CleftGeneDB-Search

Tag	Content
Uniprot ID	H0Y6V6
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID	ENSP00000408256
Ensembl nucleotide ID	ENSG00000105983
Gene name	Limb region 1 protein homolog
Gene symbol	LMBR1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	GQDEVSAREQ HFHSQVREST ICFLLFAILY VVSYFIITRY KRKSDEQEDE DAIVNRISLF 60 LSTFTLAVSA GAVLLLPFSI ISNEILLSFP QNYYIQWLNG SLIHGLWNLA SLFSNLCLFV 120 LMPFAFFFLE SEGFAGLKKG IRARILETLV MLLLLALLIL GIVWVASALI DNDAASMESL 180 YDLWEFYLPY LYSCISLMGC LLLLLCTPVG LSRMFTVMGQ LLVKPTILED LDEQIYIITL 240 EEEALQRRLN VGMLCAGNPE VATGRQVPEE QAGQLLLGKW IQEGGDMIAN PRLSSSVEYN 300 IMELEQELEN VKTLKTKLER RKKASAWERN LVYPAVMVLL LIETSISVLL VACNILCLLV 360 DETAMPKGTR GPGIGNASLS TFGFVGAALE IILIFYLMVS SVVGFYSLRF FGNFTPKKDD 420 TTMTKIIGNC VSILVLSSAL PVMSRTLGIT RFDLLGDFGR FNWLGNFYIV LSYNLLFAIV 480 TTLCLVRKFT SAVREELFKA LGLHKLHLPN TSRDSETAKP SVNGHQKAL 529

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	LMBR1	482819	A0A5F4D5K8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	LMBR1		A0A452EMH0		Capra hircus	Prediction	More>>
1:1 ortholog	LMBR1		H0Y6V6		Homo sapiens	Prediction	More>>
1:1 ortholog	Lmbr1	56873	Q9JIT0	CPO	Mus musculus	Publication	More>>
1:1 ortholog	LMBR1	739991	H2QZM6		Pan troglodytes	Prediction	More>>
1:1 ortholog	LMBR1		A0A287BKQ1		Sus scrofa	Prediction	More>>
1:1 ortholog	LMBR1	100352265	G1SF20		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Lmbr1		A0A0G2K4B6		Rattus norvegicus	Prediction	More>>

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs752211706	p.Gly1Val	missense variant	-	NC_000007.14:g.156892986C>A	ExAC,gnomAD
rs537237432	p.Gly1Trp	missense variant	-	NC_000007.14:g.156892987C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs537237432	p.Gly1Arg	missense variant	-	NC_000007.14:g.156892987C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764840725	p.Asp3Asn	missense variant	-	NC_000007.14:g.156892981C>T	ExAC,gnomAD
rs931898966	p.Glu4Val	missense variant	-	NC_000007.14:g.156892977T>A	gnomAD
rs139646169	p.Glu4Lys	missense variant	-	NC_000007.14:g.156892978C>T	ESP,ExAC,TOPMed,gnomAD
rs776745429	p.Ser6Leu	missense variant	-	NC_000007.14:g.156892971G>A	ExAC,gnomAD
rs773048809	p.Ala7Val	missense variant	-	NC_000007.14:g.156892968G>A	ExAC,TOPMed,gnomAD
rs760438533	p.Ala7Thr	missense variant	-	NC_000007.14:g.156892969C>T	ExAC,TOPMed,gnomAD
rs772250880	p.Arg8Gln	missense variant	-	NC_000007.14:g.156892965C>T	ExAC
rs1233785171	p.Glu9Lys	missense variant	-	NC_000007.14:g.156892963C>T	TOPMed
rs748407183	p.Gln10Glu	missense variant	-	NC_000007.14:g.156892960G>C	ExAC,gnomAD
rs779049387	p.His11Gln	missense variant	-	NC_000007.14:g.156892955G>C	ExAC,gnomAD
rs1185781023	p.His13Pro	missense variant	-	NC_000007.14:g.156892950T>G	gnomAD
rs768746253	p.Gln15Glu	missense variant	-	NC_000007.14:g.156892945G>C	ExAC,gnomAD
rs147215221	p.Val16Met	missense variant	-	NC_000007.14:g.156892942C>T	ESP,ExAC,TOPMed,gnomAD
rs147215221	p.Val16Leu	missense variant	-	NC_000007.14:g.156892942C>A	ESP,ExAC,TOPMed,gnomAD
rs147215221	p.Val16Leu	missense variant	-	NC_000007.14:g.156892942C>G	ESP,ExAC,TOPMed,gnomAD
rs781612611	p.Glu18Gln	missense variant	-	NC_000007.14:g.156892936C>G	ExAC,gnomAD
rs781612611	p.Glu18Lys	missense variant	-	NC_000007.14:g.156892936C>T	ExAC,gnomAD
rs367632078	p.Ser19Thr	missense variant	-	NC_000007.14:g.156892933A>T	ESP,ExAC,TOPMed,gnomAD
rs764947202	p.Thr20Met	missense variant	-	NC_000007.14:g.156892929G>A	ExAC,gnomAD
rs201837108	p.Ile21Val	missense variant	-	NC_000007.14:g.156836885T>C	gnomAD
rs1345737927	p.Cys22Arg	missense variant	-	NC_000007.14:g.156836882A>G	gnomAD
rs377125442	p.Leu24Phe	missense variant	-	NC_000007.14:g.156836876G>A	ESP,ExAC,TOPMed,gnomAD
rs775620717	p.Ile28Val	missense variant	-	NC_000007.14:g.156836864T>C	ExAC,gnomAD
rs1428338206	p.Tyr30Cys	missense variant	-	NC_000007.14:g.156836857T>C	TOPMed,gnomAD
rs143018746	p.Tyr30Ter	stop gained	-	NC_000007.14:g.156836856G>C	ESP,ExAC,TOPMed,gnomAD
rs1428338206	p.Tyr30Phe	missense variant	-	NC_000007.14:g.156836857T>A	TOPMed,gnomAD
rs777239332	p.Val31Ile	missense variant	-	NC_000007.14:g.156836855C>T	ExAC,TOPMed,gnomAD
rs1392705978	p.Ile37Val	missense variant	-	NC_000007.14:g.156836837T>C	gnomAD
rs1433375243	p.Arg39Ser	missense variant	-	NC_000007.14:g.156836829T>G	gnomAD
rs1281775073	p.Tyr40Ter	stop gained	-	NC_000007.14:g.156836826G>C	gnomAD
rs778280366	p.Arg42Lys	missense variant	-	NC_000007.14:g.156836821C>T	ExAC,gnomAD
rs1487022830	p.Lys43Glu	missense variant	-	NC_000007.14:g.156836819T>C	gnomAD
rs1392587221	p.Gln47Ter	stop gained	-	NC_000007.14:g.156833787G>A	gnomAD
rs1443071553	p.Asp49Gly	missense variant	-	NC_000007.14:g.156833780T>C	TOPMed
rs1265166684	p.Glu50Gln	missense variant	-	NC_000007.14:g.156833778C>G	gnomAD
rs529634450	p.Ile53Val	missense variant	-	NC_000007.14:g.156833769T>C	1000Genomes,ExAC,gnomAD
rs771481264	p.Val54Ile	missense variant	-	NC_000007.14:g.156833766C>T	TOPMed,gnomAD
rs954506791	p.Ile57Val	missense variant	-	NC_000007.14:g.156833757T>C	TOPMed
rs954506791	p.Ile57Leu	missense variant	-	NC_000007.14:g.156833757T>G	TOPMed
rs765557728	p.Ser58Leu	missense variant	-	NC_000007.14:g.156833753G>A	ExAC,gnomAD
rs1239135194	p.Leu59Trp	missense variant	-	NC_000007.14:g.156826742A>C	TOPMed
rs754746046	p.Phe60Leu	missense variant	-	NC_000007.14:g.156826738A>C	ExAC,gnomAD
rs1168058405	p.LeuSer61LeuAsnTerGluSer	stop gained	-	NC_000007.14:g.156826735_156826736insTCTCAGTTC	gnomAD
rs1346708447	p.Ser62Cys	missense variant	-	NC_000007.14:g.156826734T>A	gnomAD
rs754031706	p.Thr63Met	missense variant	-	NC_000007.14:g.156826730G>A	ExAC,gnomAD
rs752539800	p.Ala67Pro	missense variant	-	NC_000007.14:g.156826719C>G	ExAC,TOPMed,gnomAD
rs752539800	p.Ala67Ser	missense variant	-	NC_000007.14:g.156826719C>A	ExAC,TOPMed,gnomAD
rs750507899	p.Val68Ala	missense variant	-	NC_000007.14:g.156826715A>G	ExAC,TOPMed,gnomAD
rs768196611	p.Ala70Thr	missense variant	-	NC_000007.14:g.156826710C>T	ExAC,gnomAD
rs1416198782	p.Gly71Glu	missense variant	-	NC_000007.14:g.156826706C>T	gnomAD
rs1416198782	p.Gly71Val	missense variant	-	NC_000007.14:g.156826706C>A	gnomAD
rs886062121	p.Phe78Leu	missense variant	-	NC_000007.14:g.156826684G>C	-
rs369093558	p.Phe78Leu	missense variant	-	NC_000007.14:g.156826686A>G	ESP,ExAC,gnomAD
rs1233438390	p.Ser79Ter	stop gained	-	NC_000007.14:g.156826682G>C	-
rs770537220	p.Ile80Val	missense variant	-	NC_000007.14:g.156826680T>C	ExAC,gnomAD
rs1278970681	p.Ser82Asn	missense variant	-	NC_000007.14:g.156826673C>T	gnomAD
rs1443573243	p.Ser82Arg	missense variant	-	NC_000007.14:g.156826674T>G	gnomAD
rs1337917129	p.Glu84Lys	missense variant	-	NC_000007.14:g.156826668C>T	gnomAD
rs1355411992	p.Leu87Arg	missense variant	-	NC_000007.14:g.156826658A>C	gnomAD
rs1329133827	p.Pro90Leu	missense variant	-	NC_000007.14:g.156826649G>A	TOPMed
rs1291917188	p.Gln91Ter	stop gained	-	NC_000007.14:g.156826647G>A	gnomAD
rs748052405	p.Asn92Tyr	missense variant	-	NC_000007.14:g.156826644T>A	ExAC,gnomAD
rs1359810496	p.Tyr93Cys	missense variant	-	NC_000007.14:g.156826640T>C	gnomAD
rs778862287	p.Tyr94Asn	missense variant	-	NC_000007.14:g.156826638A>T	ExAC,gnomAD
rs778862287	p.Tyr94Asp	missense variant	-	NC_000007.14:g.156826638A>C	ExAC,gnomAD
rs754763256	p.Tyr94Cys	missense variant	-	NC_000007.14:g.156826637T>C	ExAC,TOPMed,gnomAD
rs1402673877	p.Gln96Glu	missense variant	-	NC_000007.14:g.156826632G>C	gnomAD
rs749078736	p.Leu98Pro	missense variant	-	NC_000007.14:g.156826625A>G	ExAC,gnomAD
rs536909090	p.His104Tyr	missense variant	-	NC_000007.14:g.156826608G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs536909090	p.His104Asp	missense variant	-	NC_000007.14:g.156826608G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs369354246	p.Gly105Cys	missense variant	-	NC_000007.14:g.156826605C>A	ESP,ExAC,TOPMed,gnomAD
rs369354246	p.Gly105Arg	missense variant	-	NC_000007.14:g.156826605C>G	ESP,ExAC,TOPMed,gnomAD
rs1332215021	p.Asn108Lys	missense variant	-	NC_000007.14:g.156796482A>C	gnomAD
rs1440049838	p.Asn108His	missense variant	-	NC_000007.14:g.156796484T>G	gnomAD
rs764618320	p.Asn108Thr	missense variant	-	NC_000007.14:g.156796483T>G	ExAC,gnomAD
rs1447325976	p.Ala110Pro	missense variant	-	NC_000007.14:g.156796478C>G	gnomAD
rs568570543	p.Asn115Ser	missense variant	-	NC_000007.14:g.156796462T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs766091213	p.Leu116Val	missense variant	-	NC_000007.14:g.156796460G>C	ExAC,gnomAD
rs1178863589	p.Cys117Phe	missense variant	-	NC_000007.14:g.156796456C>A	gnomAD
rs772797032	p.Phe119Ser	missense variant	-	NC_000007.14:g.156796450A>G	ExAC,gnomAD
rs771506654	p.Val120Ile	missense variant	-	NC_000007.14:g.156796448C>T	ExAC,gnomAD
rs771506654	p.Val120Leu	missense variant	-	NC_000007.14:g.156796448C>A	ExAC,gnomAD
rs1022908866	p.Ser131Ter	stop gained	-	NC_000007.14:g.156796414G>T	gnomAD
rs1370035308	p.Ala135Pro	missense variant	-	NC_000007.14:g.156796403C>G	TOPMed,gnomAD
rs1291603959	p.Gly136Ser	missense variant	-	NC_000007.14:g.156796400C>T	gnomAD
rs769643837	p.Lys138Arg	missense variant	-	NC_000007.14:g.156796393T>C	ExAC,gnomAD
rs187256493	p.Lys139Asn	missense variant	-	NC_000007.14:g.156796389C>G	1000Genomes,ExAC,gnomAD
rs771159834	p.Gly140Ter	stop gained	-	NC_000007.14:g.156763795C>A	ExAC,gnomAD
rs747128466	p.Gly140Val	missense variant	-	NC_000007.14:g.156763794C>A	ExAC,gnomAD
rs777915846	p.Ile141Val	missense variant	-	NC_000007.14:g.156763792T>C	ExAC,gnomAD
rs758355870	p.Arg142Ter	stop gained	-	NC_000007.14:g.156763789G>A	ExAC,gnomAD
rs201739279	p.Arg142Gln	missense variant	-	NC_000007.14:g.156763788C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200558566	p.Ala143Thr	missense variant	-	NC_000007.14:g.156763786C>T	TOPMed,gnomAD
rs754181857	p.Arg144His	missense variant	-	NC_000007.14:g.156763782C>T	ExAC,gnomAD
rs1200156705	p.Arg144Cys	missense variant	-	NC_000007.14:g.156763783G>A	TOPMed,gnomAD
rs1483238603	p.Thr148Ile	missense variant	-	NC_000007.14:g.156763770G>A	TOPMed
rs1449557838	p.Thr148Ala	missense variant	-	NC_000007.14:g.156763771T>C	gnomAD
rs751104463	p.Leu149Val	missense variant	-	NC_000007.14:g.156763768A>C	ExAC,gnomAD
rs763674051	p.Leu149Phe	missense variant	-	NC_000007.14:g.156763766C>G	ExAC,TOPMed,gnomAD
rs763674051	p.Leu149Phe	missense variant	-	NC_000007.14:g.156763766C>A	ExAC,TOPMed,gnomAD
rs145045413	p.Val150Ile	missense variant	-	NC_000007.14:g.156763765C>T	1000Genomes,gnomAD
rs762502936	p.Met151Val	missense variant	-	NC_000007.14:g.156763762T>C	ExAC,gnomAD
rs775595886	p.Met151Ile	missense variant	-	NC_000007.14:g.156763760C>T	ExAC,gnomAD
rs483352752	p.Leu152Ile	missense variant	-	NC_000007.14:g.156763759G>T	-
rs1180731210	p.Leu154Ile	missense variant	-	NC_000007.14:g.156763753G>T	gnomAD
rs776470632	p.Ala156Gly	missense variant	-	NC_000007.14:g.156763746G>C	ExAC,TOPMed,gnomAD
rs1418410790	p.Ala156Pro	missense variant	-	NC_000007.14:g.156763747C>G	TOPMed
rs776470632	p.Ala156Val	missense variant	-	NC_000007.14:g.156763746G>A	ExAC,TOPMed,gnomAD
rs1198850228	p.Leu160Phe	missense variant	-	NC_000007.14:g.156763735G>A	TOPMed,gnomAD
rs1414481090	p.Val163Ala	missense variant	-	NC_000007.14:g.156763725A>G	TOPMed
rs773262138	p.Trp164Cys	missense variant	-	NC_000007.14:g.156763721C>A	ExAC,gnomAD
rs773262138	p.Trp164Ter	stop gained	-	NC_000007.14:g.156763721C>T	ExAC,gnomAD
rs1244892651	p.Trp164Ter	stop gained	-	NC_000007.14:g.156763722C>T	gnomAD
rs1306708103	p.Val165Leu	missense variant	-	NC_000007.14:g.156763720C>A	TOPMed,gnomAD
rs772174594	p.Val165Ala	missense variant	-	NC_000007.14:g.156763719A>G	ExAC,gnomAD
rs779445709	p.Ala168Val	missense variant	-	NC_000007.14:g.156763710G>A	ExAC,gnomAD
rs755466895	p.Leu169His	missense variant	-	NC_000007.14:g.156763707A>T	ExAC,gnomAD
rs1448926584	p.Leu169Phe	missense variant	-	NC_000007.14:g.156763708G>A	TOPMed
rs149171555	p.Ile170Thr	missense variant	-	NC_000007.14:g.156763704A>G	1000Genomes,ExAC,gnomAD
rs756376000	p.Asn172Lys	missense variant	-	NC_000007.14:g.156763697G>T	ExAC,TOPMed,gnomAD
rs1027367161	p.Asp173Asn	missense variant	-	NC_000007.14:g.156763696C>T	TOPMed,gnomAD
rs148974610	p.Ala175Thr	missense variant	-	NC_000007.14:g.156763690C>T	ESP,ExAC,TOPMed,gnomAD
rs1276487383	p.Met177Ile	missense variant	-	NC_000007.14:g.156763682C>T	TOPMed
rs138964269	p.Met177Leu	missense variant	-	NC_000007.14:g.156763684T>A	ESP,ExAC,TOPMed,gnomAD
rs138964269	p.Met177Val	missense variant	-	NC_000007.14:g.156763684T>C	ESP,ExAC,TOPMed,gnomAD
rs759554435	p.Leu180Ser	missense variant	-	NC_000007.14:g.156763674A>G	ExAC,gnomAD
rs776377614	p.Tyr181Cys	missense variant	-	NC_000007.14:g.156763671T>C	ExAC,gnomAD
rs758107963	p.Leu183Arg	missense variant	-	NC_000007.14:g.156763173A>C	ExAC,gnomAD
rs1379135669	p.Glu185Lys	missense variant	-	NC_000007.14:g.156763168C>T	gnomAD
rs1199542400	p.Tyr190Cys	missense variant	-	NC_000007.14:g.156763152T>C	gnomAD
rs980479868	p.Ile195Leu	missense variant	-	NC_000007.14:g.156763138T>A	TOPMed
rs1260874225	p.Ile195Met	missense variant	-	NC_000007.14:g.156763136T>C	TOPMed,gnomAD
rs980479868	p.Ile195Val	missense variant	-	NC_000007.14:g.156763138T>C	TOPMed
rs573615009	p.Met198Arg	missense variant	-	NC_000007.14:g.156763128A>C	gnomAD
rs1488328249	p.Gly199Glu	missense variant	-	NC_000007.14:g.156763125C>T	gnomAD
rs1455915226	p.Cys200Tyr	missense variant	-	NC_000007.14:g.156763122C>T	gnomAD
rs752319315	p.Leu202Ser	missense variant	-	NC_000007.14:g.156763116A>G	ExAC,gnomAD
rs1347623645	p.Leu203Val	missense variant	-	NC_000007.14:g.156763114G>C	gnomAD
rs1473454383	p.Cys206Arg	missense variant	-	NC_000007.14:g.156762196A>G	TOPMed,gnomAD
rs1368752969	p.Cys206Tyr	missense variant	-	NC_000007.14:g.156762195C>T	gnomAD
rs761544977	p.Val209Ile	missense variant	-	NC_000007.14:g.156762187C>T	ExAC,TOPMed,gnomAD
rs1456757055	p.Gly210Asp	missense variant	-	NC_000007.14:g.156762183C>T	gnomAD
rs764269813	p.Ser212Pro	missense variant	-	NC_000007.14:g.156762178A>G	ExAC,TOPMed,gnomAD
rs763139081	p.Arg213Cys	missense variant	-	NC_000007.14:g.156762175G>A	ExAC,gnomAD
rs775415352	p.Arg213His	missense variant	-	NC_000007.14:g.156762174C>T	ExAC,TOPMed,gnomAD
rs770397280	p.Met214Leu	missense variant	-	NC_000007.14:g.156762172T>G	ExAC,TOPMed,gnomAD
rs759962331	p.Met214Thr	missense variant	-	NC_000007.14:g.156762171A>G	ExAC,gnomAD
rs1308864480	p.Thr216Ala	missense variant	-	NC_000007.14:g.156762166T>C	gnomAD
rs1238203816	p.Val217Met	missense variant	-	NC_000007.14:g.156762163C>T	gnomAD
rs905115023	p.Gly219Ser	missense variant	-	NC_000007.14:g.156762157C>T	gnomAD
rs905115023	p.Gly219Arg	missense variant	-	NC_000007.14:g.156762157C>G	gnomAD
rs201194692	p.Gln220Pro	missense variant	-	NC_000007.14:g.156762153T>G	ESP,ExAC,TOPMed,gnomAD
rs747351668	p.Leu222Val	missense variant	-	NC_000007.14:g.156762148G>C	ExAC,gnomAD
rs1321499906	p.Val223Met	missense variant	-	NC_000007.14:g.156762145C>T	gnomAD
rs778762293	p.Val223Ala	missense variant	-	NC_000007.14:g.156762144A>G	ExAC,TOPMed
rs1446887359	p.Thr226Ile	missense variant	-	NC_000007.14:g.156762135G>A	TOPMed
rs6957768	p.Thr226Ala	missense variant	-	NC_000007.14:g.156762136T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1231690861	p.Leu228Ile	missense variant	-	NC_000007.14:g.156756462G>T	TOPMed
rs748908835	p.Leu231Pro	missense variant	-	NC_000007.14:g.156756452A>G	ExAC,gnomAD
rs772415094	p.Leu231Val	missense variant	-	NC_000007.14:g.156756453G>C	ExAC,TOPMed,gnomAD
rs1489308734	p.Ile235Thr	missense variant	-	NC_000007.14:g.156756440A>G	gnomAD
rs373717180	p.Ile237Val	missense variant	-	NC_000007.14:g.156756435T>C	ESP,ExAC,TOPMed,gnomAD
rs1437152815	p.Ile238Met	missense variant	-	NC_000007.14:g.156756430A>C	gnomAD
rs370561017	p.Ile238Phe	missense variant	-	NC_000007.14:g.156756432T>A	ESP,ExAC,TOPMed,gnomAD
rs370561017	p.Ile238Val	missense variant	-	NC_000007.14:g.156756432T>C	ESP,ExAC,TOPMed,gnomAD
rs1311432740	p.Glu241Gln	missense variant	-	NC_000007.14:g.156756423C>G	gnomAD
rs781155753	p.Glu242Lys	missense variant	-	NC_000007.14:g.156756420C>T	ExAC,gnomAD
rs757169155	p.Glu243Asp	missense variant	-	NC_000007.14:g.156756415T>A	ExAC,gnomAD
rs746870245	p.Ala244Thr	missense variant	-	NC_000007.14:g.156756414C>T	ExAC,gnomAD
rs777431087	p.Leu245Phe	missense variant	-	NC_000007.14:g.156756411G>A	ExAC,TOPMed,gnomAD
rs1341823492	p.Arg247Ile	missense variant	-	NC_000007.14:g.156756404C>A	gnomAD
rs752896240	p.Arg248Ter	stop gained	-	NC_000007.14:g.156756402G>A	ExAC,TOPMed,gnomAD
rs1357019505	p.Arg248Gln	missense variant	-	NC_000007.14:g.156756401C>T	gnomAD
rs1374089021	p.Val251Ala	missense variant	-	NC_000007.14:g.156736615A>G	TOPMed,gnomAD
rs966303535	p.Gly252Glu	missense variant	-	NC_000007.14:g.156736612C>T	TOPMed,gnomAD
rs776111350	p.Met253Val	missense variant	-	NC_000007.14:g.156736610T>C	ExAC,gnomAD
rs774941625	p.Leu254Phe	missense variant	-	NC_000007.14:g.156736607G>A	TOPMed,gnomAD
rs1260985869	p.Leu254Pro	missense variant	-	NC_000007.14:g.156736606A>G	gnomAD
rs565300121	p.Cys255Tyr	missense variant	-	NC_000007.14:g.156736603C>T	1000Genomes,TOPMed,gnomAD
rs1461643784	p.Ala256Ser	missense variant	-	NC_000007.14:g.156736601C>A	TOPMed,gnomAD
rs550331323	p.Ala256Val	missense variant	-	NC_000007.14:g.156736600G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1286007573	p.Asn258Tyr	missense variant	-	NC_000007.14:g.156736595T>A	gnomAD
rs1251745785	p.Pro259Leu	missense variant	-	NC_000007.14:g.156736591G>A	TOPMed,gnomAD
rs777728720	p.Val261Ile	missense variant	-	NC_000007.14:g.156736586C>T	ExAC,TOPMed,gnomAD
rs1319388952	p.Thr263Ala	missense variant	-	NC_000007.14:g.156736580T>C	TOPMed,gnomAD
rs531837881	p.Arg265Gly	missense variant	-	NC_000007.14:g.156736574T>C	1000Genomes,TOPMed,gnomAD
rs1400664677	p.Gln266Glu	missense variant	-	NC_000007.14:g.156736571G>C	TOPMed
rs1451469458	p.Gln266Arg	missense variant	-	NC_000007.14:g.156736570T>C	TOPMed
rs1246221276	p.Pro268Ser	missense variant	-	NC_000007.14:g.156736565G>A	TOPMed,gnomAD
rs1307562619	p.Glu269Lys	missense variant	-	NC_000007.14:g.156736562C>T	gnomAD
rs1010869336	p.Gln271Arg	missense variant	-	NC_000007.14:g.156736555T>C	TOPMed,gnomAD
rs1449165373	p.Gln271Ter	stop gained	-	NC_000007.14:g.156736556G>A	TOPMed
rs1397847691	p.Ala272Val	missense variant	-	NC_000007.14:g.156736552G>A	gnomAD
rs1293458682	p.Gly273Val	missense variant	-	NC_000007.14:g.156736549C>A	gnomAD
rs561566992	p.Trp280Ter	stop gained	-	NC_000007.14:g.156736527C>T	1000Genomes,TOPMed,gnomAD
rs1432037500	p.Asp286Gly	missense variant	-	NC_000007.14:g.156736510T>C	gnomAD
rs1176547184	p.Asp286His	missense variant	-	NC_000007.14:g.156736511C>G	gnomAD
rs1420649349	p.Met287Thr	missense variant	-	NC_000007.14:g.156736507A>G	gnomAD
rs1202029932	p.Pro291Ser	missense variant	-	NC_000007.14:g.156736496G>A	TOPMed
rs758171578	p.Arg292Trp	missense variant	-	NC_000007.14:g.156736493G>A	ExAC,TOPMed,gnomAD
rs772036803	p.Arg292Leu	missense variant	-	NC_000007.14:g.156734257C>A	ExAC,gnomAD
rs1308184273	p.Ser295Pro	missense variant	-	NC_000007.14:g.156734249A>G	TOPMed
rs182641358	p.Ser296Leu	missense variant	-	NC_000007.14:g.156734245G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1477239939	p.Glu298Ala	missense variant	-	NC_000007.14:g.156734239T>G	TOPMed,gnomAD
rs756301279	p.Tyr299Cys	missense variant	-	NC_000007.14:g.156734236T>C	ExAC,gnomAD
rs780385456	p.Tyr299Asn	missense variant	-	NC_000007.14:g.156734237A>T	ExAC,TOPMed,gnomAD
rs750492938	p.Asn300Asp	missense variant	-	NC_000007.14:g.156734234T>C	ExAC,gnomAD
rs906392566	p.Ile301Val	missense variant	-	NC_000007.14:g.156734231T>C	TOPMed,gnomAD
rs1199161805	p.Met302Thr	missense variant	-	NC_000007.14:g.156734227A>G	TOPMed,gnomAD
rs757777868	p.Leu304Val	missense variant	-	NC_000007.14:g.156734222A>C	ExAC,gnomAD
rs751941457	p.Glu309Lys	missense variant	-	NC_000007.14:g.156734207C>T	ExAC,gnomAD
rs1316549571	p.Glu309Asp	missense variant	-	NC_000007.14:g.156734205T>G	gnomAD
rs968780146	p.Val311Ile	missense variant	-	NC_000007.14:g.156734201C>T	TOPMed
rs1228173830	p.Thr313Ala	missense variant	-	NC_000007.14:g.156734195T>C	TOPMed,gnomAD
rs1228173830	p.Thr313Ser	missense variant	-	NC_000007.14:g.156734195T>A	TOPMed,gnomAD
rs1450259977	p.Lys317Asn	missense variant	-	NC_000007.14:g.156734181T>G	gnomAD
rs1004974552	p.Lys317Arg	missense variant	-	NC_000007.14:g.156734182T>C	TOPMed
rs886430043	p.Leu318Ser	missense variant	-	NC_000007.14:g.156734179A>G	TOPMed
rs146411054	p.Arg321Gln	missense variant	-	NC_000007.14:g.156728714C>T	ESP,ExAC,gnomAD
rs377662885	p.Arg321Ter	stop gained	-	NC_000007.14:g.156728715G>A	ESP,ExAC,TOPMed,gnomAD
rs1161089398	p.Lys322Ter	stop gained	-	NC_000007.14:g.156728712T>A	gnomAD
rs1446102696	p.Lys322Arg	missense variant	-	NC_000007.14:g.156728711T>C	gnomAD
rs767080458	p.Ala324Ser	missense variant	-	NC_000007.14:g.156728706C>A	ExAC,gnomAD
rs1284958731	p.Ser325Leu	missense variant	-	NC_000007.14:g.156728702G>A	TOPMed
rs761192153	p.Ala326Ser	missense variant	-	NC_000007.14:g.156728700C>A	ExAC,gnomAD
rs542560756	p.Leu331Val	missense variant	-	NC_000007.14:g.156728685A>C	1000Genomes,ExAC,gnomAD
rs143985651	p.Val332Ala	missense variant	-	NC_000007.14:g.156728681A>G	ESP,ExAC,gnomAD
rs374028046	p.Met337Ile	missense variant	-	NC_000007.14:g.156728665C>G	ESP,ExAC,TOPMed,gnomAD
rs1258629499	p.Met337Thr	missense variant	-	NC_000007.14:g.156728666A>G	TOPMed
rs940802815	p.Val338Ile	missense variant	-	NC_000007.14:g.156728664C>T	TOPMed
rs201891297	p.Leu340Ile	missense variant	-	NC_000007.14:g.156728658G>T	1000Genomes
rs577202525	p.Glu343Lys	missense variant	-	NC_000007.14:g.156728649C>T	gnomAD
rs200717387	p.Leu349Phe	missense variant	-	NC_000007.14:g.156727995G>A	ExAC,TOPMed,gnomAD
rs200717387	p.Leu349Val	missense variant	-	NC_000007.14:g.156727995G>C	ExAC,TOPMed,gnomAD
rs1414253516	p.Ala352Ser	missense variant	-	NC_000007.14:g.156727986C>A	gnomAD
rs747160160	p.Asn354Asp	missense variant	-	NC_000007.14:g.156727980T>C	ExAC,gnomAD
rs772082498	p.Cys357Arg	missense variant	-	NC_000007.14:g.156727971A>G	ExAC,gnomAD
rs1034403166	p.Thr363Ile	missense variant	-	NC_000007.14:g.156727952G>A	TOPMed
rs1486980085	p.Ala364Thr	missense variant	-	NC_000007.14:g.156727950C>T	gnomAD
rs779252361	p.Lys367Glu	missense variant	-	NC_000007.14:g.156727941T>C	ExAC,gnomAD
rs769108492	p.Gly368Ala	missense variant	-	NC_000007.14:g.156727937C>G	ExAC,gnomAD
rs1441618198	p.Thr369Arg	missense variant	-	NC_000007.14:g.156727934G>C	gnomAD
rs772174567	p.Gly371Arg	missense variant	-	NC_000007.14:g.156725837C>G	ExAC
rs761853440	p.Pro372Thr	missense variant	-	NC_000007.14:g.156725834G>T	ExAC,TOPMed,gnomAD
rs1227413131	p.Pro372Arg	missense variant	-	NC_000007.14:g.156725833G>C	gnomAD
rs749725838	p.Ile374Val	missense variant	-	NC_000007.14:g.156725828T>C	ExAC,gnomAD
rs1290794070	p.Gly375Glu	missense variant	-	NC_000007.14:g.156725824C>T	TOPMed
rs368074174	p.Asn376Lys	missense variant	-	NC_000007.14:g.156725820A>C	ESP,ExAC,TOPMed,gnomAD
rs1386486568	p.Ser378Cys	missense variant	-	NC_000007.14:g.156725815G>C	TOPMed
rs1463636730	p.Leu379Phe	missense variant	-	NC_000007.14:g.156725813G>A	gnomAD
rs1243498576	p.Thr381Ala	missense variant	-	NC_000007.14:g.156725807T>C	TOPMed
rs1314066185	p.Thr381Met	missense variant	-	NC_000007.14:g.156725806G>A	TOPMed
rs1399908042	p.Ala387Thr	missense variant	-	NC_000007.14:g.156725789C>T	gnomAD
rs970542430	p.Ala388Val	missense variant	-	NC_000007.14:g.156725785G>A	gnomAD
rs758020170	p.Leu389Pro	missense variant	-	NC_000007.14:g.156725782A>G	ExAC,TOPMed,gnomAD
rs1243701564	p.Leu393Trp	missense variant	-	NC_000007.14:g.156725770A>C	TOPMed
rs757422910	p.Tyr396Cys	missense variant	-	NC_000007.14:g.156725523T>C	ExAC,gnomAD
rs1286903647	p.Met398Thr	missense variant	-	NC_000007.14:g.156725517A>G	gnomAD
rs1349171600	p.Met398Leu	missense variant	-	NC_000007.14:g.156725518T>A	gnomAD
rs1420529500	p.Val399Met	missense variant	-	NC_000007.14:g.156725515C>T	TOPMed
rs1364369738	p.Ser401Cys	missense variant	-	NC_000007.14:g.156725508G>C	gnomAD
rs1479193867	p.Val402Ala	missense variant	-	NC_000007.14:g.156725505A>G	gnomAD
rs775900111	p.Gly404Ser	missense variant	-	NC_000007.14:g.156725500C>T	ExAC,TOPMed,gnomAD
rs777140790	p.Phe405Leu	missense variant	-	NC_000007.14:g.156725497A>G	ExAC,gnomAD
rs1486392589	p.Tyr406Cys	missense variant	-	NC_000007.14:g.156725493T>C	TOPMed,gnomAD
rs1207335628	p.Tyr406His	missense variant	-	NC_000007.14:g.156725494A>G	gnomAD
rs200345135	p.Arg409Gln	missense variant	-	NC_000007.14:g.156725484C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200345135	p.Arg409Pro	missense variant	-	NC_000007.14:g.156725484C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1263101718	p.Arg409Ter	stop gained	-	NC_000007.14:g.156725485G>A	gnomAD
rs886062120	p.Phe410Val	missense variant	-	NC_000007.14:g.156725482A>C	gnomAD
rs1324972936	p.Asn413Lys	missense variant	-	NC_000007.14:g.156725471G>C	gnomAD
rs1357184794	p.Pro416Ala	missense variant	-	NC_000007.14:g.156725464G>C	TOPMed
rs747778186	p.Lys417Arg	missense variant	-	NC_000007.14:g.156725460T>C	ExAC,gnomAD
rs774015482	p.Lys418Arg	missense variant	-	NC_000007.14:g.156725457T>C	ExAC,TOPMed,gnomAD
rs1335794635	p.Thr421Ile	missense variant	-	NC_000007.14:g.156725448G>A	gnomAD
rs569074168	p.Thr422Ala	missense variant	-	NC_000007.14:g.156725446T>C	1000Genomes,ExAC,gnomAD
rs748813721	p.Met423Val	missense variant	-	NC_000007.14:g.156725443T>C	ExAC,TOPMed,gnomAD
rs780026772	p.Lys425Asn	missense variant	-	NC_000007.14:g.156725435C>A	ExAC,TOPMed,gnomAD
rs1181683607	p.Ile426Val	missense variant	-	NC_000007.14:g.156724178T>C	gnomAD
rs1275235971	p.Gly428Glu	missense variant	-	NC_000007.14:g.156724171C>T	gnomAD
rs781063724	p.Ser432Phe	missense variant	-	NC_000007.14:g.156724159G>A	ExAC,gnomAD
rs745824343	p.Ser432Thr	missense variant	-	NC_000007.14:g.156724160A>T	ExAC,TOPMed,gnomAD
rs745824343	p.Ser432Pro	missense variant	-	NC_000007.14:g.156724160A>G	ExAC,TOPMed,gnomAD
rs781063724	p.Ser432Tyr	missense variant	-	NC_000007.14:g.156724159G>T	ExAC,gnomAD
rs376693224	p.Ile433Met	missense variant	-	NC_000007.14:g.156724155G>C	ExAC,gnomAD
rs770670942	p.Ile433Val	missense variant	-	NC_000007.14:g.156724157T>C	ExAC,gnomAD
rs777912895	p.Leu434Phe	missense variant	-	NC_000007.14:g.156724152C>G	ExAC,gnomAD
rs758641280	p.Val435Ile	missense variant	-	NC_000007.14:g.156724151C>T	ExAC,gnomAD
rs752911856	p.Ser438Cys	missense variant	-	NC_000007.14:g.156724141G>C	ExAC,gnomAD
rs779158841	p.Ala439Thr	missense variant	-	NC_000007.14:g.156724139C>T	ExAC,gnomAD
rs1364634105	p.Val442Gly	missense variant	-	NC_000007.14:g.156724129A>C	gnomAD
rs371100043	p.Ser444Leu	missense variant	-	NC_000007.14:g.156724123G>A	ESP,gnomAD
rs746844459	p.Ile449Leu	missense variant	-	NC_000007.14:g.156688189T>G	ExAC,gnomAD
rs1410884767	p.Thr450Ser	missense variant	-	NC_000007.14:g.156688185G>C	gnomAD
rs1480177112	p.Asp453Gly	missense variant	-	NC_000007.14:g.156688176T>C	gnomAD
rs1427310353	p.Leu454Pro	missense variant	-	NC_000007.14:g.156688173A>G	gnomAD
rs1354880396	p.Leu455Pro	missense variant	-	NC_000007.14:g.156688170A>G	TOPMed
rs755161471	p.Asp457Asn	missense variant	-	NC_000007.14:g.156688165C>T	ExAC,TOPMed,gnomAD
rs780494539	p.Arg460Thr	missense variant	-	NC_000007.14:g.156688155C>G	ExAC,gnomAD
rs11540622	p.Arg460Ser	missense variant	-	NC_000007.14:g.156688154C>A	ESP,ExAC,TOPMed,gnomAD
rs750834412	p.Asn462Ser	missense variant	-	NC_000007.14:g.156688149T>C	ExAC,gnomAD
rs767943841	p.Trp463Gly	missense variant	-	NC_000007.14:g.156688147A>C	ExAC,TOPMed,gnomAD
rs752383962	p.Tyr468Ser	missense variant	-	NC_000007.14:g.156688131T>G	ExAC,TOPMed,gnomAD
rs752383962	p.Tyr468Cys	missense variant	-	NC_000007.14:g.156688131T>C	ExAC,TOPMed,gnomAD
rs969934431	p.Ile469Val	missense variant	-	NC_000007.14:g.156688129T>C	gnomAD
rs1022907818	p.Val470Ile	missense variant	-	NC_000007.14:g.156688126C>T	TOPMed,gnomAD
rs1022907818	p.Val470Leu	missense variant	-	NC_000007.14:g.156688126C>A	TOPMed,gnomAD
rs764846509	p.Ser472Phe	missense variant	-	NC_000007.14:g.156688119G>A	ExAC,TOPMed,gnomAD
rs145270950	p.Asn474Ser	missense variant	-	NC_000007.14:g.156688113T>C	ESP,ExAC,gnomAD
rs1404472932	p.Leu475Ser	missense variant	-	NC_000007.14:g.156688110A>G	gnomAD
rs377036782	p.Leu475Phe	missense variant	-	NC_000007.14:g.156688109C>A	ESP,ExAC,TOPMed,gnomAD
rs1357442970	p.Leu476Phe	missense variant	-	NC_000007.14:g.156688108G>A	gnomAD
rs1433841037	p.Ile479Val	missense variant	-	NC_000007.14:g.156688099T>C	gnomAD
rs765738640	p.Thr482Ile	missense variant	-	NC_000007.14:g.156688089G>A	ExAC,gnomAD
rs1184978850	p.Leu483Trp	missense variant	-	NC_000007.14:g.156688086A>C	gnomAD
rs1476486178	p.Cys484Gly	missense variant	-	NC_000007.14:g.156688084A>C	gnomAD
rs1249696156	p.Val486Phe	missense variant	-	NC_000007.14:g.156688078C>A	gnomAD
rs1004969335	p.Arg487Ter	stop gained	-	NC_000007.14:g.156688075G>A	gnomAD
rs1460825955	p.Arg487Gln	missense variant	-	NC_000007.14:g.156688074C>T	TOPMed,gnomAD
rs1261163203	p.Phe489Leu	missense variant	-	NC_000007.14:g.156688069A>G	gnomAD
rs760685039	p.Ala492Val	missense variant	-	NC_000007.14:g.156688059G>A	ExAC,gnomAD
rs772985105	p.Val493Phe	missense variant	-	NC_000007.14:g.156688057C>A	ExAC,gnomAD
rs772033218	p.Leu497Ile	missense variant	-	NC_000007.14:g.156688045G>T	ExAC,gnomAD
rs747934626	p.Phe498Cys	missense variant	-	NC_000007.14:g.156688041A>C	ExAC,gnomAD
rs1169651902	p.Lys499Glu	missense variant	-	NC_000007.14:g.156688039T>C	TOPMed
rs1363580624	p.Lys499Arg	missense variant	-	NC_000007.14:g.156688038T>C	gnomAD
rs1444445309	p.Leu503Phe	missense variant	-	NC_000007.14:g.156684161G>A	gnomAD
rs773251383	p.His504Arg	missense variant	-	NC_000007.14:g.156684157T>C	ExAC,TOPMed,gnomAD
rs140722848	p.Leu506Val	missense variant	-	NC_000007.14:g.156684152G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140722848	p.Leu506Phe	missense variant	-	NC_000007.14:g.156684152G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1423820835	p.His507Pro	missense variant	-	NC_000007.14:g.156684148T>G	gnomAD
rs1166595321	p.Leu508Ter	stop gained	-	NC_000007.14:g.156684145A>T	gnomAD
rs369873566	p.Pro509Ser	missense variant	-	NC_000007.14:g.156684143G>A	ESP,ExAC,TOPMed,gnomAD
rs759960113	p.Asn510Asp	missense variant	-	NC_000007.14:g.156684140T>C	ExAC,TOPMed,gnomAD
rs1175045460	p.Asn510Ser	missense variant	-	NC_000007.14:g.156684139T>C	gnomAD
rs759960113	p.Asn510His	missense variant	-	NC_000007.14:g.156684140T>G	ExAC,TOPMed,gnomAD
rs867219160	p.Thr511Ile	missense variant	-	NC_000007.14:g.156684136G>A	TOPMed
rs749544877	p.Ser515Leu	missense variant	-	NC_000007.14:g.156684124G>A	ExAC,gnomAD
rs1451945196	p.Thr517Arg	missense variant	-	NC_000007.14:g.156684118G>C	TOPMed
rs775532053	p.Ala518Pro	missense variant	-	NC_000007.14:g.156684116C>G	ExAC,gnomAD
rs1489697960	p.Pro520Ser	missense variant	-	NC_000007.14:g.156684110G>A	gnomAD
rs1316902866	p.Gln526Arg	missense variant	-	NC_000007.14:g.156684091T>C	gnomAD
rs1302395381	p.Ala528Ser	missense variant	-	NC_000007.14:g.156684086C>A	TOPMed
rs1305487209	p.Leu529Arg	missense variant	-	NC_000007.14:g.156684082A>C	TOPMed,gnomAD
rs1305487209	p.Leu529Pro	missense variant	-	NC_000007.14:g.156684082A>G	TOPMed,gnomAD

Keyword ID	Keyword Term
KW-0175	Coiled coil
KW-0472	Membrane
KW-1267	Proteomics identification
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

InterPro ID	InterPro Term
IPR008075	LIMR
IPR006876	LMBR1-like_membr_prot

Gene: LMBR1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction