CleftGeneDB-Search

Gene: NECTIN2

Basic information

Tag	Content
Uniprot ID	Q92692; A8K5L5; O75455; Q6IBI6; Q96J29;
Entrez ID	5819
Genbank protein ID	AAH03091.1; CAA56342.1; AAD02503.1; EAW57298.1; CAG33099.1; BAF84019.1; AAC82348.1; AAC23797.1;
Genbank nucleotide ID	NM_002856.2; NM_001042724.1;
Ensembl protein ID	ENSP00000252483; ENSP00000252485;
Ensembl nucleotide ID	ENSG00000130202
Gene name	Nectin-2
Gene symbol	NECTIN2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	21462296; 20572854; 20662561; 16641627;
Functional description	Modulator of T-cell signaling. Can be either a costimulator of T-cell function, or a coinhibitor, depending on the receptor it binds to. Upon binding to CD226, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Upon interaction with PVRIG, inhibits T-cell proliferation. These interactions are competitive (PubMed:26755705). Probable cell adhesion protein (PubMed:9657005).
Sequence	MARAAALLPS RSPPTPLLWP LLLLLLLETG AQDVRVQVLP EVRGQLGGTV ELPCHLLPPV 60 PGLYISLVTW QRPDAPANHQ NVAAFHPKMG PSFPSPKPGS ERLSFVSAKQ STGQDTEAEL 120 QDATLALHGL TVEDEGNYTC EFATFPKGSV RGMTWLRVIA KPKNQAEAQK VTFSQDPTTV 180 ALCISKEGRP PARISWLSSL DWEAKETQVS GTLAGTVTVT SRFTLVPSGR ADGVTVTCKV 240 EHESFEEPAL IPVTLSVRYP PEVSISGYDD NWYLGRTDAT LSCDVRSNPE PTGYDWSTTS 300 GTFPTSAVAQ GSQLVIHAVD SLFNTTFVCT VTNAVGMGRA EQVIFVRETP NTAGAGATGG 360 IIGGIIAAII ATAVAATGIL ICRQQRKEQT LQGAEEDEDL EGPPSYKPPT PKAKLEAQEM 420 PSQLFTLGAS EHSPLKTPYF DAGASCTEQE MPRYHELPTL EERSGPLHPG ATSLGSPIPV 480 PPGPPAVEDV SLDLEDEEGE EEEEYLDKIN PIYDALSYSS PSDSYQGKGF VMSRAMYV 538

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

PDB ID
3R0N
4DFH
4DFI
4HZA
5V52
3R0N
4DFH

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	NECTIN2	505580	Q17QC7	Bos taurus	Prediction	More>>
1:1 ortholog	NECTIN2	611060	F1PWL4	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	NECTIN2		A0A452G7Y9	Capra hircus	Prediction	More>>
1:1 ortholog	NECTIN2	100065463	F6YWH3	Equus caballus	Prediction	More>>
1:1 ortholog	NECTIN2	5819	Q92692	Homo sapiens	Publication	More>>
1:1 ortholog	Nectin2	19294	P32507	Mus musculus	Prediction	More>>
1:1 ortholog	NECTIN2	456118	K6ZRP3	Pan troglodytes	Prediction	More>>
1:1 ortholog	NECTIN2	100038012	A2TEQ2	Sus scrofa	Prediction	More>>
1:1 ortholog	Nectin2	308417	A0A0G2KA71	Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs533232752	p.Arg3Gln	missense variant	-	NC_000019.10:g.44846533G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs540348164	p.Ala4Thr	missense variant	-	NC_000019.10:g.44846535G>A	1000Genomes
rs1475196168	p.Leu7Phe	missense variant	-	NC_000019.10:g.44846544C>T	gnomAD
rs1468614650	p.Pro9Leu	missense variant	-	NC_000019.10:g.44846551C>T	gnomAD
rs1406524004	p.Ser10Trp	missense variant	-	NC_000019.10:g.44846554C>G	TOPMed
rs1158215839	p.Arg11Ser	missense variant	-	NC_000019.10:g.44846558A>T	gnomAD
rs1257557221	p.Ser12Leu	missense variant	-	NC_000019.10:g.44846560C>T	TOPMed,gnomAD
rs955455303	p.Pro13Leu	missense variant	-	NC_000019.10:g.44846563C>T	TOPMed,gnomAD
rs1385887873	p.Pro13Ser	missense variant	-	NC_000019.10:g.44846562C>T	gnomAD
rs1374588086	p.Pro14Arg	missense variant	-	NC_000019.10:g.44846566C>G	gnomAD
rs1441933758	p.Thr15Met	missense variant	-	NC_000019.10:g.44846569C>T	TOPMed
rs1415398186	p.Pro16Ser	missense variant	-	NC_000019.10:g.44846571C>T	gnomAD
rs1314758857	p.Pro16Leu	missense variant	-	NC_000019.10:g.44846572C>T	TOPMed,gnomAD
rs759358139	p.Leu18Pro	missense variant	-	NC_000019.10:g.44846578T>C	ExAC,gnomAD
rs1237629832	p.Trp19Ter	stop gained	-	NC_000019.10:g.44846582G>A	gnomAD
rs1008256019	p.Pro20Ser	missense variant	-	NC_000019.10:g.44846583C>T	TOPMed,gnomAD
rs1355347393	p.Leu21Pro	missense variant	-	NC_000019.10:g.44846587T>C	gnomAD
rs767615519	p.Leu25Pro	missense variant	-	NC_000019.10:g.44846599T>C	ExAC,gnomAD
rs961487602	p.Thr29Ser	missense variant	-	NC_000019.10:g.44846611C>G	gnomAD
rs961487602	p.Thr29Ile	missense variant	-	NC_000019.10:g.44846611C>T	gnomAD
rs1192150081	p.Gly30Ala	missense variant	-	NC_000019.10:g.44865271G>C	TOPMed
rs560090685	p.Gly30Arg	missense variant	-	NC_000019.10:g.44846613G>A	1000Genomes,ExAC,gnomAD
rs938872586	p.Ala31Thr	missense variant	-	NC_000019.10:g.44865273G>A	TOPMed
rs1401860288	p.Val34Met	missense variant	-	NC_000019.10:g.44865282G>A	gnomAD
rs770078525	p.Arg35Gln	missense variant	-	NC_000019.10:g.44865286G>A	ExAC,TOPMed,gnomAD
rs1324839040	p.Arg35Gly	missense variant	-	NC_000019.10:g.44865285C>G	gnomAD
rs1303909613	p.Val36Ile	missense variant	-	NC_000019.10:g.44865288G>A	gnomAD
rs759446364	p.Pro40Ser	missense variant	-	NC_000019.10:g.44865300C>T	ExAC,TOPMed,gnomAD
rs759446364	p.Pro40Thr	missense variant	-	NC_000019.10:g.44865300C>A	ExAC,TOPMed,gnomAD
rs369841554	p.Glu41Lys	missense variant	-	NC_000019.10:g.44865303G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu41Gly	missense variant	-	NC_000019.10:g.44865304A>G	NCI-TCGA
rs536775165	p.Val42Leu	missense variant	-	NC_000019.10:g.44865306G>T	ExAC,TOPMed,gnomAD
rs536775165	p.Val42Met	missense variant	-	NC_000019.10:g.44865306G>A	ExAC,TOPMed,gnomAD
rs1488957967	p.Val42Ala	missense variant	-	NC_000019.10:g.44865307T>C	TOPMed,gnomAD
rs553307679	p.Arg43Gln	missense variant	-	NC_000019.10:g.44865310G>A	NCI-TCGA
rs1365743374	p.Arg43Gly	missense variant	-	NC_000019.10:g.44865309C>G	TOPMed
rs553307679	p.Arg43Gln	missense variant	-	NC_000019.10:g.44865310G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1428273498	p.Gly44Cys	missense variant	-	NC_000019.10:g.44865312G>T	TOPMed
NCI-TCGA novel	p.Gln45Ter	stop gained	-	NC_000019.10:g.44865315C>T	NCI-TCGA
COSM1481210	p.Leu46Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44865318C>G	NCI-TCGA Cosmic
rs199754326	p.Gly47Arg	missense variant	-	NC_000019.10:g.44865321G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly48Cys	missense variant	-	NC_000019.10:g.44865324G>T	NCI-TCGA
rs1349919506	p.Thr49Ile	missense variant	-	NC_000019.10:g.44865328C>T	gnomAD
rs373335144	p.Val50Met	missense variant	-	NC_000019.10:g.44865330G>A	ESP,ExAC,TOPMed,gnomAD
rs373335144	p.Val50Met	missense variant	-	NC_000019.10:g.44865330G>A	NCI-TCGA,NCI-TCGA Cosmic
rs568050132	p.Pro53Leu	missense variant	-	NC_000019.10:g.44865340C>T	gnomAD
rs748310923	p.His55Arg	missense variant	-	NC_000019.10:g.44865346A>G	ExAC,gnomAD
rs1391225360	p.Leu56Met	missense variant	-	NC_000019.10:g.44865348C>A	TOPMed
rs934724419	p.Leu57Arg	missense variant	-	NC_000019.10:g.44865352T>G	TOPMed,gnomAD
rs769733604	p.Pro59Thr	missense variant	-	NC_000019.10:g.44865357C>A	ExAC,gnomAD
rs749511472	p.Gly62Glu	missense variant	-	NC_000019.10:g.44865367G>A	ExAC,TOPMed,gnomAD
rs1259115042	p.Tyr64His	missense variant	-	NC_000019.10:g.44865372T>C	gnomAD
COSM3535777	p.Val68Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44865384G>C	NCI-TCGA Cosmic
rs1217007165	p.Thr69Ile	missense variant	-	NC_000019.10:g.44865388C>T	gnomAD
rs1217007165	p.Thr69Ile	missense variant	-	NC_000019.10:g.44865388C>T	NCI-TCGA
rs771223830	p.Arg72Cys	missense variant	-	NC_000019.10:g.44865396C>T	ExAC,TOPMed,gnomAD
rs775452756	p.Arg72His	missense variant	-	NC_000019.10:g.44865397G>A	ExAC,TOPMed,gnomAD
rs775452756	p.Arg72Leu	missense variant	-	NC_000019.10:g.44865397G>T	ExAC,TOPMed,gnomAD
rs775452756	p.Arg72His	missense variant	-	NC_000019.10:g.44865397G>A	NCI-TCGA,NCI-TCGA Cosmic
rs764138184	p.Pro73Arg	missense variant	-	NC_000019.10:g.44865400C>G	ExAC,TOPMed,gnomAD
rs1156502347	p.Ala75Thr	missense variant	-	NC_000019.10:g.44865405G>A	gnomAD
rs146855511	p.Pro76Ala	missense variant	-	NC_000019.10:g.44865408C>G	ESP,ExAC,TOPMed,gnomAD
rs111808500	p.Ala77Val	missense variant	-	NC_000019.10:g.44865412C>T	ESP,ExAC,TOPMed,gnomAD
rs1419509852	p.Ala77Ser	missense variant	-	NC_000019.10:g.44865411G>T	gnomAD
rs111808500	p.Ala77Val	missense variant	-	NC_000019.10:g.44865412C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1413547367	p.Asn78Ser	missense variant	-	NC_000019.10:g.44865415A>G	TOPMed,gnomAD
rs189675289	p.His79Leu	missense variant	-	NC_000019.10:g.44865418A>T	1000Genomes
rs764637662	p.His79Gln	missense variant	-	NC_000019.10:g.44865419C>A	ExAC,TOPMed,gnomAD
rs1380002373	p.Gln80Lys	missense variant	-	NC_000019.10:g.44865420C>A	gnomAD
rs1380002373	p.Gln80Glu	missense variant	-	NC_000019.10:g.44865420C>G	gnomAD
rs749877073	p.Val82Met	missense variant	-	NC_000019.10:g.44865426G>A	ExAC,gnomAD
rs765976897	p.Ala84Thr	missense variant	-	NC_000019.10:g.44865432G>A	ExAC,TOPMed,gnomAD
rs765976897	p.Ala84Thr	missense variant	-	NC_000019.10:g.44865432G>A	NCI-TCGA
rs755277563	p.Met89Val	missense variant	-	NC_000019.10:g.44865447A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly90Asp	missense variant	-	NC_000019.10:g.44865451G>A	NCI-TCGA
rs1287973473	p.Pro91Ser	missense variant	-	NC_000019.10:g.44865453C>T	TOPMed,gnomAD
rs1287973473	p.Pro91Ala	missense variant	-	NC_000019.10:g.44865453C>G	TOPMed,gnomAD
rs750364859	p.Pro94Ser	missense variant	-	NC_000019.10:g.44865462C>T	NCI-TCGA
rs750364859	p.Pro94Ser	missense variant	-	NC_000019.10:g.44865462C>T	-
rs773762080	p.Pro96Leu	missense variant	-	NC_000019.10:g.44865469C>T	NCI-TCGA
rs773762080	p.Pro96Leu	missense variant	-	NC_000019.10:g.44865469C>T	ExAC,gnomAD
rs771297349	p.Ser100Arg	missense variant	-	NC_000019.10:g.44865482C>G	ExAC,gnomAD
rs749337040	p.Ser100Gly	missense variant	-	NC_000019.10:g.44865480A>G	ExAC,TOPMed,gnomAD
rs200611066	p.Glu101Lys	missense variant	-	NC_000019.10:g.44865483G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs746859514	p.Arg102Gln	missense variant	-	NC_000019.10:g.44865487G>A	ExAC,gnomAD
rs1382615952	p.Ser104Ala	missense variant	-	NC_000019.10:g.44865492T>G	gnomAD
rs1360199301	p.Val106Ala	missense variant	-	NC_000019.10:g.44865499T>C	gnomAD
rs761668689	p.Val106Ile	missense variant	-	NC_000019.10:g.44865498G>A	ExAC,TOPMed,gnomAD
rs769652813	p.Ala108Thr	missense variant	-	NC_000019.10:g.44865504G>A	ExAC,gnomAD
rs1483357501	p.Thr112Ser	missense variant	-	NC_000019.10:g.44865517C>G	TOPMed
rs1296561237	p.Thr112Ala	missense variant	-	NC_000019.10:g.44865516A>G	gnomAD
rs1232163371	p.Gly113Glu	missense variant	-	NC_000019.10:g.44865520G>A	TOPMed
rs772739948	p.Ala118Gly	missense variant	-	NC_000019.10:g.44865535C>G	ExAC,gnomAD
rs766070719	p.Gln121Ter	stop gained	-	NC_000019.10:g.44865543C>T	ExAC,gnomAD
rs1313932363	p.Asp122Tyr	missense variant	-	NC_000019.10:g.44865546G>T	gnomAD
COSM3535781	p.Ala123Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44865549G>A	NCI-TCGA Cosmic
rs545950313	p.Thr124Met	missense variant	-	NC_000019.10:g.44865553C>T	1000Genomes,ExAC,gnomAD
rs371523	p.Ala126Pro	missense variant	-	NC_000019.10:g.44865558G>C	1000Genomes,ExAC,gnomAD
rs371523	p.Ala126Thr	missense variant	-	NC_000019.10:g.44865558G>A	1000Genomes,ExAC,gnomAD
rs1250684336	p.Ala126Gly	missense variant	-	NC_000019.10:g.44865559C>G	gnomAD
NCI-TCGA novel	p.Ala126Ser	missense variant	-	NC_000019.10:g.44865558G>T	NCI-TCGA
rs753051882	p.Gly129Arg	missense variant	-	NC_000019.10:g.44865567G>C	ExAC,TOPMed,gnomAD
rs971464182	p.Gly129Glu	missense variant	-	NC_000019.10:g.44865568G>A	gnomAD
rs753051882	p.Gly129Arg	missense variant	-	NC_000019.10:g.44865567G>A	ExAC,TOPMed,gnomAD
rs778371949	p.Thr131Lys	missense variant	-	NC_000019.10:g.44865574C>A	ExAC,TOPMed,gnomAD
rs778371949	p.Thr131Arg	missense variant	-	NC_000019.10:g.44865574C>G	ExAC,TOPMed,gnomAD
rs778371949	p.Thr131Met	missense variant	-	NC_000019.10:g.44865574C>T	ExAC,TOPMed,gnomAD
rs754291150	p.Thr131Ala	missense variant	-	NC_000019.10:g.44865573A>G	TOPMed,gnomAD
rs779342862	p.Glu133Lys	missense variant	-	NC_000019.10:g.44865579G>A	ExAC,gnomAD
rs1392500163	p.Asp134Asn	missense variant	-	NC_000019.10:g.44865582G>A	TOPMed
rs1275265389	p.Glu135Asp	missense variant	-	NC_000019.10:g.44865587G>C	TOPMed,gnomAD
rs1472924166	p.Glu135Lys	missense variant	-	NC_000019.10:g.44865585G>A	TOPMed
rs755458598	p.Glu141Lys	missense variant	-	NC_000019.10:g.44865603G>A	TOPMed,gnomAD
rs1270702063	p.Ser149Pro	missense variant	-	NC_000019.10:g.44865627T>C	gnomAD
COSM3535783	p.Ser149Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44865628C>T	NCI-TCGA Cosmic
rs1199121316	p.Val150Ile	missense variant	-	NC_000019.10:g.44865630G>A	gnomAD
rs1247714186	p.Arg151Ter	stop gained	-	NC_000019.10:g.44865633C>T	gnomAD
rs1479176655	p.Arg151Gln	missense variant	-	NC_000019.10:g.44865634G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Thr154Ala	missense variant	-	NC_000019.10:g.44865642A>G	NCI-TCGA
rs769746436	p.Arg157Gly	missense variant	-	NC_000019.10:g.44865651A>G	ExAC,gnomAD
rs1324596592	p.Ala160Val	missense variant	-	NC_000019.10:g.44871853C>T	gnomAD
NCI-TCGA novel	p.Ala160Ser	missense variant	-	NC_000019.10:g.44865660G>T	NCI-TCGA
rs1238936866	p.Lys161Asn	missense variant	-	NC_000019.10:g.44871857G>C	TOPMed,gnomAD
rs1285886655	p.Asn164Ile	missense variant	-	NC_000019.10:g.44871865A>T	TOPMed
rs745347659	p.Gln165Leu	missense variant	-	NC_000019.10:g.44871868A>T	ExAC,TOPMed,gnomAD
rs1339676779	p.Gln169Glu	missense variant	-	NC_000019.10:g.44871879C>G	TOPMed
rs771668072	p.Lys170Asn	missense variant	-	NC_000019.10:g.44871884G>C	ExAC,TOPMed,gnomAD
rs566602071	p.Thr172Met	missense variant	-	NC_000019.10:g.44871889C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs566602071	p.Thr172Arg	missense variant	-	NC_000019.10:g.44871889C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1441950542	p.Ser174Gly	missense variant	-	NC_000019.10:g.44871894A>G	gnomAD
NCI-TCGA novel	p.Gln175Ter	stop gained	-	NC_000019.10:g.44871897C>T	NCI-TCGA
rs146534542	p.Asp176His	missense variant	-	NC_000019.10:g.44871900G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro177Leu	missense variant	-	NC_000019.10:g.44871904C>T	NCI-TCGA
rs41290104	p.Thr178Met	missense variant	-	NC_000019.10:g.44871907C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41290104	p.Thr178Lys	missense variant	-	NC_000019.10:g.44871907C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41290104	p.Thr178Arg	missense variant	-	NC_000019.10:g.44871907C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1380699582	p.Ala181Ser	missense variant	-	NC_000019.10:g.44871915G>T	gnomAD
NCI-TCGA novel	p.Cys183Ter	stop gained	-	NC_000019.10:g.44871923C>A	NCI-TCGA
NCI-TCGA novel	p.Lys186Glu	missense variant	-	NC_000019.10:g.44871930A>G	NCI-TCGA
rs777560306	p.Arg189Leu	missense variant	-	NC_000019.10:g.44871940G>T	ExAC,gnomAD
rs777560306	p.Arg189His	missense variant	-	NC_000019.10:g.44871940G>A	ExAC,gnomAD
rs755963650	p.Arg189Cys	missense variant	-	NC_000019.10:g.44871939C>T	ExAC,TOPMed,gnomAD
rs967923006	p.Pro190Leu	missense variant	-	NC_000019.10:g.44871943C>T	TOPMed
rs368183799	p.Arg193Leu	missense variant	-	NC_000019.10:g.44871952G>T	ESP,ExAC,TOPMed,gnomAD
rs368183799	p.Arg193Gln	missense variant	-	NC_000019.10:g.44871952G>A	ESP,ExAC,TOPMed,gnomAD
rs375673662	p.Arg193Trp	missense variant	-	NC_000019.10:g.44871951C>T	ESP,ExAC,TOPMed,gnomAD
rs1354878051	p.Ile194Met	missense variant	-	NC_000019.10:g.44871956C>G	gnomAD
COSM4390793	p.Ser195Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44871958C>T	NCI-TCGA Cosmic
rs1336463102	p.Leu200Met	missense variant	-	NC_000019.10:g.44871972C>A	gnomAD
rs556933455	p.Glu203Lys	missense variant	-	NC_000019.10:g.44871981G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771603522	p.Thr207Ser	missense variant	-	NC_000019.10:g.44871994C>G	ExAC,TOPMed,gnomAD
rs775061127	p.Gln208His	missense variant	-	NC_000019.10:g.44871998G>T	ExAC,gnomAD
rs746671135	p.Thr212Ser	missense variant	-	NC_000019.10:g.44872008A>T	ExAC,gnomAD
rs746671135	p.Thr212Ala	missense variant	-	NC_000019.10:g.44872008A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu213Met	missense variant	-	NC_000019.10:g.44872011C>A	NCI-TCGA
rs762229036	p.Gly215Arg	missense variant	-	NC_000019.10:g.44872017G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr216Ser	missense variant	-	NC_000019.10:g.44872020A>T	NCI-TCGA
rs143273446	p.Thr218Ile	missense variant	-	NC_000019.10:g.44872027C>T	ESP,TOPMed,gnomAD
COSM5990672	p.Ser221Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44872036G>T	NCI-TCGA Cosmic
rs148321526	p.Arg222Cys	missense variant	-	NC_000019.10:g.44872038C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773746451	p.Arg222His	missense variant	-	NC_000019.10:g.44872039G>A	ExAC,TOPMed,gnomAD
rs1206466974	p.Leu225Phe	missense variant	-	NC_000019.10:g.44872049G>C	gnomAD
rs141485124	p.Ser228Leu	missense variant	-	NC_000019.10:g.44872057C>T	ESP,ExAC,TOPMed,gnomAD
rs141485124	p.Ser228Trp	missense variant	-	NC_000019.10:g.44872057C>G	ESP,ExAC,TOPMed,gnomAD
rs1233393837	p.Ser228Ala	missense variant	-	NC_000019.10:g.44872056T>G	gnomAD
rs1407564891	p.Gly229Ala	missense variant	-	NC_000019.10:g.44872060G>C	TOPMed
rs201181667	p.Arg230Gln	missense variant	-	NC_000019.10:g.44872063G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1331661238	p.Arg230Ter	stop gained	-	NC_000019.10:g.44872062C>T	TOPMed,gnomAD
rs1331661238	p.Arg230Gly	missense variant	-	NC_000019.10:g.44872062C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ala231Thr	missense variant	-	NC_000019.10:g.44872065G>A	NCI-TCGA
NCI-TCGA novel	p.Asp232Gly	missense variant	-	NC_000019.10:g.44872069A>G	NCI-TCGA
rs1438236068	p.Val234Ile	missense variant	-	NC_000019.10:g.44872074G>A	gnomAD
rs980389291	p.Val234Ala	missense variant	-	NC_000019.10:g.44872075T>C	TOPMed
rs146983303	p.Thr235Met	missense variant	-	NC_000019.10:g.44872078C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3535785	p.Lys239Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44872089A>G	NCI-TCGA Cosmic
rs1158732439	p.Glu241Asp	missense variant	-	NC_000019.10:g.44872097G>C	TOPMed
rs1413109177	p.Glu241Lys	missense variant	-	NC_000019.10:g.44872095G>A	TOPMed
rs1258212776	p.Ser244Asn	missense variant	-	NC_000019.10:g.44872105G>A	gnomAD
rs138153191	p.Glu246Lys	missense variant	-	NC_000019.10:g.44872110G>A	ESP,ExAC,TOPMed,gnomAD
rs138153191	p.Glu246Gln	missense variant	-	NC_000019.10:g.44872110G>C	ESP,ExAC,TOPMed,gnomAD
rs1164086382	p.Val253Leu	missense variant	-	NC_000019.10:g.44872131G>T	gnomAD
COSM1304760	p.Ser256Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44872141C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val257Ala	missense variant	-	NC_000019.10:g.44872144T>C	NCI-TCGA
rs768454344	p.Arg258Ser	missense variant	-	NC_000019.10:g.44872146C>A	ExAC,TOPMed,gnomAD
rs748572069	p.Arg258Leu	missense variant	-	NC_000019.10:g.44872147G>T	ExAC,TOPMed,gnomAD
rs748572069	p.Arg258His	missense variant	-	NC_000019.10:g.44872147G>A	ExAC,TOPMed,gnomAD
rs768454344	p.Arg258Cys	missense variant	-	NC_000019.10:g.44872146C>T	ExAC,TOPMed,gnomAD
rs774804740	p.Tyr259Phe	missense variant	-	NC_000019.10:g.44873916A>T	ExAC,gnomAD
rs773657977	p.Tyr259His	missense variant	-	NC_000019.10:g.44872149T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro261Ser	missense variant	-	NC_000019.10:g.44873921C>T	NCI-TCGA
rs1299283019	p.Ser266Phe	missense variant	-	NC_000019.10:g.44873937C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser266Ala	missense variant	-	NC_000019.10:g.44873936T>G	NCI-TCGA
rs775484098	p.Gly267Ser	missense variant	-	NC_000019.10:g.44873939G>A	ExAC,TOPMed,gnomAD
rs1322607339	p.Asp270Asn	missense variant	-	NC_000019.10:g.44873948G>A	gnomAD
rs773091984	p.Gly275Arg	missense variant	-	NC_000019.10:g.44873963G>C	ExAC,TOPMed,gnomAD
rs773091984	p.Gly275Ser	missense variant	-	NC_000019.10:g.44873963G>A	ExAC,TOPMed,gnomAD
rs766468871	p.Arg276His	missense variant	-	NC_000019.10:g.44873967G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg276Cys	missense variant	-	NC_000019.10:g.44873966C>T	NCI-TCGA
rs1265193837	p.Thr277Ile	missense variant	-	NC_000019.10:g.44873970C>T	gnomAD
rs1350904164	p.Asp278Val	missense variant	-	NC_000019.10:g.44873973A>T	TOPMed
rs1180823563	p.Thr280Ile	missense variant	-	NC_000019.10:g.44873979C>T	gnomAD
rs754602199	p.Ser282Asn	missense variant	-	NC_000019.10:g.44873985G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser282Ile	missense variant	-	NC_000019.10:g.44873985G>T	NCI-TCGA
rs752088661	p.Val285Ile	missense variant	-	NC_000019.10:g.44873993G>A	ExAC,TOPMed,gnomAD
rs1159818423	p.Arg286Cys	missense variant	-	NC_000019.10:g.44873996C>T	TOPMed,gnomAD
rs149575863	p.Arg286His	missense variant	-	NC_000019.10:g.44873997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser287Asn	missense variant	-	NC_000019.10:g.44874000G>A	NCI-TCGA
rs1321960045	p.Pro289Thr	missense variant	-	NC_000019.10:g.44874005C>A	TOPMed
rs1029585936	p.Thr292Met	missense variant	-	NC_000019.10:g.44874015C>T	TOPMed,gnomAD
rs777248215	p.Gly293Val	missense variant	-	NC_000019.10:g.44874018G>T	ExAC,gnomAD
rs777248215	p.Gly293Asp	missense variant	-	NC_000019.10:g.44874018G>A	ExAC,gnomAD
rs757608722	p.Asp295Asn	missense variant	-	NC_000019.10:g.44874023G>A	ExAC,gnomAD
rs569076872	p.Ser297Ile	missense variant	-	NC_000019.10:g.44874030G>T	1000Genomes,ExAC,gnomAD
rs1249666029	p.Ser297Arg	missense variant	-	NC_000019.10:g.44874029A>C	TOPMed,gnomAD
rs147220114	p.Thr298Met	missense variant	-	NC_000019.10:g.44874033C>T	ESP,ExAC,TOPMed,gnomAD
rs756840122	p.Ser300Leu	missense variant	-	NC_000019.10:g.44874335C>T	ExAC,TOPMed,gnomAD
rs746185511	p.Thr302Ala	missense variant	-	NC_000019.10:g.44874340A>G	ExAC,TOPMed,gnomAD
COSM5030000	p.Thr302Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44874341C>T	NCI-TCGA Cosmic
COSM3823389	p.Phe303Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44874345C>A	NCI-TCGA Cosmic
rs545003891	p.Pro304Leu	missense variant	-	NC_000019.10:g.44874347C>T	ExAC,gnomAD
rs180859792	p.Thr305Asn	missense variant	-	NC_000019.10:g.44874350C>A	1000Genomes,ExAC
rs748385939	p.Ala307Thr	missense variant	-	NC_000019.10:g.44874355G>A	ExAC,TOPMed,gnomAD
rs770083015	p.Val308Met	missense variant	-	NC_000019.10:g.44874358G>A	ExAC,TOPMed,gnomAD
rs770083015	p.Val308Leu	missense variant	-	NC_000019.10:g.44874358G>C	ExAC,TOPMed,gnomAD
rs373607741	p.Val315Ile	missense variant	-	NC_000019.10:g.44874379G>A	ExAC,gnomAD
rs373607741	p.Val315Leu	missense variant	-	NC_000019.10:g.44874379G>C	ExAC,gnomAD
rs760302847	p.Ile316Val	missense variant	-	NC_000019.10:g.44874382A>G	ExAC,gnomAD
rs1435447572	p.Ala318Val	missense variant	-	NC_000019.10:g.44874389C>T	gnomAD
rs199763683	p.Ala318Thr	missense variant	-	NC_000019.10:g.44874388G>A	ESP,ExAC,TOPMed,gnomAD
rs761478093	p.Val319Ala	missense variant	-	NC_000019.10:g.44874392T>C	ExAC,gnomAD
rs549210950	p.Asp320Tyr	missense variant	-	NC_000019.10:g.44874394G>T	1000Genomes,ExAC,gnomAD
rs549210950	p.Asp320Asn	missense variant	-	NC_000019.10:g.44874394G>A	1000Genomes,ExAC,gnomAD
rs149249308	p.Ser321Gly	missense variant	-	NC_000019.10:g.44874397A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1281332422	p.Leu322Val	missense variant	-	NC_000019.10:g.44874400C>G	TOPMed
rs752004986	p.Phe323Leu	missense variant	-	NC_000019.10:g.44874405C>G	ExAC,gnomAD
rs1282385297	p.Asn324Asp	missense variant	-	NC_000019.10:g.44874406A>G	TOPMed,gnomAD
rs748189641	p.Val328Ile	missense variant	-	NC_000019.10:g.44874418G>A	ExAC,TOPMed,gnomAD
rs748189641	p.Val328Leu	missense variant	-	NC_000019.10:g.44874418G>C	ExAC,TOPMed,gnomAD
COSM1153394	p.Cys329Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44874422G>A	NCI-TCGA Cosmic
rs770168981	p.Thr330Ile	missense variant	-	NC_000019.10:g.44874425C>T	ExAC,gnomAD
rs558633830	p.Val335Met	missense variant	-	NC_000019.10:g.44874439G>A	ExAC,gnomAD
rs1192110866	p.Met337Ile	missense variant	-	NC_000019.10:g.44874447G>A	gnomAD
rs771747845	p.Arg339Ser	missense variant	-	NC_000019.10:g.44874451C>A	ExAC,TOPMed,gnomAD
rs775292300	p.Arg339His	missense variant	-	NC_000019.10:g.44874452G>A	ExAC,TOPMed,gnomAD
rs771747845	p.Arg339Cys	missense variant	-	NC_000019.10:g.44874451C>T	ExAC,TOPMed,gnomAD
rs760547048	p.Ala340Thr	missense variant	-	NC_000019.10:g.44874454G>A	ExAC,gnomAD
rs537615455	p.Glu341Gln	missense variant	-	NC_000019.10:g.44874457G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln342Lys	missense variant	-	NC_000019.10:g.44874460C>A	NCI-TCGA
rs1367207417	p.Val343Ile	missense variant	-	NC_000019.10:g.44874463G>A	gnomAD
rs761283169	p.Ile344Val	missense variant	-	NC_000019.10:g.44874466A>G	ExAC,gnomAD
rs1297446216	p.Arg347Ter	stop gained	-	NC_000019.10:g.44874475C>T	gnomAD
rs764920117	p.Arg347Gln	missense variant	-	NC_000019.10:g.44874476G>A	ExAC,TOPMed,gnomAD
rs1404261792	p.Thr349Pro	missense variant	-	NC_000019.10:g.44882213A>C	gnomAD
rs1303627597	p.Thr349Asn	missense variant	-	NC_000019.10:g.44882214C>A	TOPMed,gnomAD
rs750006918	p.Gly354Ser	missense variant	-	NC_000019.10:g.44882228G>A	ExAC,gnomAD
rs187706273	p.Ala355Ser	missense variant	-	NC_000019.10:g.44882231G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs187706273	p.Ala355Thr	missense variant	-	NC_000019.10:g.44882231G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1313349290	p.Gly356Glu	missense variant	-	NC_000019.10:g.44882235G>A	TOPMed
rs897853339	p.Gly359Asp	missense variant	-	NC_000019.10:g.44882244G>A	gnomAD
rs779920811	p.Gly359Ser	missense variant	-	NC_000019.10:g.44882243G>A	ExAC,gnomAD
rs374154770	p.Gly360Ser	missense variant	-	NC_000019.10:g.44882246G>A	ESP,ExAC,TOPMed,gnomAD
rs781638330	p.Ile361Ser	missense variant	-	NC_000019.10:g.44882250T>G	ExAC,gnomAD
rs376327646	p.Gly363Arg	missense variant	-	NC_000019.10:g.44882255G>A	ESP,ExAC,TOPMed,gnomAD
rs1241581848	p.Ile365Thr	missense variant	-	NC_000019.10:g.44882262T>C	gnomAD
rs773570140	p.Ile366Met	missense variant	-	NC_000019.10:g.44882266C>G	ExAC,TOPMed,gnomAD
rs1188434646	p.Ala367Thr	missense variant	-	NC_000019.10:g.44882267G>A	TOPMed,gnomAD
rs371004925	p.Ala368Thr	missense variant	-	NC_000019.10:g.44882270G>A	ESP,ExAC,TOPMed,gnomAD
rs374589262	p.Ile370Thr	missense variant	-	NC_000019.10:g.44882277T>C	ESP,ExAC,TOPMed,gnomAD
rs759764650	p.Ala371Thr	missense variant	-	NC_000019.10:g.44882279G>A	ExAC,gnomAD
rs1417759969	p.Ala375Val	missense variant	-	NC_000019.10:g.44882292C>T	gnomAD
rs540886913	p.Thr377Arg	missense variant	-	NC_000019.10:g.44882298C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs540886913	p.Thr377Met	missense variant	-	NC_000019.10:g.44882298C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1432479665	p.Leu380Pro	missense variant	-	NC_000019.10:g.44882307T>C	gnomAD
rs1478682047	p.Ile381Phe	missense variant	-	NC_000019.10:g.44882309A>T	TOPMed
rs1282018850	p.Cys382Tyr	missense variant	-	NC_000019.10:g.44882313G>A	gnomAD
rs761494937	p.Arg383Trp	missense variant	-	NC_000019.10:g.44882315C>T	ExAC,TOPMed,gnomAD
rs554767906	p.Arg383Gln	missense variant	-	NC_000019.10:g.44882316G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1487127908	p.Gln384Leu	missense variant	-	NC_000019.10:g.44882319A>T	TOPMed
rs750383012	p.Gln385Ter	stop gained	-	NC_000019.10:g.44882321C>T	ExAC,gnomAD
rs368892165	p.Arg386Gly	missense variant	-	NC_000019.10:g.44882324C>G	ESP,ExAC,TOPMed,gnomAD
rs751066324	p.Arg386Gln	missense variant	-	NC_000019.10:g.44882325G>A	ExAC,TOPMed,gnomAD
rs368892165	p.Arg386Trp	missense variant	-	NC_000019.10:g.44882324C>T	ESP,ExAC,TOPMed,gnomAD
rs539311376	p.Thr390Met	missense variant	-	NC_000019.10:g.44882337C>T	TOPMed,gnomAD
rs1218238466	p.Thr390Ala	missense variant	-	NC_000019.10:g.44882336A>G	gnomAD
rs780676139	p.Gly393Arg	missense variant	-	NC_000019.10:g.44882345G>A	ExAC,gnomAD
rs956376895	p.Glu395Gln	missense variant	-	NC_000019.10:g.44882351G>C	TOPMed
rs1386840641	p.Glu395Gly	missense variant	-	NC_000019.10:g.44882352A>G	gnomAD
rs1437759074	p.Asp397Asn	missense variant	-	NC_000019.10:g.44882357G>A	gnomAD
rs868353224	p.Glu398Lys	missense variant	-	NC_000019.10:g.44882360G>A	TOPMed,gnomAD
rs887862130	p.Asp399Glu	missense variant	-	NC_000019.10:g.44885937C>G	TOPMed
rs756420943	p.Asp399Ala	missense variant	-	NC_000019.10:g.44882364A>C	ExAC,gnomAD
rs1966960	p.Glu401Gln	missense variant	-	NC_000019.10:g.44885941G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1966960	p.Glu401Lys	missense variant	-	NC_000019.10:g.44885941G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368726989	p.Gly402Arg	missense variant	-	NC_000019.10:g.44885944G>A	ESP,ExAC,TOPMed,gnomAD
rs754151080	p.Pro403Thr	missense variant	-	NC_000019.10:g.44885947C>A	ExAC,gnomAD
rs757790349	p.Pro403Leu	missense variant	-	NC_000019.10:g.44885948C>T	ExAC,TOPMed,gnomAD
rs571919329	p.Pro404Leu	missense variant	-	NC_000019.10:g.44885951C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs779374468	p.Pro404Ser	missense variant	-	NC_000019.10:g.44885950C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys407SerPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.44885959A>-	NCI-TCGA
rs200070038	p.Pro408Thr	missense variant	-	NC_000019.10:g.44885962C>A	1000Genomes,ExAC,gnomAD
rs747210117	p.Pro408Leu	missense variant	-	NC_000019.10:g.44885963C>T	ExAC,TOPMed,gnomAD
rs1267571210	p.Pro409Thr	missense variant	-	NC_000019.10:g.44885965C>A	gnomAD
rs1388229065	p.Pro409Leu	missense variant	-	NC_000019.10:g.44885966C>T	TOPMed,gnomAD
rs888979799	p.Pro411Arg	missense variant	-	NC_000019.10:g.44885972C>G	TOPMed,gnomAD
rs1178177959	p.Pro411Ala	missense variant	-	NC_000019.10:g.44885971C>G	gnomAD
rs773174479	p.Lys412Glu	missense variant	-	NC_000019.10:g.44885974A>G	ExAC,TOPMed,gnomAD
rs762809930	p.Ala413Val	missense variant	-	NC_000019.10:g.44885978C>T	ExAC,TOPMed,gnomAD
rs762809930	p.Ala413Gly	missense variant	-	NC_000019.10:g.44885978C>G	ExAC,TOPMed,gnomAD
rs1345005457	p.Met420Leu	missense variant	-	NC_000019.10:g.44885998A>C	gnomAD
rs1278651004	p.Pro421Ser	missense variant	-	NC_000019.10:g.44886133C>T	gnomAD
rs1314079913	p.Ser422Pro	missense variant	-	NC_000019.10:g.44886136T>C	gnomAD
COSM3892847	p.Ser422Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44886137C>T	NCI-TCGA Cosmic
rs1224619707	p.Leu424Phe	missense variant	-	NC_000019.10:g.44886142C>T	gnomAD
NCI-TCGA novel	p.Leu424Ile	missense variant	-	NC_000019.10:g.44886142C>A	NCI-TCGA
rs1213180229	p.Leu427Pro	missense variant	-	NC_000019.10:g.44886152T>C	TOPMed
rs372483575	p.Leu427Val	missense variant	-	NC_000019.10:g.44886151C>G	ESP,ExAC,gnomAD
rs761393507	p.Ala429Ser	missense variant	-	NC_000019.10:g.44886157G>T	ExAC,gnomAD
rs761393507	p.Ala429Thr	missense variant	-	NC_000019.10:g.44886157G>A	ExAC,gnomAD
rs1023957228	p.Ser430Leu	missense variant	-	NC_000019.10:g.44886161C>T	TOPMed
rs766880329	p.Glu431Lys	missense variant	-	NC_000019.10:g.44886163G>A	ExAC
rs369292779	p.His432Gln	missense variant	-	NC_000019.10:g.44886168C>A	ESP,ExAC,gnomAD
rs1167455637	p.Ser433Gly	missense variant	-	NC_000019.10:g.44886169A>G	gnomAD
rs948262138	p.Ser433Arg	missense variant	-	NC_000019.10:g.44886171C>A	TOPMed,gnomAD
rs755094135	p.Ser433Asn	missense variant	-	NC_000019.10:g.44886170G>A	ExAC,gnomAD
rs781628582	p.Leu435Val	missense variant	-	NC_000019.10:g.44886175C>G	ExAC,TOPMed,gnomAD
rs756342561	p.Tyr439Ter	stop gained	-	NC_000019.10:g.44886189C>A	ExAC,TOPMed,gnomAD
rs748386034	p.Tyr439Cys	missense variant	-	NC_000019.10:g.44886188A>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe440Ile	missense variant	-	NC_000019.10:g.44886190T>A	NCI-TCGA
COSM3422921	p.Ala442Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44886197C>T	NCI-TCGA Cosmic
rs533933961	p.Ala444Ser	missense variant	-	NC_000019.10:g.44886202G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs533933961	p.Ala444Thr	missense variant	-	NC_000019.10:g.44886202G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1239201070	p.Thr447Ile	missense variant	-	NC_000019.10:g.44886212C>T	gnomAD
rs933325464	p.Glu448Gln	missense variant	-	NC_000019.10:g.44886214G>C	TOPMed,gnomAD
rs933325464	p.Glu448Ter	stop gained	-	NC_000019.10:g.44886214G>T	TOPMed,gnomAD
rs562259475	p.Glu448Gly	missense variant	-	NC_000019.10:g.44886215A>G	1000Genomes,ExAC,gnomAD
rs1343133196	p.Glu450Lys	missense variant	-	NC_000019.10:g.44888110G>A	gnomAD
COSM4925522	p.Glu450Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44888110G>T	NCI-TCGA Cosmic
rs1403840551	p.Met451Arg	missense variant	-	NC_000019.10:g.44888114T>G	gnomAD
rs1320280932	p.Arg453Ter	stop gained	-	NC_000019.10:g.44888119C>T	gnomAD
rs200219163	p.Arg453Gln	missense variant	-	NC_000019.10:g.44888120G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1276887019	p.Tyr454Cys	missense variant	-	NC_000019.10:g.44888123A>G	TOPMed
rs772905208	p.His455Gln	missense variant	-	NC_000019.10:g.44888127T>G	ExAC
rs1369356724	p.His455Asn	missense variant	-	NC_000019.10:g.44888125C>A	gnomAD
COSM1304762	p.Glu456Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44888128G>C	NCI-TCGA Cosmic
rs371503602	p.Arg463Trp	missense variant	-	NC_000019.10:g.44888149C>T	ESP,ExAC,TOPMed,gnomAD
rs377257667	p.Arg463Gln	missense variant	-	NC_000019.10:g.44888150G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377257667	p.Arg463Leu	missense variant	-	NC_000019.10:g.44888150G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1489997481	p.Gly465Arg	missense variant	-	NC_000019.10:g.44888155G>A	gnomAD
rs768094330	p.Pro466Leu	missense variant	-	NC_000019.10:g.44888159C>T	ExAC,gnomAD
COSM4079225	p.Pro466Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44888158C>T	NCI-TCGA Cosmic
rs541171835	p.His468Tyr	missense variant	-	NC_000019.10:g.44888164C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs375345903	p.Pro469Thr	missense variant	-	NC_000019.10:g.44888167C>A	ESP,TOPMed
rs1399083620	p.Ala471Thr	missense variant	-	NC_000019.10:g.44888173G>A	TOPMed
rs368065414	p.Thr472Ile	missense variant	-	NC_000019.10:g.44888177C>T	ESP,ExAC,TOPMed,gnomAD
rs779925487	p.Pro477Arg	missense variant	-	NC_000019.10:g.44888192C>G	ExAC,gnomAD
rs145654351	p.Pro479Ser	missense variant	-	NC_000019.10:g.44888197C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754949827	p.Pro479Leu	missense variant	-	NC_000019.10:g.44888198C>T	ExAC,TOPMed,gnomAD
rs747716381	p.Val480Ala	missense variant	-	NC_000019.10:g.44888201T>C	ExAC,gnomAD
rs769341513	p.Pro481His	missense variant	-	NC_000019.10:g.44888204C>A	ExAC,gnomAD
rs769341513	p.Pro481Leu	missense variant	-	NC_000019.10:g.44888204C>T	ExAC,gnomAD
rs777078945	p.Pro482Thr	missense variant	-	NC_000019.10:g.44888206C>A	ExAC,TOPMed,gnomAD
rs777078945	p.Pro482Ala	missense variant	-	NC_000019.10:g.44888206C>G	ExAC,TOPMed,gnomAD
rs1184421564	p.Pro482Arg	missense variant	-	NC_000019.10:g.44888207C>G	TOPMed
rs202150180	p.Pro485Ser	missense variant	-	NC_000019.10:g.44888215C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202150180	p.Pro485Thr	missense variant	-	NC_000019.10:g.44888215C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs774883845	p.Ala486Pro	missense variant	-	NC_000019.10:g.44888218G>C	ExAC,TOPMed,gnomAD
rs1222318406	p.Ala486Val	missense variant	-	NC_000019.10:g.44888219C>T	gnomAD
rs774883845	p.Ala486Thr	missense variant	-	NC_000019.10:g.44888218G>A	ExAC,TOPMed,gnomAD
rs146573265	p.Asp489Glu	missense variant	-	NC_000019.10:g.44888229C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs566257264	p.Val490Ile	missense variant	-	NC_000019.10:g.44888230G>A	ExAC,gnomAD
rs41290128	p.Asp496Asn	missense variant	-	NC_000019.10:g.44888248G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753816043	p.Gly499Arg	missense variant	-	NC_000019.10:g.44888257G>C	ExAC,gnomAD
rs1415353897	p.Glu500Lys	missense variant	-	NC_000019.10:g.44888260G>A	gnomAD
NCI-TCGA novel	p.Glu500Gly	missense variant	-	NC_000019.10:g.44888261A>G	NCI-TCGA
rs532803090	p.Glu501Gly	missense variant	-	NC_000019.10:g.44888264A>G	1000Genomes
rs762131356	p.Glu503Lys	missense variant	-	NC_000019.10:g.44888269G>A	ExAC,TOPMed,gnomAD
rs1436829022	p.Asp507His	missense variant	-	NC_000019.10:g.44888281G>C	gnomAD
rs1436829022	p.Asp507Asn	missense variant	-	NC_000019.10:g.44888281G>A	gnomAD
rs754756680	p.Asp507Gly	missense variant	-	NC_000019.10:g.44888282A>G	ExAC,gnomAD
rs781170524	p.Ile512Val	missense variant	-	NC_000019.10:g.44888296A>G	ExAC,gnomAD
COSM1590147	p.Tyr513Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44888300A>G	NCI-TCGA Cosmic
rs1359044152	p.Asp514Gly	missense variant	-	NC_000019.10:g.44888303A>G	gnomAD
rs777365254	p.Ala515Ser	missense variant	-	NC_000019.10:g.44888305G>T	ExAC,gnomAD
rs372578036	p.Tyr518Cys	missense variant	-	NC_000019.10:g.44888315A>G	ESP,ExAC,TOPMed,gnomAD
rs372578036	p.Tyr518Ser	missense variant	-	NC_000019.10:g.44888315A>C	ESP,ExAC,TOPMed,gnomAD
rs778682885	p.Ser520Arg	missense variant	-	NC_000019.10:g.44888322C>A	ExAC,TOPMed,gnomAD
rs772571469	p.Ser524Phe	missense variant	-	NC_000019.10:g.44888333C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln526His	missense variant	-	NC_000019.10:g.44888340G>T	NCI-TCGA
rs775943080	p.Gly527Asp	missense variant	-	NC_000019.10:g.44888342G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys528Arg	missense variant	-	NC_000019.10:g.44888345A>G	NCI-TCGA
COSM1136216	p.Phe530Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44888351T>C	NCI-TCGA Cosmic
rs1407994800	p.Val531Ala	missense variant	-	NC_000019.10:g.44888354T>C	gnomAD
rs1177017816	p.Met532Val	missense variant	-	NC_000019.10:g.44888356A>G	TOPMed
rs1469937948	p.Met532Lys	missense variant	-	NC_000019.10:g.44888357T>A	TOPMed
rs201595560	p.Arg534Gln	missense variant	-	NC_000019.10:g.44888363G>A	ESP,ExAC,TOPMed,gnomAD
rs201595560	p.Arg534Pro	missense variant	-	NC_000019.10:g.44888363G>C	ESP,ExAC,TOPMed,gnomAD
rs201399507	p.Arg534Trp	missense variant	-	NC_000019.10:g.44888362C>T	1000Genomes,ExAC
rs765502215	p.Met536Lys	missense variant	-	NC_000019.10:g.44888369T>A	ExAC,gnomAD
rs1449845709	p.Val538Met	missense variant	-	NC_000019.10:g.44888374G>A	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	GWASCAT;GWASDB
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	GWASDB
C0019348	Herpes Simplex Infections	group	BEFREE;LHGDN
C0023418	leukemia	disease	BEFREE;LHGDN
C0023470	Myeloid Leukemia	disease	LHGDN
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0026769	Multiple Sclerosis	disease	BEFREE;LHGDN
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032371	Poliomyelitis	disease	BEFREE
C0033839	Pseudorabies	disease	BEFREE
C0079774	Peripheral T-Cell Lymphoma	disease	BEFREE;LHGDN
C0200665	Platelet mean volume determination (procedure)	phenotype	GWASCAT
C0201899	Aspartate aminotransferase measurement	phenotype	GWASDB
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C0202236	Triglycerides measurement	phenotype	GWASDB
C0280100	Solid Neoplasm	phenotype	BEFREE
C0392885	High density lipoprotein measurement	phenotype	GWASCAT;GWASDB
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE
C0553580	Ewings sarcoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1445957	Serum total cholesterol measurement	phenotype	GWASCAT;GWASDB
C1611184	Calcification of coronary artery	phenotype	GWASDB
C1861537	OROFACIAL CLEFT 1	disease	BEFREE
C1956346	Coronary Artery Disease	disease	BEFREE
C3266076	Orofacial cleft	disease	BEFREE
C3714941	OTOFACIOCERVICAL SYNDROME 1	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001618	virus receptor activity	IEA
GO:0005515	protein binding	IPI
GO:0015026	coreceptor activity	TAS
GO:0042802	identical protein binding	IPI
GO:0042803	protein homodimerization activity	IEA
GO:0050839	cell adhesion molecule binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001675	acrosome assembly	IEA
GO:0002860	positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	IMP
GO:0002891	positive regulation of immunoglobulin mediated immune response	IMP
GO:0007010	cytoskeleton organization	IEA
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IDA
GO:0007286	spermatid development	ISS
GO:0007289	spermatid nucleus differentiation	IEA
GO:0009566	fertilization	IEA
GO:0019064	fusion of virus membrane with host plasma membrane	IDA
GO:0030382	sperm mitochondrion organization	IEA
GO:0032990	cell part morphogenesis	IEA
GO:0033005	positive regulation of mast cell activation	IMP
GO:0034332	adherens junction organization	TAS
GO:0042271	susceptibility to natural killer cell mediated cytotoxicity	IMP
GO:0044406	adhesion of symbiont to host	IDA
GO:0044782	cilium organization	IEA
GO:0045954	positive regulation of natural killer cell mediated cytotoxicity	IMP
GO:0046596	regulation of viral entry into host cell	IDA
GO:0046814	coreceptor-mediated virion attachment to host cell	IDA
GO:0050776	regulation of immune response	TAS
GO:0050862	positive regulation of T cell receptor signaling pathway	IDA
GO:0051654	establishment of mitochondrion localization	IEA
GO:0060370	susceptibility to T cell mediated cytotoxicity	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	TAS
GO:0005911	cell-cell junction	IDA
GO:0005915	zonula adherens	ISS
GO:0005925	focal adhesion	HDA
GO:0009986	cell surface	IDA
GO:0016021	integral component of membrane	IDA
GO:0044291	cell-cell contact zone	IEA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1280218	Adaptive Immune System	TAS
R-HSA-1500931	Cell-Cell communication	TAS
R-HSA-168256	Immune System	TAS
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	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
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of NECTIN2 mRNA	22698814
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of NECTIN2 mRNA	29432896
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of NECTIN2 mRNA	25380136; 30723492;
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 NECTIN2 mRNA	19933214
C511621	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide results in decreased expression of NECTIN2 mRNA	29704546
C017906	3-dinitrobenzene	3-dinitrobenzene results in increased expression of NECTIN2 mRNA	21983209
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of NECTIN2 mRNA	25380136
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 decreased expression of NECTIN2 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 NECTIN2 mRNA	20018196
D000082	Acetaminophen	Acetaminophen results in decreased expression of NECTIN2 mRNA	21420995
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of NECTIN2 mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of NECTIN2 mRNA]	17585979
D000082	Acetaminophen	Acetaminophen results in decreased expression of NECTIN2 mRNA	17202762
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of NECTIN2 intron	30157460
D001280	Atrazine	Atrazine results in decreased expression of NECTIN2 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of NECTIN2 mRNA	19770486; 21715664; 22228805;
C006780	bisphenol A	bisphenol A results in decreased expression of NECTIN2 mRNA	25047013
C006780	bisphenol A	bisphenol A results in decreased expression of NECTIN2 mRNA	30245210
C006780	bisphenol A	bisphenol A results in decreased expression of NECTIN2 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of NECTIN2 mRNA	25181051
D019256	Cadmium Chloride	Cadmium Chloride inhibits the reaction [SP1 protein binds to SP3 protein binds to KLF4 protein binds to E2F1 protein binds to NECTIN2 promoter]	25046863
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of and affects the localization of NECTIN2 protein	25046863
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of NECTIN2 mRNA	25046863
D019256	Cadmium Chloride	Chlorpromazine inhibits the reaction [Cadmium Chloride results in decreased expression of and affects the localization of NECTIN2 protein]	25046863
D019256	Cadmium Chloride	CLTC mutant form inhibits the reaction [Cadmium Chloride results in decreased expression of and affects the localization of NECTIN2 protein]	25046863
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of NECTIN2 mRNA	31150632
D002746	Chlorpromazine	Chlorpromazine inhibits the reaction [Cadmium Chloride results in decreased expression of and affects the localization of NECTIN2 protein]	25046863
D002784	Cholesterol	Cholesterol affects the expression of NECTIN2	28062492
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of NECTIN2 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of NECTIN2 mRNA]	17585979
C030123	coumarin	coumarin results in decreased expression of NECTIN2 mRNA	18480146
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of NECTIN2 mRNA	19167446
D003375	Coumestrol	Coumestrol results in decreased expression of NECTIN2 mRNA	19167446
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of NECTIN2 mRNA	21266533
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 decreased expression of NECTIN2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of NECTIN2 mRNA	29803840
D004958	Estradiol	Estradiol affects the expression of NECTIN2 mRNA	22574217
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of NECTIN2 mRNA	23129252
D005047	Etoposide	Etoposide results in decreased expression of NECTIN2 mRNA	25270620
D017313	Fenretinide	Fenretinide results in increased expression of NECTIN2 mRNA	28973697
C061365	flusilazole	flusilazole affects the expression of NECTIN2 mRNA	21195148
D005485	Flutamide	Flutamide results in decreased expression of NECTIN2 mRNA	24136188
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of NECTIN2 mRNA	29432896
D005897	Glafenine	Glafenine results in decreased expression of NECTIN2 mRNA	24136188
C409722	hexaconazole	hexaconazole affects the expression of NECTIN2 mRNA	21195148
D048628	Ketolides	Ketolides analog results in increased expression of NECTIN2 mRNA	24967691
D058185	Magnetite Nanoparticles	[Succimer binds to Magnetite Nanoparticles] which results in increased expression of NECTIN2 mRNA	21641980
D008727	Methotrexate	NECTIN2 protein affects the susceptibility to Methotrexate	16217747
D008727	Methotrexate	Methotrexate affects the expression of NECTIN2 mRNA	18502557
C000627226	momfluorothrin	momfluorothrin results in decreased expression of NECTIN2 mRNA	28520973
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of NECTIN2 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of NECTIN2 mRNA	25554681
C017096	n-butoxyethanol	n-butoxyethanol results in increased expression of NECTIN2 mRNA	19812364
D009532	Nickel	Nickel results in increased expression of NECTIN2 mRNA	24768652
C028007	nickel monoxide	nickel monoxide results in increased expression of NECTIN2 mRNA	19167457
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of NECTIN2 mRNA	25729387
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of NECTIN2 mRNA	29432896
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of NECTIN2 mRNA	18593933
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of NECTIN2 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of NECTIN2 mRNA	18301758; 23811191;
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of NECTIN2 mRNA	29432896
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of NECTIN2 mRNA	28903501
C045950	propiconazole	propiconazole results in decreased expression of NECTIN2 mRNA	21278054
D011441	Propylthiouracil	Propylthiouracil results in increased expression of NECTIN2 mRNA	24780913
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of NECTIN2 mRNA	19167446
D012402	Rotenone	Rotenone results in decreased expression of NECTIN2 mRNA	28374803
D012643	Selenium	Selenium results in increased expression of NECTIN2 mRNA	19244175
D012834	Silver	Silver results in increased expression of NECTIN2 mRNA	28959546
D012999	Soman	Soman results in increased expression of NECTIN2 mRNA	19281266
D004113	Succimer	[Succimer binds to Magnetite Nanoparticles] which results in increased expression of NECTIN2 mRNA	21641980
D000077210	Sunitinib	Sunitinib results in decreased expression of NECTIN2 mRNA	31533062
D013629	Tamoxifen	Tamoxifen affects the expression of NECTIN2 mRNA	20937368
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of NECTIN2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of NECTIN2 mRNA	19770486
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of NECTIN2 mRNA	21215274
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of NECTIN2 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of NECTIN2 mRNA	27404394; 29505817;
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of NECTIN2 mRNA	25729387
C032910	triadimefon	triadimefon affects the expression of NECTIN2 mRNA	21195148
C012589	trichostatin A	trichostatin A results in decreased expression of NECTIN2 mRNA	24935251
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of NECTIN2 mRNA	26179874
C406224	valdecoxib	valdecoxib results in decreased expression of NECTIN2 mRNA	24136188
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 decreased expression of NECTIN2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of NECTIN2 mRNA	26272509
D014635	Valproic Acid	Valproic Acid results in increased expression of NECTIN2 mRNA	23179753; 27188386;
D014640	Vancomycin	Vancomycin results in decreased expression of NECTIN2 mRNA	18930951
C025643	vinclozolin	vinclozolin results in decreased expression of NECTIN2 mRNA	23034163
C025643	vinclozolin	vinclozolin results in increased expression of NECTIN2 mRNA	22570695
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of NECTIN2 mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0130	Cell adhesion
KW-1003	Cell membrane
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-1183	Host cell receptor for virus entry
KW-0945	Host-virus interaction
KW-0393	Immunoglobulin domain
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
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
IPR033318	Nectin-2

PROSITE

PROSITE ID	PROSITE Term
PS50835	IG_LIKE

Pfam

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

Gene: NECTIN2

Basic information

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction