G>T	NCI-TCGA
rs771155881	p.Gln97Arg	missense variant	-	NC_000004.12:g.99345236T>C	ExAC,gnomAD
rs1346474268	p.Cys98Ter	stop gained	-	NC_000004.12:g.99345232A>T	TOPMed
rs1444973940	p.Cys101Tyr	missense variant	-	NC_000004.12:g.99345224C>T	gnomAD
rs1306763477	p.Cys101Arg	missense variant	-	NC_000004.12:g.99345225A>G	gnomAD
NCI-TCGA novel	p.Arg102Lys	missense variant	-	NC_000004.12:g.99345221C>T	NCI-TCGA
rs546707394	p.Ile103Val	missense variant	-	NC_000004.12:g.99345219T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1269269947	p.Ile103Met	missense variant	-	NC_000004.12:g.99345217A>C	TOPMed
rs567301265	p.Pro107Thr	missense variant	-	NC_000004.12:g.99345207G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1170791379	p.Pro107Gln	missense variant	-	NC_000004.12:g.99345206G>T	gnomAD
rs748517793	p.Glu108Gly	missense variant	-	NC_000004.12:g.99345203T>C	ExAC,gnomAD
rs1378086954	p.Tyr111His	missense variant	-	NC_000004.12:g.99345195A>G	gnomAD
rs1177814017	p.Tyr111Ter	stop gained	-	NC_000004.12:g.99345193G>C	gnomAD
rs1437523449	p.Leu113Trp	missense variant	-	NC_000004.12:g.99345188A>C	gnomAD
rs181982105	p.Gly118Arg	missense variant	-	NC_000004.12:g.99345077C>G	1000Genomes,ExAC,gnomAD
rs181982105	p.Gly118Ser	missense variant	-	NC_000004.12:g.99345077C>T	1000Genomes,ExAC,gnomAD
rs780641849	p.Gly118Asp	missense variant	-	NC_000004.12:g.99345076C>T	ExAC,gnomAD
rs778298993	p.Pro120Arg	missense variant	-	NC_000004.12:g.99345070G>C	TOPMed
rs778298993	p.Pro120Leu	missense variant	-	NC_000004.12:g.99345070G>A	TOPMed
rs1472863843	p.Arg121Pro	missense variant	-	NC_000004.12:g.99345067C>G	gnomAD
NCI-TCGA novel	p.Arg121Gln	missense variant	-	NC_000004.12:g.99345067C>T	NCI-TCGA
rs770280294	p.Arg121Trp	missense variant	-	NC_000004.12:g.99345068G>A	ExAC,TOPMed,gnomAD
rs1422281589	p.Gly122Val	missense variant	-	NC_000004.12:g.99345064C>A	gnomAD
COSN16301477	p.Gly122Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99345064C>T	NCI-TCGA Cosmic
rs1192195322	p.Leu124Arg	missense variant	-	NC_000004.12:g.99345058A>C	gnomAD
rs777274828	p.Gln125Arg	missense variant	-	NC_000004.12:g.99345055T>C	ExAC,gnomAD
COSN5029074	p.Asp126Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99345053C>T	NCI-TCGA Cosmic
rs758187825	p.Thr128Ile	missense variant	-	NC_000004.12:g.99345046G>A	ExAC,TOPMed,gnomAD
rs758187825	p.Thr128Asn	missense variant	-	NC_000004.12:g.99345046G>T	ExAC,TOPMed,gnomAD
COSN23016386	p.Arg129Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99345043C>T	NCI-TCGA Cosmic
rs1229101854	p.Arg129Ser	missense variant	-	NC_000004.12:g.99345042C>G	gnomAD
rs778903541	p.Arg129Met	missense variant	-	NC_000004.12:g.99345043C>A	ExAC,gnomAD
rs76624281	p.Arg130Thr	missense variant	-	NC_000004.12:g.99345040C>G	ExAC,gnomAD
rs76624281	p.Arg130Lys	missense variant	-	NC_000004.12:g.99345040C>T	ExAC,gnomAD
rs532369179	p.Ser134Arg	missense variant	-	NC_000004.12:g.99345027G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs760614352	p.Gly135Arg	missense variant	-	NC_000004.12:g.99345026C>T	ExAC,TOPMed,gnomAD
rs1270646675	p.Ile138Val	missense variant	-	NC_000004.12:g.99345017T>C	gnomAD
rs762064113	p.His139Gln	missense variant	-	NC_000004.12:g.99345012G>T	ExAC,gnomAD
rs371660994	p.His139Tyr	missense variant	-	NC_000004.12:g.99345014G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774576021	p.His140Leu	missense variant	-	NC_000004.12:g.99345010T>A	ExAC,gnomAD
rs35725608	p.Phe141Leu	missense variant	-	NC_000004.12:g.99345006G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1184420268	p.Phe141Ser	missense variant	-	NC_000004.12:g.99345007A>G	TOPMed
rs376551492	p.Val142Ile	missense variant	-	NC_000004.12:g.99345005C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1015170364	p.Val142Ala	missense variant	-	NC_000004.12:g.99345004A>G	TOPMed
rs746492884	p.Gly143Ser	missense variant	-	NC_000004.12:g.99345002C>T	ExAC,TOPMed,gnomAD
rs78241133	p.Val144Ile	missense variant	-	NC_000004.12:g.99344999C>T	-
rs771826482	p.Ser145Asn	missense variant	-	NC_000004.12:g.99344995C>T	ExAC,gnomAD
rs766776134	p.Gln149Arg	missense variant	-	NC_000004.12:g.99344983T>C	-
rs1222703181	p.Thr151Arg	missense variant	-	NC_000004.12:g.99344977G>C	gnomAD
rs1256353712	p.Asp154His	missense variant	-	NC_000004.12:g.99344969C>G	gnomAD
rs778742207	p.Glu155Ala	missense variant	-	NC_000004.12:g.99344965T>G	ExAC,gnomAD
rs753685476	p.Ala159Thr	missense variant	-	NC_000004.12:g.99344954C>T	ExAC,TOPMed,gnomAD
rs779842455	p.Ala159Gly	missense variant	-	NC_000004.12:g.99344953G>C	ExAC,gnomAD
rs756144588	p.Lys160Arg	missense variant	-	NC_000004.12:g.99344950T>C	ExAC,gnomAD
rs750441233	p.Ile161Thr	missense variant	-	NC_000004.12:g.99344947A>G	ExAC,gnomAD
rs1333702184	p.Ala163Thr	missense variant	-	NC_000004.12:g.99344942C>T	TOPMed
rs541924884	p.Ala164Val	missense variant	-	NC_000004.12:g.99344938G>A	gnomAD
rs1328805621	p.Ser165Pro	missense variant	-	NC_000004.12:g.99344936A>G	gnomAD
NCI-TCGA novel	p.Ser165Leu	missense variant	-	NC_000004.12:g.99344935G>A	NCI-TCGA
rs757356943	p.Pro166Leu	missense variant	-	NC_000004.12:g.99344932G>A	ExAC,gnomAD
rs34195308	p.Pro166Thr	missense variant	-	NC_000004.12:g.99344933G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs34195308	p.Pro166Ser	missense variant	-	NC_000004.12:g.99344933G>A	UniProt,dbSNP
VAR_023993	p.Pro166Ser	missense variant	-	NC_000004.12:g.99344933G>A	UniProt
rs34195308	p.Pro166Ser	missense variant	-	NC_000004.12:g.99344933G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1238324089	p.Glu168Lys	missense variant	-	NC_000004.12:g.99344927C>T	gnomAD
rs1413284579	p.Lys169Asn	missense variant	-	NC_000004.12:g.99344922T>G	TOPMed,gnomAD
rs751713187	p.Lys169Arg	missense variant	-	NC_000004.12:g.99344923T>C	ExAC,gnomAD
rs1243827253	p.Cys171Gly	missense variant	-	NC_000004.12:g.99344918A>C	TOPMed
rs764313136	p.Cys171Phe	missense variant	-	NC_000004.12:g.99344917C>A	ExAC,gnomAD
rs113554896	p.Ile173Thr	missense variant	-	NC_000004.12:g.99344911A>G	ExAC,TOPMed,gnomAD
rs113554896	p.Ile173Ser	missense variant	-	NC_000004.12:g.99344911A>C	ExAC,TOPMed,gnomAD
rs763210161	p.Ile173Phe	missense variant	-	NC_000004.12:g.99344912T>A	ExAC,gnomAD
rs777029507	p.Cys175Trp	missense variant	-	NC_000004.12:g.99344904A>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly176Ter	stop gained	-	NC_000004.12:g.99344903C>A	NCI-TCGA
COSN8356832	p.Gly176Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99344903C>T	NCI-TCGA Cosmic
rs774092660	p.Ser178Leu	missense variant	-	NC_000004.12:g.99344896G>A	ExAC,TOPMed,gnomAD
COSN16303149	p.Tyr181Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99344887T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly182Glu	missense variant	-	NC_000004.12:g.99344884C>T	NCI-TCGA
rs534676738	p.Gly182Trp	missense variant	-	NC_000004.12:g.99344885C>A	1000Genomes,ExAC,gnomAD
rs1444484034	p.Ser183Pro	missense variant	-	NC_000004.12:g.99344882A>G	gnomAD
COSN8952822	p.Ser183Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99344882A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala184Ser	missense variant	-	NC_000004.12:g.99344879C>A	NCI-TCGA
rs1373541559	p.Lys186Asn	missense variant	-	NC_000004.12:g.99344871T>G	gnomAD
rs1001108935	p.Lys186Glu	missense variant	-	NC_000004.12:g.99344873T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val187Phe	missense variant	-	NC_000004.12:g.99344870C>A	NCI-TCGA
rs755985172	p.Ala188Val	missense variant	-	NC_000004.12:g.99344866G>A	ExAC,gnomAD
rs781110621	p.Lys189Glu	missense variant	-	NC_000004.12:g.99344864T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys189Met	missense variant	-	NC_000004.12:g.99344863T>A	NCI-TCGA
COSN1083498	p.Lys189Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99344862C>A	NCI-TCGA Cosmic
rs758427942	p.Val190Phe	missense variant	-	NC_000004.12:g.99343055C>A	ExAC,gnomAD
rs200810515	p.Thr191Ser	missense variant	-	NC_000004.12:g.99343052T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779008943	p.Thr191Asn	missense variant	-	NC_000004.12:g.99343051G>T	ExAC,gnomAD
COSN24408911	p.Pro192Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99343048G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser194Phe	missense variant	-	NC_000004.12:g.99343042G>A	NCI-TCGA
NCI-TCGA novel	p.Ser194Phe	insertion	-	NC_000004.12:g.99343041_99343042insAAG	NCI-TCGA
rs751095026	p.Cys196Gly	missense variant	-	NC_000004.12:g.99343037A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala197Val	missense variant	-	NC_000004.12:g.99343033G>A	NCI-TCGA
rs377645569	p.Gly200Val	missense variant	-	NC_000004.12:g.99343024C>A	ESP,ExAC,TOPMed,gnomAD
rs762371733	p.Leu201Val	missense variant	-	NC_000004.12:g.99343022G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly202Glu	missense variant	-	NC_000004.12:g.99343018C>T	NCI-TCGA
rs78115560	p.Gly203Arg	missense variant	-	NC_000004.12:g.99343016C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly203Trp	missense variant	-	NC_000004.12:g.99343016C>A	NCI-TCGA
rs78115560	p.Gly203Arg	missense variant	-	NC_000004.12:g.99343016C>G	ExAC,gnomAD
rs528886854	p.Val204Leu	missense variant	-	NC_000004.12:g.99343013C>G	1000Genomes,ExAC,gnomAD
rs955883857	p.Gly205Asp	missense variant	-	NC_000004.12:g.99343009C>T	TOPMed
rs74561381	p.Gly205Ser	missense variant	-	NC_000004.12:g.99343010C>T	gnomAD
rs772124828	p.Val208Ile	missense variant	-	NC_000004.12:g.99343001C>T	ExAC,TOPMed,gnomAD
rs748191499	p.Val208Ala	missense variant	-	NC_000004.12:g.99343000A>G	ExAC,TOPMed,gnomAD
rs755222271	p.Met210Thr	missense variant	-	NC_000004.12:g.99342994A>G	ExAC,gnomAD
NCI-TCGA novel	p.Cys212Ser	missense variant	-	NC_000004.12:g.99342989A>T	NCI-TCGA
rs1157583785	p.Ala214Thr	missense variant	-	NC_000004.12:g.99342983C>T	TOPMed
rs1224713673	p.Ala218Thr	missense variant	-	NC_000004.12:g.99342971C>T	gnomAD
rs77199410	p.Ala218Val	missense variant	-	NC_000004.12:g.99342970G>A	ExAC,gnomAD
rs77199410	p.Ala218Asp	missense variant	-	NC_000004.12:g.99342970G>T	ExAC,gnomAD
COSN15658467	p.Arg219Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342967C>A	NCI-TCGA Cosmic
rs930271100	p.Ile220Thr	missense variant	-	NC_000004.12:g.99342964A>G	TOPMed
rs922751507	p.Ile221Val	missense variant	-	NC_000004.12:g.99342962T>C	TOPMed
COSN8952821	p.Ala222Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342958G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp224Asn	missense variant	-	NC_000004.12:g.99342953C>T	NCI-TCGA
rs6413444	p.Asn226Lys	missense variant	-	NC_000004.12:g.99342945G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767919757	p.Asn226Ser	missense variant	-	NC_000004.12:g.99342946T>C	ExAC,gnomAD
rs1228781883	p.Lys229Glu	missense variant	-	NC_000004.12:g.99342938T>C	gnomAD
rs1330942163	p.Lys229Ile	missense variant	-	NC_000004.12:g.99342937T>A	gnomAD
COSN228239	p.Lys229Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342937T>G	NCI-TCGA Cosmic
COSN1083499	p.Lys229Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342936T>G	NCI-TCGA Cosmic
rs764911568	p.Phe230Val	missense variant	-	NC_000004.12:g.99342935A>C	ExAC,TOPMed,gnomAD
rs759235107	p.Phe230Tyr	missense variant	-	NC_000004.12:g.99342934A>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe230Cys	missense variant	-	NC_000004.12:g.99342934A>C	NCI-TCGA
rs1239755638	p.Ala231Ser	missense variant	-	NC_000004.12:g.99342932C>A	TOPMed
COSN14654509	p.Ala233Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342926C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys234Arg	missense variant	-	NC_000004.12:g.99342922T>C	NCI-TCGA
NCI-TCGA novel	p.Glu235Lys	missense variant	-	NC_000004.12:g.99342920C>T	NCI-TCGA
NCI-TCGA novel	p.Glu235Ter	stop gained	-	NC_000004.12:g.99342920C>A	NCI-TCGA
rs770670481	p.Glu235Ala	missense variant	-	NC_000004.12:g.99342919T>G	ExAC,gnomAD
rs773145187	p.Leu236Phe	missense variant	-	NC_000004.12:g.99342915C>G	ExAC,gnomAD
rs773145187	p.Leu236Phe	missense variant	-	NC_000004.12:g.99342915C>A	ExAC,gnomAD
rs369471308	p.Gly237Asp	missense variant	-	NC_000004.12:g.99342913C>T	ESP,ExAC,gnomAD
rs748255747	p.Glu240Ala	missense variant	-	NC_000004.12:g.99342904T>G	ExAC,gnomAD
rs778904475	p.Ile242Val	missense variant	-	NC_000004.12:g.99342899T>C	ExAC,gnomAD
rs768904453	p.Asn243Lys	missense variant	-	NC_000004.12:g.99342894G>T	ExAC,TOPMed,gnomAD
COSN24411241	p.Asp246Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342887C>A	NCI-TCGA Cosmic
rs76534689	p.Asp246Gly	missense variant	-	NC_000004.12:g.99342886T>C	1000Genomes,ExAC,gnomAD
rs1177587007	p.Tyr247Cys	missense variant	-	NC_000004.12:g.99342883T>C	gnomAD
rs1252027509	p.Lys248Arg	missense variant	-	NC_000004.12:g.99342880T>C	gnomAD
COSN1083500	p.Lys248Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342879C>A	NCI-TCGA Cosmic
rs1289542968	p.Lys248Glu	missense variant	-	NC_000004.12:g.99342881T>C	TOPMed
COSN228426	p.Lys249Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342877T>A	NCI-TCGA Cosmic
rs746289093	p.Pro250His	missense variant	-	NC_000004.12:g.99342874G>T	ExAC,gnomAD
rs1201032348	p.Gln252Pro	missense variant	-	NC_000004.12:g.99342868T>G	TOPMed
rs1344966593	p.Lys256Thr	missense variant	-	NC_000004.12:g.99342856T>G	gnomAD
rs1254725879	p.Lys256Asn	missense variant	-	NC_000004.12:g.99342855C>A	gnomAD
COSN5029070	p.Glu257Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342854C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr259Ile	missense variant	-	NC_000004.12:g.99342847G>A	NCI-TCGA
rs79501596	p.Asp260Asn	missense variant	-	NC_000004.12:g.99342845C>T	ExAC,TOPMed,gnomAD
rs79812657	p.Gly262Asp	missense variant	-	NC_000004.12:g.99342838C>T	gnomAD
rs1005267020	p.Ser266Leu	missense variant	-	NC_000004.12:g.99342826G>A	TOPMed,gnomAD
rs545631323	p.Phe267Leu	missense variant	-	NC_000004.12:g.99342822A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1395485774	p.Glu268Ter	stop gained	-	NC_000004.12:g.99342821C>A	gnomAD
rs766035972	p.Val269Ile	missense variant	-	NC_000004.12:g.99342818C>T	ExAC,gnomAD
rs375107720	p.Ile270Met	missense variant	-	NC_000004.12:g.99342813G>C	ESP,ExAC,TOPMed,gnomAD
rs372087418	p.Gly271Ser	missense variant	-	NC_000004.12:g.99342812C>T	ESP,ExAC,TOPMed,gnomAD
rs1395450124	p.Arg272Trp	missense variant	-	NC_000004.12:g.99342809G>A	TOPMed,gnomAD
RCV000019810	p.Arg272Gln	missense variant	Alcohol dependence	NC_000004.12:g.99342808C>T	ClinVar
rs1693482	p.Arg272Gln	missense variant	-	NC_000004.12:g.99342808C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1693482	p.Arg272Gln	missense variant	-	NC_000004.12:g.99342808C>T	UniProt,dbSNP
VAR_000428	p.Arg272Gln	missense variant	-	NC_000004.12:g.99342808C>T	UniProt
rs78836241	p.Met276Thr	missense variant	-	NC_000004.12:g.99342796A>G	-
COSN5029064	p.Leu280Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99340701G>T	NCI-TCGA Cosmic
rs1404410224	p.Leu280Arg	missense variant	-	NC_000004.12:g.99340700A>C	TOPMed,gnomAD
COSN24411242	p.Cys282Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99340695A>G	NCI-TCGA Cosmic
rs951933118	p.Cys283Arg	missense variant	-	NC_000004.12:g.99340692A>G	TOPMed
rs1423604859	p.Gly288Asp	missense variant	-	NC_000004.12:g.99340676C>T	gnomAD
rs779588834	p.Thr289Arg	missense variant	-	NC_000004.12:g.99340673G>C	ExAC,TOPMed,gnomAD
rs1384383040	p.Thr289Ala	missense variant	-	NC_000004.12:g.99340674T>C	TOPMed
rs1476631183	p.Ser290Arg	missense variant	-	NC_000004.12:g.99340669A>C	TOPMed,gnomAD
rs1243038295	p.Val291Phe	missense variant	-	NC_000004.12:g.99340668C>A	gnomAD
rs1408118183	p.Ile292Thr	missense variant	-	NC_000004.12:g.99340664A>G	gnomAD
rs200253359	p.Ile292Phe	missense variant	-	NC_000004.12:g.99340665T>A	ESP,ExAC,TOPMed,gnomAD
rs780905591	p.Val293Leu	missense variant	-	NC_000004.12:g.99340662C>A	ExAC,TOPMed,gnomAD
rs1214454664	p.Val293Ala	missense variant	-	NC_000004.12:g.99340661A>G	gnomAD
rs751435373	p.Val295Leu	missense variant	-	NC_000004.12:g.99340656C>G	ExAC,gnomAD
rs1020582861	p.Val295Ala	missense variant	-	NC_000004.12:g.99340655A>G	TOPMed
COSN5029063	p.Val295Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99340656C>T	NCI-TCGA Cosmic
COSN5029062	p.Pro296Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99340652G>A	NCI-TCGA Cosmic
rs1255155178	p.Pro297Ser	missense variant	-	NC_000004.12:g.99340650G>A	TOPMed
rs1212726831	p.Asp298Ala	missense variant	-	NC_000004.12:g.99340646T>G	gnomAD
rs764088804	p.Ser299Phe	missense variant	-	NC_000004.12:g.99340643G>A	ExAC,gnomAD
rs1270557545	p.Gln300Lys	missense variant	-	NC_000004.12:g.99340641G>T	gnomAD
NCI-TCGA novel	p.Gln300His	missense variant	-	NC_000004.12:g.99340639C>A	NCI-TCGA
rs752703547	p.Ser303Leu	missense variant	-	NC_000004.12:g.99340631G>A	ExAC,gnomAD
rs765368147	p.Asn305Lys	missense variant	-	NC_000004.12:g.99340624G>T	ExAC,gnomAD
rs759663608	p.Pro306Ser	missense variant	-	NC_000004.12:g.99340623G>A	ExAC,gnomAD
rs759663608	p.Pro306Ala	missense variant	-	NC_000004.12:g.99340623G>C	ExAC,gnomAD
rs571087290	p.Met307Val	missense variant	-	NC_000004.12:g.99340620T>C	ExAC,gnomAD
rs571087290	p.Met307Leu	missense variant	-	NC_000004.12:g.99340620T>G	ExAC,gnomAD
rs372958457	p.Leu310Pro	missense variant	-	NC_000004.12:g.99340610A>G	ESP,ExAC,TOPMed,gnomAD
rs369383827	p.Thr311Asn	missense variant	-	NC_000004.12:g.99340607G>T	ESP,ExAC,TOPMed,gnomAD
rs779431549	p.Arg313Cys	missense variant	-	NC_000004.12:g.99340602G>A	ExAC,TOPMed,gnomAD
rs769121542	p.Arg313His	missense variant	-	NC_000004.12:g.99340601C>T	ExAC,TOPMed,gnomAD
rs778107991	p.Thr314Met	missense variant	-	NC_000004.12:g.99340598G>A	ExAC,TOPMed,gnomAD
COSN8356830	p.Trp315Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.99340594C>T	NCI-TCGA Cosmic
rs1206631658	p.Lys316Arg	missense variant	-	NC_000004.12:g.99340592T>C	gnomAD
rs1008144881	p.Gly317Arg	missense variant	-	NC_000004.12:g.99340590C>T	TOPMed
COSN1083501	p.Gly317Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.99340590C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala318Thr	missense variant	-	NC_000004.12:g.99340587C>T	NCI-TCGA
rs1273572942	p.Ile319Val	missense variant	-	NC_000004.12:g.99340584T>C	gnomAD
rs751373066	p.Phe320Ser	missense variant	-	NC_000004.12:g.99340580A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly321Glu	missense variant	-	NC_000004.12:g.99340577C>T	NCI-TCGA
NCI-TCGA novel	p.Gly321Ter	stop gained	-	NC_000004.12:g.99340578C>A	NCI-TCGA
rs1373426441	p.Lys324Gln	missense variant	-	NC_000004.12:g.99339710T>G	gnomAD
rs866370741	p.Lys324Asn	missense variant	-	NC_000004.12:g.99339708C>G	gnomAD
rs866370741	p.Lys324Asn	missense variant	-	NC_000004.12:g.99339708C>A	gnomAD
rs1413491725	p.Ser325Cys	missense variant	-	NC_000004.12:g.99339707T>A	gnomAD
NCI-TCGA novel	p.Glu327Ter	stop gained	-	NC_000004.12:g.99339701C>A	NCI-TCGA
COSN1083502	p.Glu327Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339701C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser328Phe	missense variant	-	NC_000004.12:g.99339697G>A	NCI-TCGA
rs1419431885	p.Val329Ala	missense variant	-	NC_000004.12:g.99339694A>G	gnomAD
rs746619940	p.Val329Phe	missense variant	-	NC_000004.12:g.99339695C>A	ExAC,gnomAD
rs746619940	p.Val329Ile	missense variant	-	NC_000004.12:g.99339695C>T	ExAC,gnomAD
rs777571987	p.Lys331Arg	missense variant	-	NC_000004.12:g.99339688T>C	ExAC,gnomAD
rs758208056	p.Ala334Ser	missense variant	-	NC_000004.12:g.99339680C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala338Thr	missense variant	-	NC_000004.12:g.99339668C>T	NCI-TCGA
rs1474185764	p.Lys340Thr	missense variant	-	NC_000004.12:g.99339661T>G	gnomAD
rs1259473057	p.Ser342Ala	missense variant	-	NC_000004.12:g.99339656A>C	gnomAD
rs1429525275	p.Ala345Thr	missense variant	-	NC_000004.12:g.99339647C>T	TOPMed
rs1174582777	p.Ala345Val	missense variant	-	NC_000004.12:g.99339646G>A	TOPMed
NCI-TCGA novel	p.Ala345Glu	missense variant	-	NC_000004.12:g.99339646G>T	NCI-TCGA
rs1487825180	p.Ile347Lys	missense variant	-	NC_000004.12:g.99339640A>T	gnomAD
rs698	p.Ile350Phe	missense variant	-	NC_000004.12:g.99339632T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs698	p.Ile350Val	missense variant	-	NC_000004.12:g.99339632T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000019811	p.Ile350Val	missense variant	Alcohol dependence	NC_000004.12:g.99339632T>C	ClinVar
rs35719513	p.Pro352Thr	missense variant	-	NC_000004.12:g.99339626G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs540917301	p.Glu354Gly	missense variant	-	NC_000004.12:g.99339619T>C	gnomAD
COSN5029057	p.Glu354Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339620C>T	NCI-TCGA Cosmic
rs1339340687	p.Ile356Val	missense variant	-	NC_000004.12:g.99339614T>C	TOPMed
rs1431101020	p.Asn357Ile	missense variant	-	NC_000004.12:g.99339610T>A	TOPMed
NCI-TCGA novel	p.Asn357Lys	inframe deletion	-	NC_000004.12:g.99339607_99339609TCA>-	NCI-TCGA
COSN20067891	p.Gly359Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339604C>T	NCI-TCGA Cosmic
rs1296357260	p.Gly359Val	missense variant	-	NC_000004.12:g.99339604C>A	gnomAD
rs756221299	p.Phe360Ser	missense variant	-	NC_000004.12:g.99339601A>G	ExAC,TOPMed,gnomAD
COSN1083503	p.Phe360Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339601A>C	NCI-TCGA Cosmic
rs950884208	p.Asp361Asn	missense variant	-	NC_000004.12:g.99339599C>T	TOPMed,gnomAD
rs750582235	p.Asp361Gly	missense variant	-	NC_000004.12:g.99339598T>C	ExAC,gnomAD
rs950884208	p.Asp361His	missense variant	-	NC_000004.12:g.99339599C>G	TOPMed,gnomAD
rs767743596	p.Asp361Glu	missense variant	-	NC_000004.12:g.99339597G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu362Pro	missense variant	-	NC_000004.12:g.99339595A>G	NCI-TCGA
rs56247447	p.Arg364His	missense variant	-	NC_000004.12:g.99339589C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs569012082	p.Arg364Cys	missense variant	-	NC_000004.12:g.99339590G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg364Leu	missense variant	-	NC_000004.12:g.99339589C>A	NCI-TCGA
COSN1083504	p.Ser365Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339586G>C	NCI-TCGA Cosmic
rs1349448514	p.Ser365Pro	missense variant	-	NC_000004.12:g.99339587A>G	gnomAD
rs775889514	p.Ser368Gly	missense variant	-	NC_000004.12:g.99339578T>C	ExAC,gnomAD
COSN24411243	p.Ser368Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339578T>A	NCI-TCGA Cosmic
COSN158133	p.Ile369Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99336775T>C	NCI-TCGA Cosmic
rs67420531	p.Arg370Gly	missense variant	-	NC_000004.12:g.99336772G>C	ExAC,TOPMed,gnomAD
rs757354662	p.Arg370His	missense variant	-	NC_000004.12:g.99336771C>T	ExAC,TOPMed,gnomAD
rs757354662	p.Arg370Leu	missense variant	-	NC_000004.12:g.99336771C>A	ExAC,TOPMed,gnomAD
rs67420531	p.Arg370Cys	missense variant	-	NC_000004.12:g.99336772G>A	ExAC,TOPMed,gnomAD
rs777871146	p.Thr371Ala	missense variant	-	NC_000004.12:g.99336769T>C	ExAC,gnomAD
rs1228670926	p.Thr371Ile	missense variant	-	NC_000004.12:g.99336768G>A	NCI-TCGA Cosmic
rs1228670926	p.Thr371Ile	missense variant	-	NC_000004.12:g.99336768G>A	TOPMed,gnomAD
rs760170468	p.Val372Gly	missense variant	-	NC_000004.12:g.99336765A>C	ExAC,gnomAD
rs370818269	p.Val372Phe	missense variant	-	NC_000004.12:g.99336766C>A	ESP,ExAC,TOPMed,gnomAD
rs370818269	p.Val372Ile	missense variant	-	NC_000004.12:g.99336766C>T	ESP,ExAC,TOPMed,gnomAD
rs370818269	p.Val372Ile	missense variant	-	NC_000004.12:g.99336766C>T	NCI-TCGA,NCI-TCGA Cosmic
rs572227882	p.Thr374Met	missense variant	-	NC_000004.12:g.99336759G>A	1000Genomes,ExAC,gnomAD
rs572227882	p.Thr374Met	missense variant	-	NC_000004.12:g.99336759G>A	NCI-TCGA
rs572227882	p.Thr374Lys	missense variant	-	NC_000004.12:g.99336759G>T	1000Genomes,ExAC,gnomAD
rs1462367189	p.Phe375Leu	missense variant	-	NC_000004.12:g.99336755A>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE;LHGDN
C0001956	Alcohol Use Disorder	disease	BEFREE;CTD_human
C0001969	Alcoholic Intoxication	disease	BEFREE;PSYGENET
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE;CTD_human;GWASCAT;PSYGENET
C0004114	Astrocytoma	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007107	Malignant neoplasm of larynx	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	LHGDN
C0007222	Cardiovascular Diseases	group	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE;LHGDN
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013146	Drug abuse	disease	BEFREE
C0013295	Duodenal Ulcer	disease	BEFREE
C0014859	Esophageal Neoplasms	group	BEFREE
C0016382	Flushing	phenotype	BEFREE
C0023055	Laryngeal neoplasm	disease	LHGDN
C0023890	Liver Cirrhosis	disease	BEFREE
C0023891	Liver Cirrhosis, Alcoholic	disease	BEFREE
C0023893	Liver Cirrhosis, Experimental	disease	CTD_mouse
C0023895	Liver diseases	group	BEFREE
C0023896	Alcoholic Liver Diseases	group	BEFREE
C0024121	Lung Neoplasms	group	LHGDN
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0026640	Mouth Neoplasms	group	CTD_human
C0027051	Myocardial Infarction	disease	BEFREE
C0028043	Nicotine Dependence	disease	BEFREE
C0030305	Pancreatitis	disease	BEFREE
C0030567	Parkinson Disease	disease	BEFREE;LHGDN
C0032584	polyps	phenotype	BEFREE
C0038454	Cerebrovascular accident	group	BEFREE
C0042721	Viral hepatitis	group	BEFREE
C0085762	Alcohol abuse	disease	BEFREE;CTD_human;PSYGENET
C0149521	Pancreatitis, Chronic	disease	BEFREE
C0151744	Myocardial Ischemia	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0153381	Malignant neoplasm of mouth	disease	BEFREE;CTD_human
C0153382	Malignant neoplasm of oropharynx	disease	BEFREE
C0153405	Malignant neoplasm of pharynx	disease	BEFREE
C0162309	Adrenoleukodystrophy	disease	BEFREE
C0206677	Adenomatous Polyps	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0220810	Congenital defects	group	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0264408	Childhood asthma	disease	BEFREE
C0271650	Impaired glucose tolerance	phenotype	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0343641	Human papilloma virus infection	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376670	Pancreatitis, Alcoholic	disease	BEFREE
C0394006	Dysequilibrium syndrome	disease	BEFREE
C0426576	Gastrointestinal symptom	phenotype	BEFREE
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0595989	Carcinoma of larynx	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0683357	Excessive drinking	phenotype	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0687132	heavy drinking	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0747548	Pharyngeal Carcinoma	disease	BEFREE
C0810031	alcohol-related liver disease	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1458155	Mammary Neoplasms	group	LHGDN
C1527249	Colorectal Cancer	disease	BEFREE
C1623038	Cirrhosis	disease	BEFREE
C1837217	Cleft lip, isolated	disease	BEFREE
C1838867	PARKINSON DISEASE, MITOCHONDRIAL (disorder)	disease	CLINVAR
C1956346	Coronary Artery Disease	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2349952	Oropharyngeal Carcinoma	disease	BEFREE
C3160718	PARKINSON DISEASE, LATE-ONSET	disease	CTD_human
C4048195	Autosomal dominant hypocalcemia	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004022	alcohol dehydrogenase (NAD+) activity	IDA
GO:0004024	alcohol dehydrogenase activity, zinc-dependent	IBA
GO:0004745	retinol dehydrogenase activity	IBA
GO:0008270	zinc ion binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006069	ethanol oxidation	IBA
GO:0006069	ethanol oxidation	IDA
GO:0006069	ethanol oxidation	TAS
GO:0042572	retinol metabolic process	IBA
GO:0042573	retinoic acid metabolic process	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	IBA
GO:0005829	cytosol	TAS
GO:0005886	plasma membrane	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-211859	Biological oxidations	TAS
R-HSA-211945	Phase I - Functionalization of compounds	TAS
R-HSA-5362517	Signaling by Retinoic Acid	TAS
R-HSA-5365859	RA biosynthesis pathway	TAS
R-HSA-71384	Ethanol oxidation	TAS
R-HSA-9006931	Signaling by Nuclear Receptors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of ADH1C mRNA	28628672
D019840	2-Propanol	ADH1C protein results in increased oxidation of 2-Propanol	21167143
C549543	3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid analog results in decreased expression of ADH1C mRNA	25716159
C029370	4-toluidine	4-toluidine results in increased expression of ADH1C mRNA	27638505
C496492	abrine	abrine results in decreased expression of ADH1C mRNA	31054353
D000079	Acetaldehyde	[ADH1C protein results in increased metabolism of Ethanol] which results in increased chemical synthesis of Acetaldehyde	15138216
D000082	Acetaminophen	Acetaminophen results in decreased expression of ADH1C mRNA	21420995
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of ADH1C protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of ADH1C mRNA	27153756
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of ADH1C mRNA	21757418
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of ADH1C gene	25435355
C006780	bisphenol A	bisphenol A results in increased expression of ADH1C mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of ADH1C mRNA	28079927
C006780	bisphenol A	bisphenol A results in decreased expression of ADH1C mRNA	22842222; 25181051;
D000077300	Bosentan	Bosentan results in decreased expression of ADH1C mRNA	29761207
D000077300	Bosentan	Bosentan results in decreased expression of ADH1C protein	29761207
D002927	Cimetidine	Cimetidine inhibits the reaction [ADH1C protein results in increased oxidation of Ethanol]	23220590
D003300	Copper	Copper results in increased expression of ADH1C mRNA	24403277
D016572	Cyclosporine	Cyclosporine results in decreased expression of ADH1C mRNA	20106945
D003907	Dexamethasone	Dexamethasone results in increased expression of ADH1C mRNA	25047013
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of ADH1C mRNA	28628672
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of ADH1C mRNA	26924002
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of ADH1C mRNA	30102407
C024629	dimethyl phthalate	dimethyl phthalate results in decreased expression of ADH1C mRNA	26924002
D004726	Endosulfan	[Endosulfan co-treated with Tetrachlorodibenzodioxin] results in decreased expression of ADH1C mRNA	26159488
D004958	Estradiol	Estradiol results in decreased expression of ADH1C mRNA	20106945
D000431	Ethanol	ADH1C gene polymorphism affects the susceptibility to Ethanol	20171022
D000431	Ethanol	ADH1C protein results in increased metabolism of Ethanol	15138216; 19822198;
D000431	Ethanol	[ADH1C protein results in increased metabolism of Ethanol] which results in increased chemical synthesis of Acetaldehyde	15138216
D000431	Ethanol	ADH1C protein results in increased oxidation of Ethanol	21167143; 23220590;
D000431	Ethanol	Cimetidine inhibits the reaction [ADH1C protein results in increased oxidation of Ethanol]	23220590
D000431	Ethanol	Ethanol results in increased expression of ADH1C mRNA	23300006
D000431	Ethanol	Fomepizole inhibits the reaction [ADH1C protein results in increased oxidation of Ethanol]	21167143
D000431	Ethanol	Pentachlorophenol inhibits the reaction [ADH1C protein results in increased metabolism of Ethanol]	19822198
D000431	Ethanol	Ethanol results in decreased expression of ADH1C protein	23200777
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of ADH1C mRNA	23129252
D019855	Ethylene Glycol	ADH1C protein results in increased oxidation of Ethylene Glycol	21167143
D011345	Fenofibrate	Fenofibrate results in decreased expression of ADH1C mRNA	25572481
D017313	Fenretinide	Fenretinide results in increased expression of ADH1C mRNA	28973697
D000077604	Fomepizole	Fomepizole inhibits the reaction [ADH1C protein results in increased oxidation of Ethanol]	21167143
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of ADH1C mRNA	28628672
C052901	lemongrass oil	lemongrass oil affects the expression of ADH1C mRNA	25976427
C052901	lemongrass oil	lemongrass oil results in decreased expression of ADH1C mRNA	25660481
D000432	Methanol	ADH1C protein results in increased oxidation of Methanol	21167143
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of ADH1C mRNA	26924002
C014129	N-nitrosodiethanolamine	N-nitrosodiethanolamine results in decreased expression of ADH1C mRNA	30102407
C464660	obeticholic acid	obeticholic acid results in decreased expression of ADH1C mRNA	27939613
D009853	Omeprazole	Omeprazole results in decreased expression of ADH1C mRNA	12040753
D010042	Ouabain	Ouabain affects the expression of ADH1C protein	17268060
D010100	Oxygen	Oxygen deficiency results in decreased expression of ADH1C mRNA	19695866
D010416	Pentachlorophenol	Pentachlorophenol inhibits the reaction [ADH1C protein results in increased metabolism of Ethanol]	19822198
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in decreased expression of ADH1C mRNA	23602845
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of ADH1C mRNA	27153767
D011374	Progesterone	Progesterone results in increased expression of ADH1C mRNA	20864642
C005556	propionaldehyde	propionaldehyde results in decreased expression of ADH1C mRNA	26079696
D012293	Rifampin	Rifampin results in increased expression of ADH1C mRNA	12040753
D012402	Rotenone	Rotenone results in decreased expression of ADH1C mRNA	29955902
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of ADH1C mRNA	25895662
C017947	sodium arsenite	sodium arsenite results in decreased expression of ADH1C mRNA	29301061
D013605	T-2 Toxin	T-2 Toxin results in increased expression of ADH1C mRNA	31299295
D013749	Tetrachlorodibenzodioxin	[Endosulfan co-treated with Tetrachlorodibenzodioxin] results in decreased expression of ADH1C mRNA	26159488
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ADH1C mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ADH1C mRNA	20106945; 26159488;
D014212	Tretinoin	Tretinoin results in increased expression of ADH1C mRNA	23830798
D014260	Triclosan	Triclosan results in decreased expression of ADH1C protein	30219713
D014260	Triclosan	Triclosan results in increased expression of ADH1C mRNA	29596926
D014260	Triclosan	Triclosan results in increased expression of ADH1C protein	30219713
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of ADH1C mRNA	26179874
D000077288	Troglitazone	Troglitazone results in decreased expression of ADH1C mRNA	25572481
D014635	Valproic Acid	Valproic Acid results in decreased expression of ADH1C mRNA	29154799; 29501571;
D014635	Valproic Acid	Valproic Acid results in decreased expression of ADH1C protein	29501571
C574123	walrycin A	walrycin A results in increased expression of ADH1C mRNA	22314385
D015032	Zinc	Zinc deficiency results in decreased expression of ADH1C mRNA	12672911

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0963	Cytoplasm
KW-0903	Direct protein sequencing
KW-0479	Metal-binding
KW-0520	NAD
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0862	Zinc

Interpro

InterPro ID	InterPro Term
IPR013149	ADH_C
IPR013154	ADH_N
IPR002328	ADH_Zn_CS
IPR011032	GroES-like_sf
IPR036291	NAD(P)-bd_dom_sf
IPR020843	PKS_ER

PROSITE

PROSITE ID	PROSITE Term
PS00059	ADH_ZINC

Pfam

Pfam ID	Pfam Term
PF08240	ADH_N
PF00107	ADH_zinc_N

Gene: ADH1C

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

There is no orthologous record for this gene !

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