CleftGeneDB-Search

Gene: NECTIN3

Basic information

Tag	Content
Uniprot ID	Q9NQS3; E9PFR0; Q6NVZ3; Q8NC05; Q8WVU4; Q9BVA9; Q9Y412;
Entrez ID	25945
Genbank protein ID	AAF97597.1; BAC11404.1; AAH67808.1; CAB43256.1; AAH01336.1; AAH17572.1;
Genbank nucleotide ID	NM_001243286.1; NM_015480.2; NM_001243288.1;
Ensembl protein ID	ENSP00000420579; ENSP00000418070; ENSP00000321514;
Ensembl nucleotide ID	ENSG00000177707
Gene name	Nectin-3
Gene symbol	NECTIN3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26868259
Functional description	Plays a role in cell-cell adhesion through heterophilic trans-interactions with nectin-like proteins or nectins, such as trans-interaction with NECTIN2 at Sertoli-spermatid junctions. Trans-interaction with PVR induces activation of CDC42 and RAC small G proteins through common signaling molecules such as SRC and RAP1. Also involved in the formation of cell-cell junctions, including adherens junctions and synapses. Induces endocytosis-mediated down-regulation of PVR from the cell surface, resulting in reduction of cell movement and proliferation. Plays a role in the morphology of the ciliary body.
Sequence	MARTLRPSPL CPGGGKAQLS SASLLGAGLL LQPPTPPPLL LLLFPLLLFS RLCGALAGPI 60 IVEPHVTAVW GKNVSLKCLI EVNETITQIS WEKIHGKSSQ TVAVHHPQYG FSVQGEYQGR 120 VLFKNYSLND ATITLHNIGF SDSGKYICKA VTFPLGNAQS STTVTVLVEP TVSLIKGPDS 180 LIDGGNETVA AICIAATGKP VAHIDWEGDL GEMESTTTSF PNETATIISQ YKLFPTRFAR 240 GRRITCVVKH PALEKDIRYS FILDIQYAPE VSVTGYDGNW FVGRKGVNLK CNADANPPPF 300 KSVWSRLDGQ WPDGLLASDN TLHFVHPLTF NYSGVYICKV TNSLGQRSDQ KVIYISDPPT 360 TTTLQPTIQW HPSTADIEDL ATEPKKLPFP LSTLATIKDD TIATIIASVV GGALFIVLVS 420 VLAGIFCYRR RRTFRGDYFA KNYIPPSDMQ KESQIDVLQQ DELDSYPDSV KKENKNPVNN 480 LIRKDYLEEP EKTQWNNVEN LNRFERPMDY YEDLKMGMKF VSDEHYDENE DDLVSHVDGS 540 VISRREWYV 549

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.

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	NECTIN3	25945	Q9NQS3	Homo sapiens	Publication	More>>
1:1 ortholog	Nectin3	58998	Q9JLB9	Mus musculus	Prediction	More>>
1:1 ortholog	NECTIN3	742869	H2QN30	Pan troglodytes	Prediction	More>>
1:1 ortholog	Nectin3	288124	D4A5C0	Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1007426680	p.Arg3Gly	missense variant	-	NC_000003.12:g.111072024C>G	TOPMed
rs767788694	p.Thr4Asn	missense variant	-	NC_000003.12:g.111072028C>A	ExAC,TOPMed,gnomAD
rs1235532043	p.Pro7Arg	missense variant	-	NC_000003.12:g.111072037C>G	gnomAD
rs1212039975	p.Pro7Ser	missense variant	-	NC_000003.12:g.111072036C>T	gnomAD
rs372423621	p.Ser8Tyr	missense variant	-	NC_000003.12:g.111072040C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1194346576	p.Pro9Gln	missense variant	-	NC_000003.12:g.111072043C>A	gnomAD
rs1194346576	p.Pro9Leu	missense variant	-	NC_000003.12:g.111072043C>T	gnomAD
rs1264650947	p.Leu10Pro	missense variant	-	NC_000003.12:g.111072046T>C	TOPMed,gnomAD
rs1362211495	p.Pro12Leu	missense variant	-	NC_000003.12:g.111072052C>T	gnomAD
rs1009912215	p.Pro12Ser	missense variant	-	NC_000003.12:g.111072051C>T	TOPMed,gnomAD
rs1425515374	p.Gly13Arg	missense variant	-	NC_000003.12:g.111072054G>A	gnomAD
rs1219949704	p.Gly15Asp	missense variant	-	NC_000003.12:g.111072061G>A	gnomAD
rs1321257802	p.Gly15Cys	missense variant	-	NC_000003.12:g.111072060G>T	TOPMed
rs1414651026	p.Leu19Arg	missense variant	-	NC_000003.12:g.111072073T>G	gnomAD
rs1021668826	p.Ser20Phe	missense variant	-	NC_000003.12:g.111072076C>T	TOPMed,gnomAD
rs968408090	p.Ser21Pro	missense variant	-	NC_000003.12:g.111072078T>C	TOPMed,gnomAD
rs968408090	p.Ser21Ala	missense variant	-	NC_000003.12:g.111072078T>G	TOPMed,gnomAD
rs1276200630	p.Ala22Val	missense variant	-	NC_000003.12:g.111072082C>T	gnomAD
rs144247865	p.Ala22Thr	missense variant	-	NC_000003.12:g.111072081G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754344010	p.Ser23Phe	missense variant	-	NC_000003.12:g.111072085C>T	ExAC,gnomAD
rs1217225030	p.Leu24Val	missense variant	-	NC_000003.12:g.111072087C>G	TOPMed,gnomAD
rs1288129014	p.Leu24His	missense variant	-	NC_000003.12:g.111072088T>A	gnomAD
rs1217225030	p.Leu24Phe	missense variant	-	NC_000003.12:g.111072087C>T	TOPMed,gnomAD
rs199677974	p.Leu25Val	missense variant	-	NC_000003.12:g.111072090C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199677974	p.Leu25Ile	missense variant	-	NC_000003.12:g.111072090C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs557315188	p.Ala27Gly	missense variant	-	NC_000003.12:g.111072097C>G	1000Genomes,ExAC,gnomAD
rs994349507	p.Leu29Phe	missense variant	-	NC_000003.12:g.111072102C>T	gnomAD
rs1216092261	p.Leu29Arg	missense variant	-	NC_000003.12:g.111072103T>G	TOPMed
rs1026711299	p.Pro33Ser	missense variant	-	NC_000003.12:g.111072114C>T	TOPMed,gnomAD
rs1438821689	p.Pro33Arg	missense variant	-	NC_000003.12:g.111072115C>G	gnomAD
COSM1417694	p.Pro34ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111072114C>-	NCI-TCGA Cosmic
rs1301590732	p.Pro34Ala	missense variant	-	NC_000003.12:g.111072117C>G	gnomAD
rs1369937785	p.Pro34Arg	missense variant	-	NC_000003.12:g.111072118C>G	gnomAD
rs1240690449	p.Thr35Ala	missense variant	-	NC_000003.12:g.111072120A>G	gnomAD
rs1298581473	p.Pro37Leu	missense variant	-	NC_000003.12:g.111072127C>T	TOPMed
rs1351343732	p.Pro37Ser	missense variant	-	NC_000003.12:g.111072126C>T	TOPMed,gnomAD
rs577495163	p.Pro38Arg	missense variant	-	NC_000003.12:g.111072130C>G	1000Genomes,TOPMed
rs577495163	p.Pro38Leu	missense variant	-	NC_000003.12:g.111072130C>T	1000Genomes,TOPMed
rs1204483580	p.Pro38Ser	missense variant	-	NC_000003.12:g.111072129C>T	gnomAD
NCI-TCGA novel	p.Leu39Pro	missense variant	-	NC_000003.12:g.111072133T>C	NCI-TCGA
rs746689632	p.Leu40Val	missense variant	-	NC_000003.12:g.111072135C>G	ExAC,gnomAD
rs1454095387	p.Leu42Pro	missense variant	-	NC_000003.12:g.111072142T>C	gnomAD
rs1382555236	p.Phe44Leu	missense variant	-	NC_000003.12:g.111072149C>A	TOPMed,gnomAD
rs200790665	p.Pro45Ser	missense variant	-	NC_000003.12:g.111072150C>T	ESP,ExAC,TOPMed,gnomAD
rs1158522406	p.Pro45Leu	missense variant	-	NC_000003.12:g.111072151C>T	gnomAD
rs1333041875	p.Ser50Pro	missense variant	-	NC_000003.12:g.111072165T>C	gnomAD
rs1284749074	p.Arg51Thr	missense variant	-	NC_000003.12:g.111072169G>C	gnomAD
rs1357843369	p.Arg51Ser	missense variant	-	NC_000003.12:g.111072170G>T	gnomAD
rs1238213906	p.Arg51Gly	missense variant	-	NC_000003.12:g.111072168A>G	TOPMed,gnomAD
rs542134138	p.Leu52Ile	missense variant	-	NC_000003.12:g.111072171C>A	TOPMed,gnomAD
rs542134138	p.Leu52Val	missense variant	-	NC_000003.12:g.111072171C>G	TOPMed,gnomAD
rs1271999736	p.Leu52Pro	missense variant	-	NC_000003.12:g.111072172T>C	gnomAD
rs542134138	p.Leu52Phe	missense variant	-	NC_000003.12:g.111072171C>T	TOPMed,gnomAD
rs942704126	p.Cys53Arg	missense variant	-	NC_000003.12:g.111072174T>C	TOPMed
rs1455011236	p.Ala55Thr	missense variant	-	NC_000003.12:g.111112032G>A	gnomAD
rs544009917	p.Ala55Val	missense variant	-	NC_000003.12:g.111112033C>T	TOPMed
rs771045467	p.Ala57Val	missense variant	-	NC_000003.12:g.111112039C>T	ExAC,gnomAD
rs747000031	p.Ala57Thr	missense variant	-	NC_000003.12:g.111112038G>A	ExAC,gnomAD
rs1319019714	p.Ile60Val	missense variant	-	NC_000003.12:g.111112047A>G	TOPMed,gnomAD
rs746123789	p.Val62Ala	missense variant	-	NC_000003.12:g.111112054T>C	ExAC,gnomAD
rs776675701	p.Val62Leu	missense variant	-	NC_000003.12:g.111112053G>C	ExAC,TOPMed,gnomAD
rs1269868004	p.Glu63Val	missense variant	-	NC_000003.12:g.111112057A>T	gnomAD
COSM1036199	p.His65Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111112062C>T	NCI-TCGA Cosmic
rs770260933	p.Ala68Thr	missense variant	-	NC_000003.12:g.111112071G>A	ExAC,gnomAD
rs776037424	p.Gly71Ala	missense variant	-	NC_000003.12:g.111112081G>C	ExAC,TOPMed,gnomAD
rs763550976	p.Lys72Asn	missense variant	-	NC_000003.12:g.111112085G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn73ThrPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.111112086_111112087insCTGAGGTAGAAGATTCAGTTACATC	NCI-TCGA
rs764757077	p.Lys77Arg	missense variant	-	NC_000003.12:g.111112099A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys77Asn	missense variant	-	NC_000003.12:g.111112100G>T	NCI-TCGA
COSM3800870	p.Leu79Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111112105T>C	NCI-TCGA Cosmic
rs199883976	p.Ile80Val	missense variant	-	NC_000003.12:g.111112107A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1036845546	p.Asn83Ile	missense variant	-	NC_000003.12:g.111112117A>T	TOPMed,gnomAD
rs1356017015	p.Asn83Asp	missense variant	-	NC_000003.12:g.111112116A>G	TOPMed
rs1036845546	p.Asn83Ser	missense variant	-	NC_000003.12:g.111112117A>G	TOPMed,gnomAD
rs761163765	p.Thr85Ala	missense variant	-	NC_000003.12:g.111112122A>G	ExAC,gnomAD
rs1246994842	p.Thr85Ile	missense variant	-	NC_000003.12:g.111112123C>T	gnomAD
rs767088764	p.Ile86Val	missense variant	-	NC_000003.12:g.111112125A>G	ExAC,gnomAD
rs749998282	p.Thr87Ile	missense variant	-	NC_000003.12:g.111112129C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln88His	missense variant	-	NC_000003.12:g.111112133G>C	NCI-TCGA
NCI-TCGA novel	p.Gln88Arg	missense variant	-	NC_000003.12:g.111112132A>G	NCI-TCGA
NCI-TCGA novel	p.Trp91Ter	stop gained	-	NC_000003.12:g.111112142G>A	NCI-TCGA
NCI-TCGA novel	p.Glu92Gln	missense variant	-	NC_000003.12:g.111112143G>C	NCI-TCGA
rs755848393	p.Lys97Arg	missense variant	-	NC_000003.12:g.111112159A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys97Glu	missense variant	-	NC_000003.12:g.111112158A>G	NCI-TCGA
rs1468910964	p.Ser98Thr	missense variant	-	NC_000003.12:g.111112162G>C	TOPMed
rs753688037	p.Ser99Leu	missense variant	-	NC_000003.12:g.111112165C>T	ExAC,gnomAD
rs1426597439	p.Gln100Lys	missense variant	-	NC_000003.12:g.111112167C>A	TOPMed
rs1410208045	p.Gln100Leu	missense variant	-	NC_000003.12:g.111112168A>T	gnomAD
NCI-TCGA novel	p.Thr101Ile	missense variant	-	NC_000003.12:g.111112171C>T	NCI-TCGA
rs1317888347	p.Ala103Thr	missense variant	-	NC_000003.12:g.111112176G>A	gnomAD
rs752708825	p.His105Arg	missense variant	-	NC_000003.12:g.111112183A>G	ExAC,gnomAD
rs1370012514	p.Gln108Arg	missense variant	-	NC_000003.12:g.111112192A>G	gnomAD
NCI-TCGA novel	p.Phe111Leu	missense variant	-	NC_000003.12:g.111112202C>A	NCI-TCGA
rs574134938	p.Val113Ile	missense variant	-	NC_000003.12:g.111112206G>A	1000Genomes,ExAC,gnomAD
rs574134938	p.Val113Phe	missense variant	-	NC_000003.12:g.111112206G>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln114Arg	missense variant	-	NC_000003.12:g.111112210A>G	NCI-TCGA
rs1175952960	p.Gly115Ala	missense variant	-	NC_000003.12:g.111112213G>C	TOPMed
rs201919059	p.Gly115Ter	stop gained	-	NC_000003.12:g.111112212G>T	1000Genomes,ExAC
rs1222768124	p.Gln118Glu	missense variant	-	NC_000003.12:g.111112221C>G	gnomAD
COSM1149541	p.Arg120Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111112228G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg120Lys	missense variant	-	NC_000003.12:g.111112228G>A	NCI-TCGA
rs1211462911	p.Lys124Asn	missense variant	-	NC_000003.12:g.111112241A>T	gnomAD
rs1259330906	p.Asn129Ser	missense variant	-	NC_000003.12:g.111112255A>G	TOPMed,gnomAD
rs1233756314	p.Asp130His	missense variant	-	NC_000003.12:g.111112257G>C	TOPMed
rs1251497860	p.Ile133Val	missense variant	-	NC_000003.12:g.111112266A>G	gnomAD
rs913993701	p.Thr134Ser	missense variant	-	NC_000003.12:g.111112270C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Thr134Ala	missense variant	-	NC_000003.12:g.111112269A>G	NCI-TCGA
rs1235155641	p.His136Arg	missense variant	-	NC_000003.12:g.111112276A>G	TOPMed,gnomAD
rs1418707809	p.Ile138Thr	missense variant	-	NC_000003.12:g.111112282T>C	gnomAD
rs762409264	p.Ile138Val	missense variant	-	NC_000003.12:g.111112281A>G	ExAC,TOPMed,gnomAD
rs771465802	p.Ser141Phe	missense variant	-	NC_000003.12:g.111112291C>T	ExAC,gnomAD
rs772841599	p.Lys145Arg	missense variant	-	NC_000003.12:g.111112303A>G	ExAC,gnomAD
COSM6162746	p.Ile147Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111112309T>A	NCI-TCGA Cosmic
rs556290012	p.Ile147Val	missense variant	-	NC_000003.12:g.111112308A>G	1000Genomes,ExAC,gnomAD
rs1389553139	p.Lys149Glu	missense variant	-	NC_000003.12:g.111112314A>G	TOPMed
COSM4112139	p.Val151Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111112320G>A	NCI-TCGA Cosmic
rs753490691	p.Thr152Ile	missense variant	-	NC_000003.12:g.111112324C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro154Leu	missense variant	-	NC_000003.12:g.111112330C>T	NCI-TCGA
NCI-TCGA novel	p.Gly156Val	missense variant	-	NC_000003.12:g.111112336G>T	NCI-TCGA
NCI-TCGA novel	p.Gly156Ter	stop gained	-	NC_000003.12:g.111112335G>T	NCI-TCGA
rs752554749	p.Ala158Thr	missense variant	-	NC_000003.12:g.111112341G>A	ExAC,gnomAD
rs752554749	p.Ala158Ser	missense variant	-	NC_000003.12:g.111112341G>T	ExAC,gnomAD
rs756277129	p.Ser161Phe	missense variant	-	NC_000003.12:g.111112351C>T	ExAC,gnomAD
rs756277129	p.Ser161Cys	missense variant	-	NC_000003.12:g.111112351C>G	ExAC,gnomAD
rs374717215	p.Thr162Ala	missense variant	-	NC_000003.12:g.111112353A>G	ESP,ExAC,TOPMed,gnomAD
rs1466134871	p.Val164Leu	missense variant	-	NC_000003.12:g.111112359G>C	TOPMed
rs1258293741	p.Thr165Ala	missense variant	-	NC_000003.12:g.111112362A>G	gnomAD
rs367641275	p.Thr165Asn	missense variant	-	NC_000003.12:g.111112363C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val166Leu	missense variant	-	NC_000003.12:g.111112365G>C	NCI-TCGA
rs572328559	p.Thr171Ile	missense variant	-	NC_000003.12:g.111118665C>T	TOPMed,gnomAD
rs143940513	p.Thr171Ala	missense variant	-	NC_000003.12:g.111118664A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754093690	p.Val172Met	missense variant	-	NC_000003.12:g.111118667G>A	ExAC,gnomAD
rs755272347	p.Ser173Asn	missense variant	-	NC_000003.12:g.111118671G>A	ExAC,gnomAD
rs1311698226	p.Ile175Thr	missense variant	-	NC_000003.12:g.111118677T>C	gnomAD
rs576258987	p.Ile175Leu	missense variant	-	NC_000003.12:g.111118676A>T	1000Genomes,ExAC,gnomAD
rs564972526	p.Pro178Arg	missense variant	-	NC_000003.12:g.111118686C>G	1000Genomes,ExAC,gnomAD
rs778300135	p.Asp179Glu	missense variant	-	NC_000003.12:g.111118690T>G	ExAC,gnomAD
COSM1036201	p.Ser180Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118692C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser180Phe	missense variant	-	NC_000003.12:g.111118692C>T	NCI-TCGA
rs747534825	p.Ser180Ala	missense variant	-	NC_000003.12:g.111118691T>G	ExAC,gnomAD
rs770404577	p.Leu181Val	missense variant	-	NC_000003.12:g.111118694T>G	ExAC,gnomAD
rs752996530	p.Ile182Val	missense variant	-	NC_000003.12:g.111118697A>G	ExAC,TOPMed,gnomAD
rs752996530	p.Ile182Leu	missense variant	-	NC_000003.12:g.111118697A>C	ExAC,TOPMed,gnomAD
rs769544174	p.Ile182Thr	missense variant	-	NC_000003.12:g.111118698T>C	ExAC,gnomAD
rs775020272	p.Gly184Val	missense variant	-	NC_000003.12:g.111118704G>T	ExAC,gnomAD
rs762744542	p.Gly185Arg	missense variant	-	NC_000003.12:g.111118706G>A	ExAC,gnomAD
rs762744542	p.Gly185Ter	stop gained	-	NC_000003.12:g.111118706G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly185Val	missense variant	-	NC_000003.12:g.111118707G>T	NCI-TCGA
COSM1136910	p.Asn186Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118709A>T	NCI-TCGA Cosmic
rs1386128608	p.Asn186Ser	missense variant	-	NC_000003.12:g.111118710A>G	TOPMed
rs1365308988	p.Glu187Lys	missense variant	-	NC_000003.12:g.111118712G>A	TOPMed
rs201067228	p.Thr188Ile	missense variant	-	NC_000003.12:g.111118716C>T	1000Genomes,ExAC,gnomAD
rs1396692549	p.Ala190Val	missense variant	-	NC_000003.12:g.111118722C>T	TOPMed,gnomAD
rs766539447	p.Ile192Val	missense variant	-	NC_000003.12:g.111118727A>G	ExAC,TOPMed,gnomAD
rs370798352	p.Cys193Ser	missense variant	-	NC_000003.12:g.111118731G>C	ESP,ExAC
rs755022112	p.Ile194Met	missense variant	-	NC_000003.12:g.111118735C>G	ExAC,gnomAD
rs1286743597	p.Thr197Ala	missense variant	-	NC_000003.12:g.111118742A>G	gnomAD
COSM3585183	p.Pro200Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118752C>T	NCI-TCGA Cosmic
rs778158059	p.Val201Ile	missense variant	-	NC_000003.12:g.111118754G>A	ExAC,TOPMed,gnomAD
rs757827364	p.Asp205Asn	missense variant	-	NC_000003.12:g.111118766G>A	ExAC,TOPMed,gnomAD
rs757827364	p.Asp205His	missense variant	-	NC_000003.12:g.111118766G>C	ExAC,TOPMed,gnomAD
rs1439301902	p.Asp209Gly	missense variant	-	NC_000003.12:g.111118779A>G	gnomAD
rs1301264689	p.Ser215Tyr	missense variant	-	NC_000003.12:g.111118797C>A	gnomAD
rs1317577704	p.Thr217Ala	missense variant	-	NC_000003.12:g.111118802A>G	gnomAD
rs973070624	p.Ser219Tyr	missense variant	-	NC_000003.12:g.111118809C>A	gnomAD
rs925619291	p.Ser219Pro	missense variant	-	NC_000003.12:g.111118808T>C	TOPMed
rs780667030	p.Phe220Leu	missense variant	-	NC_000003.12:g.111118811T>C	ExAC,gnomAD
rs1231941338	p.Phe220Ser	missense variant	-	NC_000003.12:g.111118812T>C	TOPMed,gnomAD
rs1259040473	p.Thr224Ala	missense variant	-	NC_000003.12:g.111118823A>G	gnomAD
rs376114520	p.Thr224Met	missense variant	-	NC_000003.12:g.111118824C>T	ESP,ExAC,gnomAD
rs542237553	p.Ala225Glu	missense variant	-	NC_000003.12:g.111118827C>A	TOPMed,gnomAD
rs1190549551	p.Thr226Met	missense variant	-	NC_000003.12:g.111118830C>T	gnomAD
NCI-TCGA novel	p.Thr226Ala	missense variant	-	NC_000003.12:g.111118829A>G	NCI-TCGA
rs1197645447	p.Ile228Ser	missense variant	-	NC_000003.12:g.111118836T>G	TOPMed
rs529321606	p.Gln230Glu	missense variant	-	NC_000003.12:g.111118841C>G	1000Genomes,ExAC,gnomAD
rs1259300768	p.Gln230His	missense variant	-	NC_000003.12:g.111118843G>C	gnomAD
rs761824560	p.Lys232Asn	missense variant	-	NC_000003.12:g.111118849G>C	ExAC,gnomAD
rs895541966	p.Phe234Leu	missense variant	-	NC_000003.12:g.111118855T>A	TOPMed,gnomAD
rs1166692156	p.Ala239Ser	missense variant	-	NC_000003.12:g.111118868G>T	gnomAD
NCI-TCGA novel	p.Ala239Thr	missense variant	-	NC_000003.12:g.111118868G>A	NCI-TCGA
COSM6162744	p.Arg240Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118872G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg242Met	missense variant	-	NC_000003.12:g.111118878G>T	NCI-TCGA
rs773299824	p.Arg243Ter	stop gained	-	NC_000003.12:g.111118880C>T	ExAC,gnomAD
rs368391163	p.Arg243Gln	missense variant	-	NC_000003.12:g.111118881G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368391163	p.Arg243Leu	missense variant	-	NC_000003.12:g.111118881G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr245Asn	missense variant	-	NC_000003.12:g.111118887C>A	NCI-TCGA
rs372289790	p.Val247Ala	missense variant	-	NC_000003.12:g.111118893T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val248Leu	missense variant	-	NC_000003.12:g.111118895G>T	NCI-TCGA
NCI-TCGA novel	p.Val248Ala	missense variant	-	NC_000003.12:g.111118896T>C	NCI-TCGA
rs752935419	p.Ala252Val	missense variant	-	NC_000003.12:g.111118908C>T	ExAC,gnomAD
rs763134788	p.Lys255Glu	missense variant	-	NC_000003.12:g.111118916A>G	ExAC,gnomAD
rs764429627	p.Lys255Arg	missense variant	-	NC_000003.12:g.111118917A>G	ExAC,TOPMed,gnomAD
rs757622930	p.Ile257Met	missense variant	-	NC_000003.12:g.111118924C>G	ExAC,TOPMed,gnomAD
rs751987371	p.Ile257Val	missense variant	-	NC_000003.12:g.111118922A>G	ExAC,TOPMed,gnomAD
rs751987371	p.Ile257Phe	missense variant	-	NC_000003.12:g.111118922A>T	ExAC,TOPMed,gnomAD
COSM1417696	p.Tyr259Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118929A>G	NCI-TCGA Cosmic
COSM4112141	p.Tyr259His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118928T>C	NCI-TCGA Cosmic
rs993043168	p.Ser260Phe	missense variant	-	NC_000003.12:g.111118932C>T	gnomAD
rs1016816925	p.Ile262Met	missense variant	-	NC_000003.12:g.111118939A>G	TOPMed,gnomAD
COSM1134181	p.Leu263Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118940T>G	NCI-TCGA Cosmic
rs750914247	p.Ile265Val	missense variant	-	NC_000003.12:g.111118946A>G	ExAC,gnomAD
rs755608153	p.Gln266Arg	missense variant	-	NC_000003.12:g.111118950A>G	ExAC,TOPMed,gnomAD
rs755608153	p.Gln266Leu	missense variant	-	NC_000003.12:g.111118950A>T	ExAC,TOPMed,gnomAD
rs1186791584	p.Ala268Thr	missense variant	-	NC_000003.12:g.111122123G>A	gnomAD
rs200520350	p.Ser272Leu	missense variant	-	NC_000003.12:g.111122136C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs762115608	p.Val273Ile	missense variant	-	NC_000003.12:g.111122138G>A	ExAC,gnomAD
rs762115608	p.Val273Leu	missense variant	-	NC_000003.12:g.111122138G>T	ExAC,gnomAD
COSM1149542	p.Thr274Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111122142C>T	NCI-TCGA Cosmic
rs1435893649	p.Asp277Asn	missense variant	-	NC_000003.12:g.111122150G>A	gnomAD
rs750909227	p.Asp277Val	missense variant	-	NC_000003.12:g.111122151A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn279His	missense variant	-	NC_000003.12:g.111122156A>C	NCI-TCGA
rs1373736360	p.Val282Ile	missense variant	-	NC_000003.12:g.111122165G>A	TOPMed,gnomAD
rs1373736360	p.Val282Leu	missense variant	-	NC_000003.12:g.111122165G>C	TOPMed,gnomAD
rs779599842	p.Lys285Glu	missense variant	-	NC_000003.12:g.111122174A>G	ExAC,gnomAD
rs753352009	p.Gly286Ser	missense variant	-	NC_000003.12:g.111122177G>A	ExAC,gnomAD
rs1212527241	p.Gly286Asp	missense variant	-	NC_000003.12:g.111122178G>A	gnomAD
NCI-TCGA novel	p.Ala293IlePheSerTerUnk	frameshift	-	NC_000003.12:g.111122197_111122198insATACATGATAAAATATTAA	NCI-TCGA
rs1039212311	p.Asp294Gly	missense variant	-	NC_000003.12:g.111122202A>G	gnomAD
rs1236432429	p.Ala295Gly	missense variant	-	NC_000003.12:g.111122205C>G	gnomAD
rs79006549	p.Asn296His	missense variant	-	NC_000003.12:g.111122207A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79006549	p.Asn296Asp	missense variant	-	NC_000003.12:g.111122207A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1431649270	p.Asn296Ser	missense variant	-	NC_000003.12:g.111122208A>G	TOPMed
RCV000490767	p.Asn296His	missense variant	Congenital cataract	NC_000003.12:g.111122207A>C	ClinVar
rs747837674	p.Pro298Leu	missense variant	-	NC_000003.12:g.111122214C>T	ExAC,gnomAD
rs541459080	p.Lys301Arg	missense variant	-	NC_000003.12:g.111122223A>G	1000Genomes,ExAC,gnomAD
COSM1484415	p.Ser302Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111122225T>G	NCI-TCGA Cosmic
rs777480767	p.Trp304Ser	missense variant	-	NC_000003.12:g.111122232G>C	ExAC,gnomAD
rs746954303	p.Ser305Arg	missense variant	-	NC_000003.12:g.111122236C>G	ExAC
COSM6162742	p.Arg306Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111122237A>G	NCI-TCGA Cosmic
rs1249485603	p.Leu307Phe	missense variant	-	NC_000003.12:g.111126187G>T	TOPMed
NCI-TCGA novel	p.Trp311Ter	stop gained	-	NC_000003.12:g.111126199G>A	NCI-TCGA
rs377107814	p.Asp313Val	missense variant	-	NC_000003.12:g.111126204A>T	ESP,ExAC,TOPMed,gnomAD
rs377107814	p.Asp313Gly	missense variant	-	NC_000003.12:g.111126204A>G	ESP,ExAC,TOPMed,gnomAD
rs1019578505	p.Ala317Pro	missense variant	-	NC_000003.12:g.111126215G>C	TOPMed
rs774461240	p.Ser318Leu	missense variant	-	NC_000003.12:g.111126219C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp319Tyr	missense variant	-	NC_000003.12:g.111126221G>T	NCI-TCGA
rs772246599	p.Asn320Ser	missense variant	-	NC_000003.12:g.111126225A>G	ExAC,TOPMed,gnomAD
rs773483080	p.Thr321Ala	missense variant	-	NC_000003.12:g.111126227A>G	ExAC,gnomAD
rs760903476	p.Thr321Ile	missense variant	-	NC_000003.12:g.111126228C>T	ExAC,gnomAD
rs1227367339	p.Val325Phe	missense variant	-	NC_000003.12:g.111126239G>T	gnomAD
rs766800647	p.His326Tyr	missense variant	-	NC_000003.12:g.111126242C>T	ExAC,TOPMed,gnomAD
rs1017898255	p.Asn331Tyr	missense variant	-	NC_000003.12:g.111126257A>T	gnomAD
rs1017898255	p.Asn331Asp	missense variant	-	NC_000003.12:g.111126257A>G	gnomAD
rs200130886	p.Asn331Ser	missense variant	-	NC_000003.12:g.111126258A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1407084284	p.Ile337Ser	missense variant	-	NC_000003.12:g.111126276T>G	TOPMed
NCI-TCGA novel	p.Thr341Ala	missense variant	-	NC_000003.12:g.111126287A>G	NCI-TCGA
rs1158571091	p.Asn342Ser	missense variant	-	NC_000003.12:g.111126291A>G	TOPMed
COSM1484417	p.Gly345Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111126300G>T	NCI-TCGA Cosmic
COSM1308374	p.Gln346Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111126302C>T	NCI-TCGA Cosmic
rs1181715601	p.Gln346Glu	missense variant	-	NC_000003.12:g.111126302C>G	gnomAD
rs1409734620	p.Gln346Leu	missense variant	-	NC_000003.12:g.111126303A>T	TOPMed
rs763596100	p.Gln346His	missense variant	-	NC_000003.12:g.111126304A>C	ExAC,gnomAD
rs1476312898	p.Ser348Gly	missense variant	-	NC_000003.12:g.111126308A>G	gnomAD
rs751247055	p.Ser348Asn	missense variant	-	NC_000003.12:g.111126309G>A	ExAC
COSM6162740	p.Asp349His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111126311G>C	NCI-TCGA Cosmic
rs370802857	p.Gln350His	missense variant	-	NC_000003.12:g.111126316A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys351Glu	missense variant	-	NC_000003.12:g.111126317A>G	NCI-TCGA
rs556409171	p.Val352Leu	missense variant	-	NC_000003.12:g.111126320G>C	1000Genomes,ExAC,gnomAD
rs1236635369	p.Val352Gly	missense variant	-	NC_000003.12:g.111126321T>G	TOPMed
rs778957089	p.Ile353Val	missense variant	-	NC_000003.12:g.111126323A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile355Thr	missense variant	-	NC_000003.12:g.111126330T>C	NCI-TCGA
rs750282632	p.Asp357Ala	missense variant	-	NC_000003.12:g.111133635A>C	ExAC,TOPMed,gnomAD
rs1408623828	p.Asp357Asn	missense variant	-	NC_000003.12:g.111126335G>A	gnomAD
COSM3585185	p.Pro358His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133638C>A	NCI-TCGA Cosmic
rs755904297	p.Pro358Leu	missense variant	-	NC_000003.12:g.111133638C>T	ExAC,gnomAD
rs779905970	p.Pro359His	missense variant	-	NC_000003.12:g.111133641C>A	ExAC,gnomAD
rs371971217	p.Thr360Ala	missense variant	-	NC_000003.12:g.111133643A>G	ESP,ExAC,TOPMed,gnomAD
rs371971217	p.Thr360Ser	missense variant	-	NC_000003.12:g.111133643A>T	ESP,ExAC,TOPMed,gnomAD
rs371971217	p.Thr360Pro	missense variant	-	NC_000003.12:g.111133643A>C	ESP,ExAC,TOPMed,gnomAD
rs747187494	p.Thr363Ile	missense variant	-	NC_000003.12:g.111133653C>T	ExAC,TOPMed,gnomAD
rs771253670	p.Leu364Phe	missense variant	-	NC_000003.12:g.111133655C>T	ExAC,gnomAD
rs1228343828	p.Pro366Leu	missense variant	-	NC_000003.12:g.111133662C>T	gnomAD
rs375240781	p.Thr367Ala	missense variant	-	NC_000003.12:g.111133664A>G	ESP,ExAC,TOPMed,gnomAD
rs746177905	p.Ile368Val	missense variant	-	NC_000003.12:g.111133667A>G	ExAC,TOPMed,gnomAD
rs369025184	p.Gln369His	missense variant	-	NC_000003.12:g.111133672G>C	ESP,ExAC,TOPMed,gnomAD
rs768027828	p.Thr374Ala	missense variant	-	NC_000003.12:g.111133685A>G	ExAC
rs372940527	p.Asp376Glu	missense variant	-	NC_000003.12:g.111133693C>G	ESP,ExAC,gnomAD
rs1205844764	p.Glu378Lys	missense variant	-	NC_000003.12:g.111133697G>A	TOPMed
rs1442292352	p.Asp379Val	missense variant	-	NC_000003.12:g.111133701A>T	TOPMed
rs761364043	p.Leu380Pro	missense variant	-	NC_000003.12:g.111133704T>C	ExAC,gnomAD
COSM1036204	p.Glu383Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111133712G>T	NCI-TCGA Cosmic
rs375320584	p.Glu383Lys	missense variant	-	NC_000003.12:g.111133712G>A	ESP,ExAC,TOPMed,gnomAD
rs1396356110	p.Pro384Thr	missense variant	-	NC_000003.12:g.111133715C>A	gnomAD
COSM3426876	p.Lys385Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133719A>C	NCI-TCGA Cosmic
COSM4747755	p.Lys386AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111133718A>-	NCI-TCGA Cosmic
rs750085968	p.Lys386Thr	missense variant	-	NC_000003.12:g.111133722A>C	ExAC,gnomAD
rs750085968	p.Lys386Ile	missense variant	-	NC_000003.12:g.111133722A>T	ExAC,gnomAD
COSM263186	p.Leu387IlePheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111133717_111133718insA	NCI-TCGA Cosmic
rs1383593832	p.Pro388Ser	missense variant	-	NC_000003.12:g.111133727C>T	gnomAD
rs369345930	p.Pro388Leu	missense variant	-	NC_000003.12:g.111133728C>T	ESP,ExAC,TOPMed,gnomAD
rs757299486	p.Leu394Trp	missense variant	-	NC_000003.12:g.111133746T>G	ExAC,gnomAD
rs781515870	p.Ala395Thr	missense variant	-	NC_000003.12:g.111133748G>A	ExAC,gnomAD
rs1352477370	p.Thr396Ile	missense variant	-	NC_000003.12:g.111133752C>T	TOPMed
NCI-TCGA novel	p.Thr396Ala	missense variant	-	NC_000003.12:g.111133751A>G	NCI-TCGA
rs746124956	p.Asp399Tyr	missense variant	-	NC_000003.12:g.111133760G>T	ExAC,TOPMed,gnomAD
rs1464326920	p.Asp400Gly	missense variant	-	NC_000003.12:g.111133764A>G	gnomAD
rs373638334	p.Ile402Val	missense variant	-	NC_000003.12:g.111133769A>G	ESP,TOPMed,gnomAD
rs1358454724	p.Ala403Thr	missense variant	-	NC_000003.12:g.111133772G>A	TOPMed
rs139502141	p.Thr404Met	missense variant	-	NC_000003.12:g.111133776C>T	ESP,ExAC,TOPMed,gnomAD
rs1004158566	p.Ile406Thr	missense variant	-	NC_000003.12:g.111133782T>C	TOPMed
rs769271969	p.Ala407Val	missense variant	-	NC_000003.12:g.111133785C>T	ExAC,gnomAD
rs1406508453	p.Ser408Asn	missense variant	-	NC_000003.12:g.111133788G>A	TOPMed
rs537220727	p.Val409Glu	missense variant	-	NC_000003.12:g.111133791T>A	gnomAD
rs150017735	p.Val409Ile	missense variant	-	NC_000003.12:g.111133790G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs537220727	p.Val409Ala	missense variant	-	NC_000003.12:g.111133791T>C	gnomAD
rs771589908	p.Val410Met	missense variant	-	NC_000003.12:g.111133793G>A	ExAC,gnomAD
COSM727303	p.Gly411Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133797G>T	NCI-TCGA Cosmic
rs772823730	p.Gly411Ser	missense variant	-	NC_000003.12:g.111133796G>A	ExAC,gnomAD
rs760373641	p.Leu414Phe	missense variant	-	NC_000003.12:g.111133805C>T	ExAC,TOPMed,gnomAD
rs995058504	p.Leu414Pro	missense variant	-	NC_000003.12:g.111133806T>C	TOPMed
rs760373641	p.Leu414Val	missense variant	-	NC_000003.12:g.111133805C>G	ExAC,TOPMed,gnomAD
rs1472777064	p.Ile416Val	missense variant	-	NC_000003.12:g.111133811A>G	TOPMed
NCI-TCGA novel	p.Ile416Thr	missense variant	-	NC_000003.12:g.111133812T>C	NCI-TCGA
rs1300645407	p.Val419Leu	missense variant	-	NC_000003.12:g.111133820G>T	gnomAD
rs1230459532	p.Ser420Thr	missense variant	-	NC_000003.12:g.111133824G>C	gnomAD
rs1336466900	p.Ser420Cys	missense variant	-	NC_000003.12:g.111133823A>T	gnomAD
rs1286753860	p.Leu422Met	missense variant	-	NC_000003.12:g.111133829T>A	gnomAD
rs1236276788	p.Gly424Val	missense variant	-	NC_000003.12:g.111133836G>T	TOPMed
rs553444995	p.Ile425Met	missense variant	-	NC_000003.12:g.111133840A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs759255246	p.Cys427Trp	missense variant	-	NC_000003.12:g.111133846C>G	ExAC,TOPMed,gnomAD
rs145265722	p.Tyr428His	missense variant	-	NC_000003.12:g.111133847T>C	ESP,ExAC,TOPMed,gnomAD
rs752599607	p.Tyr428Cys	missense variant	-	NC_000003.12:g.111133848A>G	ExAC,TOPMed,gnomAD
rs1473327342	p.Arg430Thr	missense variant	-	NC_000003.12:g.111133854G>C	gnomAD
COSM3585188	p.Arg431Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133857G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg431His	insertion	-	NC_000003.12:g.111133859_111133860insACA	NCI-TCGA
NCI-TCGA novel	p.Arg431Lys	missense variant	-	NC_000003.12:g.111133857G>A	NCI-TCGA
rs15611	p.Arg432Pro	missense variant	-	NC_000003.12:g.111133860G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs370275480	p.Arg432Trp	missense variant	-	NC_000003.12:g.111133859C>T	ESP,ExAC,TOPMed,gnomAD
rs15611	p.Arg432Gln	missense variant	-	NC_000003.12:g.111133860G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs15611	p.Arg432Leu	missense variant	-	NC_000003.12:g.111133860G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs756460855	p.Thr433Met	missense variant	-	NC_000003.12:g.111133863C>T	ExAC,TOPMed,gnomAD
rs1454496622	p.Phe434Ser	missense variant	-	NC_000003.12:g.111133866T>C	TOPMed
rs749596338	p.Arg435His	missense variant	-	NC_000003.12:g.111133869G>A	ExAC,TOPMed,gnomAD
rs780559368	p.Arg435Cys	missense variant	-	NC_000003.12:g.111133868C>T	ExAC,gnomAD
rs149156497	p.Gly436Arg	missense variant	-	NC_000003.12:g.111133871G>A	ESP,ExAC,TOPMed,gnomAD
rs374184162	p.Asp437Gly	missense variant	-	NC_000003.12:g.111133875A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Asp437Asn	missense variant	-	NC_000003.12:g.111133874G>A	NCI-TCGA
rs768505329	p.Tyr438Cys	missense variant	-	NC_000003.12:g.111133878A>G	ExAC,TOPMed,gnomAD
rs771551537	p.Phe439Cys	missense variant	-	NC_000003.12:g.111133881T>G	ExAC,gnomAD
rs1346559422	p.Ala440Val	missense variant	-	NC_000003.12:g.111133884C>T	TOPMed
rs772772346	p.Tyr443Cys	missense variant	-	NC_000003.12:g.111133893A>G	ExAC,TOPMed,gnomAD
COSM3585189	p.Pro445Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133899C>T	NCI-TCGA Cosmic
rs1234157519	p.Pro446Ser	missense variant	-	NC_000003.12:g.111133901C>T	gnomAD
rs1314585184	p.Ser447Leu	missense variant	-	NC_000003.12:g.111133905C>T	gnomAD
COSM1036207	p.Asp448Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133907G>T	NCI-TCGA Cosmic
rs1382414690	p.Asp448Asn	missense variant	-	NC_000003.12:g.111133907G>A	gnomAD
rs746663813	p.Met449Thr	missense variant	-	NC_000003.12:g.111133911T>C	ExAC,TOPMed,gnomAD
rs746663813	p.Met449Lys	missense variant	-	NC_000003.12:g.111133911T>A	ExAC,TOPMed,gnomAD
rs1319745687	p.Met449Val	missense variant	-	NC_000003.12:g.111133910A>G	gnomAD
NCI-TCGA novel	p.Lys451Glu	missense variant	-	NC_000003.12:g.111133916A>G	NCI-TCGA
COSM1036208	p.Glu452Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111133919G>T	NCI-TCGA Cosmic
rs770506988	p.Glu452Asp	missense variant	-	NC_000003.12:g.111133921A>T	ExAC,gnomAD
rs1484004485	p.Ser453Ala	missense variant	-	NC_000003.12:g.111133922T>G	TOPMed,gnomAD
rs1202325810	p.Ile455Val	missense variant	-	NC_000003.12:g.111133928A>G	gnomAD
rs776163447	p.Ile455Thr	missense variant	-	NC_000003.12:g.111133929T>C	ExAC,gnomAD
rs759328302	p.Asp456Gly	missense variant	-	NC_000003.12:g.111133932A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val457Phe	missense variant	-	NC_000003.12:g.111133934G>T	NCI-TCGA
COSM445289	p.Glu462Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133949G>A	NCI-TCGA Cosmic
rs150500468	p.Asp468Gly	missense variant	-	NC_000003.12:g.111133968A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs767691342	p.Ser469Asn	missense variant	-	NC_000003.12:g.111133971G>A	ExAC,gnomAD
rs956836881	p.Ser469Gly	missense variant	-	NC_000003.12:g.111133970A>G	TOPMed
rs750595805	p.Lys472Gln	missense variant	-	NC_000003.12:g.111133979A>C	ExAC,gnomAD
rs756266550	p.Lys472Ile	missense variant	-	NC_000003.12:g.111133980A>T	ExAC,gnomAD
COSM5108180	p.Glu473LysPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111133975A>-	NCI-TCGA Cosmic
rs766561615	p.Glu473Val	missense variant	-	NC_000003.12:g.111133983A>T	ExAC,TOPMed,gnomAD
rs766561615	p.Glu473Gly	missense variant	-	NC_000003.12:g.111133983A>G	ExAC,TOPMed,gnomAD
rs760367541	p.Glu473ArgPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.111133974_111133975insA	NCI-TCGA,NCI-TCGA Cosmic
rs1320053907	p.Lys475Glu	missense variant	-	NC_000003.12:g.111133988A>G	TOPMed
rs1304881909	p.Lys475Arg	missense variant	-	NC_000003.12:g.111133989A>G	gnomAD
COSM460956	p.Pro477Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133994C>G	NCI-TCGA Cosmic
rs1376686698	p.Pro477Leu	missense variant	-	NC_000003.12:g.111133995C>T	gnomAD
rs1292103675	p.Asn479Lys	missense variant	-	NC_000003.12:g.111134002C>A	TOPMed
rs1395183407	p.Asn480Asp	missense variant	-	NC_000003.12:g.111134003A>G	gnomAD
rs139467007	p.Asn480Ser	missense variant	-	NC_000003.12:g.111134004A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs755325649	p.Leu481Val	missense variant	-	NC_000003.12:g.111134006C>G	ExAC,TOPMed,gnomAD
rs779197526	p.Arg483Cys	missense variant	-	NC_000003.12:g.111134012C>T	ExAC,TOPMed,gnomAD
rs748644743	p.Arg483His	missense variant	-	NC_000003.12:g.111134013G>A	ExAC,TOPMed,gnomAD
rs779197526	p.Arg483Ser	missense variant	-	NC_000003.12:g.111134012C>A	ExAC,TOPMed,gnomAD
rs563784018	p.Lys484Arg	missense variant	-	NC_000003.12:g.111134016A>G	TOPMed,gnomAD
rs1235325670	p.Asp485Gly	missense variant	-	NC_000003.12:g.111134019A>G	gnomAD
rs1467621832	p.Tyr486His	missense variant	-	NC_000003.12:g.111134021T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu487Ile	missense variant	-	NC_000003.12:g.111134024T>A	NCI-TCGA
rs1482725492	p.Leu487Val	missense variant	-	NC_000003.12:g.111134024T>G	gnomAD
rs746465763	p.Glu491Gly	missense variant	-	NC_000003.12:g.111134037A>G	ExAC,gnomAD
rs202203829	p.Lys492Glu	missense variant	-	NC_000003.12:g.111134039A>G	ExAC,TOPMed,gnomAD
rs1448005241	p.Thr493Ile	missense variant	-	NC_000003.12:g.111134043C>T	gnomAD
rs780858409	p.Gln494His	missense variant	-	NC_000003.12:g.111134047G>C	ExAC,TOPMed,gnomAD
rs1178344057	p.Trp495Cys	missense variant	-	NC_000003.12:g.111134050G>T	gnomAD
rs745548812	p.Asn497Ser	missense variant	-	NC_000003.12:g.111134055A>G	ExAC,TOPMed,gnomAD
rs376458207	p.Val498Leu	missense variant	-	NC_000003.12:g.111134057G>C	ESP,ExAC,TOPMed,gnomAD
rs376458207	p.Val498Ile	missense variant	-	NC_000003.12:g.111134057G>A	ESP,ExAC,TOPMed,gnomAD
rs1289203158	p.Leu501Val	missense variant	-	NC_000003.12:g.111134066C>G	TOPMed,gnomAD
rs1289203158	p.Leu501Ile	missense variant	-	NC_000003.12:g.111134066C>A	TOPMed,gnomAD
rs1218222582	p.Asn502Tyr	missense variant	-	NC_000003.12:g.111134069A>T	gnomAD
NCI-TCGA novel	p.Pro507Thr	missense variant	-	NC_000003.12:g.111134084C>A	NCI-TCGA
rs760297187	p.Met508Val	missense variant	-	NC_000003.12:g.111134087A>G	ExAC,TOPMed,gnomAD
rs1220386255	p.Asp509Gly	missense variant	-	NC_000003.12:g.111134091A>G	gnomAD
rs1371657385	p.Asp509Asn	missense variant	-	NC_000003.12:g.111134090G>A	gnomAD
rs768645942	p.Tyr511Phe	missense variant	-	NC_000003.12:g.111134097A>T	ExAC,gnomAD
rs760785541	p.Glu512Ala	missense variant	-	NC_000003.12:g.111134100A>C	ExAC,gnomAD
rs957455374	p.Lys515Asn	missense variant	-	NC_000003.12:g.111134110A>T	gnomAD
rs199505993	p.Met516Lys	missense variant	-	NC_000003.12:g.111134112T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1478647105	p.Gly517Glu	missense variant	-	NC_000003.12:g.111134115G>A	gnomAD
rs1192956751	p.Met518Val	missense variant	-	NC_000003.12:g.111134117A>G	gnomAD
rs765634009	p.Val521Ala	missense variant	-	NC_000003.12:g.111134127T>C	ExAC,gnomAD
rs759738896	p.Val521Ile	missense variant	-	NC_000003.12:g.111134126G>A	ExAC,TOPMed,gnomAD
rs759738896	p.Val521Leu	missense variant	-	NC_000003.12:g.111134126G>C	ExAC,TOPMed,gnomAD
rs1390543411	p.Ser522Gly	missense variant	-	NC_000003.12:g.111134129A>G	gnomAD
rs1225138577	p.Asp523Gly	missense variant	-	NC_000003.12:g.111134133A>G	TOPMed
rs752995369	p.Tyr526Asn	missense variant	-	NC_000003.12:g.111134141T>A	ExAC,gnomAD
rs778205129	p.Glu530Lys	missense variant	-	NC_000003.12:g.111134153G>A	ExAC,TOPMed,gnomAD
rs1017790274	p.Asp531Gly	missense variant	-	NC_000003.12:g.111134157A>G	gnomAD
rs1289896337	p.His536Tyr	missense variant	-	NC_000003.12:g.111134171C>T	gnomAD
rs1267932734	p.Val541Ile	missense variant	-	NC_000003.12:g.111134186G>A	gnomAD
rs745518995	p.Ser543Ala	missense variant	-	NC_000003.12:g.111134192T>G	ExAC,gnomAD
rs1477771672	p.Trp547Cys	missense variant	-	NC_000003.12:g.111134206G>T	gnomAD
rs143220633	p.Val549Ile	missense variant	-	NC_000003.12:g.111134210G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0009691	Congenital cataract	disease	CLINVAR
C0014175	Endometriosis	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0086543	Cataract	disease	GENOMICS_ENGLAND
C0269102	Endometrioma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0949664	Tauopathies	group	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0038023	signaling receptor activity	IBA
GO:0042803	protein homodimerization activity	ISS
GO:0042803	protein homodimerization activity	IBA
GO:0050839	cell adhesion molecule binding	IPI
GO:0050839	cell adhesion molecule binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002089	lens morphogenesis in camera-type eye	IEA
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0007286	spermatid development	IEA
GO:0009566	fertilization	IEA
GO:0034332	adherens junction organization	TAS
GO:0060042	retina morphogenesis in camera-type eye	IEA
GO:0061951	establishment of protein localization to plasma membrane	ISS
GO:1902414	protein localization to cell junction	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	ISS
GO:0005886	plasma membrane	TAS
GO:0005911	cell-cell junction	ISS
GO:0005912	adherens junction	IBA
GO:0030424	axon	IEA
GO:0030425	dendrite	IEA
GO:0043296	apical junction complex	IBA
GO:0044291	cell-cell contact zone	IEA
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA
GO:0099061	integral component of postsynaptic density membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1500931	Cell-Cell communication	TAS
R-HSA-418990	Adherens junctions interactions	TAS
R-HSA-420597	Nectin/Necl trans heterodimerization	TAS
R-HSA-421270	Cell-cell junction organization	TAS
R-HSA-446728	Cell junction organization	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in increased expression of NECTIN3 mRNA	26377693
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of NECTIN3 mRNA	19933214
C017906	3-dinitrobenzene	3-dinitrobenzene results in decreased expression of NECTIN3 mRNA	24140754
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 NECTIN3 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of NECTIN3 mRNA	19150397
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of NECTIN3 mRNA	22079614
D000082	Acetaminophen	Acetaminophen affects the expression of NECTIN3 mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of NECTIN3 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of NECTIN3 gene	27153756
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of NECTIN3 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of NECTIN3 gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of NECTIN3 mRNA	22521957
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of NECTIN3 mRNA	19770486
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of NECTIN3 mRNA	26377693
C495703	bis(2-chloroethoxy)methane	bis(2-chloroethoxy)methane affects the expression of NECTIN3 mRNA	16844662
C006780	bisphenol A	bisphenol A results in increased expression of NECTIN3 mRNA	26063408
C006780	bisphenol A	bisphenol A results in decreased expression of NECTIN3 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of NECTIN3 gene	28505145
D002065	Buspirone	Buspirone results in decreased expression of NECTIN3 mRNA	24136188
D002104	Cadmium	Cadmium results in increased expression of NECTIN3 mRNA	24067728
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of NECTIN3 mRNA	17484886
D002737	Chloroprene	Chloroprene results in decreased expression of NECTIN3 mRNA	23125180
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of NECTIN3 gene	20938992
D002995	Clofibric Acid	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of NECTIN3 mRNA	17602206
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of NECTIN3 mRNA	24386269
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of NECTIN3 mRNA	19549813
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of NECTIN3 mRNA	23640034
C000944	dicrotophos	dicrotophos results in decreased expression of NECTIN3 mRNA	28302478
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of NECTIN3 mRNA	17602206
D004237	Diuron	Diuron results in decreased expression of NECTIN3 mRNA	21551480
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 NECTIN3 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of NECTIN3 mRNA	29803840
D060766	Drinking Water	Drinking Water results in decreased expression of NECTIN3 mRNA	19444861
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of NECTIN3 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of NECTIN3 mRNA	19484750
D000431	Ethanol	Ethanol results in decreased expression of NECTIN3 mRNA	29018328
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of NECTIN3 mRNA	17942748
C004912	ethylbenzene	ethylbenzene results in decreased expression of NECTIN3 mRNA	20955722
D017313	Fenretinide	Fenretinide results in increased expression of NECTIN3 mRNA	28973697
D005485	Flutamide	Flutamide results in decreased expression of NECTIN3 mRNA	24136188
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of NECTIN3 gene	20938992
D005897	Glafenine	Glafenine results in decreased expression of NECTIN3 mRNA	24136188
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of NECTIN3 mRNA	22634610
C544151	jinfukang	jinfukang results in decreased expression of NECTIN3 mRNA	27392435
D007649	Ketamine	Ketamine results in decreased expression of NECTIN3 mRNA	20080153
D000077339	Leflunomide	Leflunomide results in increased expression of NECTIN3 mRNA	28988120
D058185	Magnetite Nanoparticles	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of NECTIN3 mRNA	21641980
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of NECTIN3 gene	20938992
D008752	Methylene Chloride	Methylene Chloride results in decreased expression of NECTIN3 mRNA	20955722
C043243	methyl tert-butyl ether	methyl tert-butyl ether affects the expression of NECTIN3 mRNA	24128854
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of NECTIN3 mRNA	29191790
C406082	monomethylarsonous acid	monomethylarsonous acid results in decreased expression of NECTIN3 mRNA	22108045
C051752	nefazodone	nefazodone results in decreased expression of NECTIN3 mRNA	24136188
C012655	nimesulide	nimesulide results in decreased expression of NECTIN3 mRNA	24136188
D010042	Ouabain	Ouabain results in decreased expression of NECTIN3 mRNA	28795476
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of NECTIN3 mRNA	25729387
C016030	pantogab	pantogab results in decreased expression of NECTIN3 mRNA	17379144
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of NECTIN3 mRNA	27153767
D010634	Phenobarbital	Phenobarbital affects the expression of NECTIN3 mRNA	23091169
C006253	pirinixic acid	pirinixic acid results in decreased expression of NECTIN3 mRNA	18445702; 23811191;
C045950	propiconazole	propiconazole results in decreased expression of NECTIN3 mRNA	21278054
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of NECTIN3 mRNA	25825206
D011441	Propylthiouracil	Propylthiouracil results in increased expression of NECTIN3 mRNA	24780913
D012715	Sesame Oil	Sesame Oil results in increased expression of NECTIN3 mRNA	29191790
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of NECTIN3 mRNA	23221170; 29203145;
D012834	Silver	Silver results in decreased expression of NECTIN3 mRNA	27131904
C017947	sodium arsenite	sodium arsenite affects the methylation of NECTIN3 gene	28589171
D012999	Soman	Soman results in increased expression of NECTIN3 mRNA	19281266
D053260	Soot	Soot results in decreased expression of NECTIN3 mRNA	26551751
D004113	Succimer	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of NECTIN3 mRNA	21641980
D000077210	Sunitinib	Sunitinib results in increased expression of NECTIN3 mRNA	31533062
D013629	Tamoxifen	Tamoxifen results in decreased expression of NECTIN3 mRNA	25123088
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of NECTIN3 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NECTIN3 mRNA	19933214
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NECTIN3 mRNA	21215274
D019284	Thapsigargin	Thapsigargin results in increased expression of NECTIN3 mRNA	22378314
C009495	titanium dioxide	titanium dioxide results in decreased expression of NECTIN3 mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of NECTIN3 mRNA	20133372
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of NECTIN3 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of NECTIN3 mRNA	25729387
D014241	Trichloroethylene	Trichloroethylene results in decreased expression of NECTIN3 mRNA	20955722
D000077288	Troglitazone	Troglitazone results in decreased expression of NECTIN3 mRNA	28973697
D014520	Urethane	Urethane results in decreased expression of NECTIN3 mRNA	28818685
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 NECTIN3 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased methylation of NECTIN3 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of NECTIN3 mRNA	23179753; 26272509;
D014635	Valproic Acid	Valproic Acid affects the expression of NECTIN3 mRNA	17963808
C025643	vinclozolin	vinclozolin affects the expression of NECTIN3 mRNA	19015723
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of NECTIN3 mRNA	26682919
D000077337	Vorinostat	Vorinostat results in increased expression of NECTIN3 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0130	Cell adhesion
KW-0965	Cell junction
KW-1003	Cell membrane
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0393	Immunoglobulin domain
KW-0472	Membrane
KW-0621	Polymorphism
KW-0628	Postsynaptic cell membrane
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0770	Synapse
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR013162	CD80_C2-set
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR003599	Ig_sub
IPR013106	Ig_V-set
IPR033319	Nectin-3

PROSITE

PROSITE ID	PROSITE Term
PS50835	IG_LIKE

Pfam

Pfam ID	Pfam Term
PF08205	C2-set_2
PF07686	V-set