CleftGeneDB-Search

Gene: LOXL3

Basic information

Tag	Content
Uniprot ID	P58215; D6W5J1; Q2EHP2; Q6IPL7; Q96RS1;
Entrez ID	84695
Genbank protein ID	AAK51671.1; EAW99615.1; ABD23013.1; AAK63205.1; EAW99616.1; AAK91134.1; AAH71865.1;
Genbank nucleotide ID	NM_032603.4; XM_011533134.2; XM_017005112.1; NM_001289164.2; NM_001289165.1;
Ensembl protein ID	ENSP00000377512; ENSP00000264094;
Ensembl nucleotide ID	ENSG00000115318
Gene name	Lysyl oxidase homolog 3
Gene symbol	LOXL3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins (PubMed:17018530, PubMed:28065600). Catalyzes the post-translational oxidative deamination of peptidyl lysine residues in precursors of elastin and different types of collagens, a prerequisite in the formation of cross-links between collagens and elastin (PubMed:17018530). Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (By similarity). Acts as a regulator of inflammatory response by inhibiting differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): acts by interacting with STAT3 in the nucleus and catalyzing both deacetylation and oxidation of lysine residues on STAT3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600). Also able to catalyze deacetylation of lysine residues on STAT3 (PubMed:28065600).
Sequence	MRPVSVWQWS PWGLLLCLLC SSCLGSPSPS TGPEKKAGSQ GLRFRLAGFP RKPYEGRVEI 60 QRAGEWGTIC DDDFTLQAAH ILCRELGFTE ATGWTHSAKY GPGTGRIWLD NLSCSGTEQS 120 VTECASRGWG NSDCTHDEDA GVICKDQRLP GFSDSNVIEV EHHLQVEEVR IRPAVGWGRR 180 PLPVTEGLVE VRLPDGWSQV CDKGWSAHNS HVVCGMLGFP SEKRVNAAFY RLLAQRQQHS 240 FGLHGVACVG TEAHLSLCSL EFYRANDTAR CPGGGPAVVS CVPGPVYAAS SGQKKQQQSK 300 PQGEARVRLK GGAHPGEGRV EVLKASTWGT VCDRKWDLHA ASVVCRELGF GSAREALSGA 360 RMGQGMGAIH LSEVRCSGQE LSLWKCPHKN ITAEDCSHSQ DAGVRCNLPY TGAETRIRLS 420 GGRSQHEGRV EVQIGGPGPL RWGLICGDDW GTLEAMVACR QLGLGYANHG LQETWYWDSG 480 NITEVVMSGV RCTGTELSLD QCAHHGTHIT CKRTGTRFTA GVICSETASD LLLHSALVQE 540 TAYIEDRPLH MLYCAAEENC LASSARSANW PYGHRRLLRF SSQIHNLGRA DFRPKAGRHS 600 WVWHECHGHY HSMDIFTHYD ILTPNGTKVA EGHKASFCLE DTECQEDVSK RYECANFGEQ 660 GITVGCWDLY RHDIDCQWID ITDVKPGNYI LQVVINPNFE VAESDFTNNA MKCNCKYDGH 720 RIWVHNCHIG DAFSEEANRR FERYPGQTSN QII 753

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	LOXL3	613599	E1BFC8			Bos taurus	Prediction	More>>
1:1 ortholog	LOXL3	483101	E2QYZ4			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	LOXL3	102170055	A0A452FS61			Capra hircus	Prediction	More>>
1:1 ortholog	LOXL3	84695	P58215			Homo sapiens	Prediction	More>>
1:1 ortholog	Loxl3	16950	Q9Z175	CPO	E12.5, E13.5, E14.5, E15.5, E16.5	Mus musculus	Publication	More>>
1:1 ortholog	LOXL3	459340	A0A2I3SAT0			Pan troglodytes	Prediction	More>>
1:1 ortholog	LOXL3		F1SNV7			Sus scrofa	Prediction	More>>
1:1 ortholog	LOXL3		G1U7Y3			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Loxl3	312478	D3ZP82			Rattus norvegicus	Prediction	More>>
1:1 ortholog	loxl3b	336266	B8A4W9			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs370437226	p.Arg2Ter	stop gained	-	NC_000002.12:g.74552631G>A	ESP,ExAC,TOPMed,gnomAD
rs748632204	p.Arg2Gln	missense variant	-	NC_000002.12:g.74552630C>T	ExAC,TOPMed,gnomAD
rs753385364	p.Val6Ala	missense variant	-	NC_000002.12:g.74552618A>G	ExAC,gnomAD
rs1184764688	p.Trp7Arg	missense variant	-	NC_000002.12:g.74552616A>G	gnomAD
rs1251364945	p.Gln8Arg	missense variant	-	NC_000002.12:g.74552612T>C	gnomAD
rs1473080063	p.Gln8Lys	missense variant	-	NC_000002.12:g.74552613G>T	gnomAD
rs1453420346	p.Ser10Asn	missense variant	-	NC_000002.12:g.74552606C>T	TOPMed,gnomAD
rs1210397222	p.Pro11His	missense variant	-	NC_000002.12:g.74552603G>T	gnomAD
rs761181300	p.Pro11Ser	missense variant	-	NC_000002.12:g.74552604G>A	ExAC,gnomAD
rs761181300	p.Pro11Thr	missense variant	-	NC_000002.12:g.74552604G>T	ExAC,gnomAD
rs1271103629	p.Trp12Ser	missense variant	-	NC_000002.12:g.74552600C>G	gnomAD
rs767899612	p.Gly13Val	missense variant	-	NC_000002.12:g.74552597C>A	ExAC,gnomAD
rs367916769	p.Gly13Arg	missense variant	-	NC_000002.12:g.74552598C>T	ESP,ExAC,gnomAD
rs374069539	p.Leu14Met	missense variant	-	NC_000002.12:g.74552595G>T	ESP,ExAC,TOPMed
rs1392912954	p.Ser21Ile	missense variant	-	NC_000002.12:g.74552573C>A	gnomAD
rs1161916684	p.Ser22Leu	missense variant	-	NC_000002.12:g.74552570G>A	gnomAD
rs917981983	p.Leu24Met	missense variant	-	NC_000002.12:g.74552565A>T	TOPMed,gnomAD
rs146972503	p.Pro27Ala	missense variant	-	NC_000002.12:g.74552556G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773238218	p.Pro27Leu	missense variant	-	NC_000002.12:g.74552555G>A	ExAC,gnomAD
RCV000244293	p.Pro27Ala	missense variant	-	NC_000002.12:g.74552556G>C	ClinVar
rs747921472	p.Ser28Cys	missense variant	-	NC_000002.12:g.74552552G>C	ExAC,gnomAD
rs1028685948	p.Pro29His	missense variant	-	NC_000002.12:g.74552549G>T	TOPMed
rs1413086034	p.Thr31Ala	missense variant	-	NC_000002.12:g.74552544T>C	TOPMed
rs754646119	p.Thr31Lys	missense variant	-	NC_000002.12:g.74552543G>T	ExAC,TOPMed,gnomAD
rs1413086034	p.Thr31Pro	missense variant	-	NC_000002.12:g.74552544T>G	TOPMed
rs754646119	p.Thr31Met	missense variant	-	NC_000002.12:g.74552543G>A	ExAC,TOPMed,gnomAD
rs748837090	p.Gly32Ser	missense variant	-	NC_000002.12:g.74552541C>T	ExAC,gnomAD
rs1221755751	p.Pro33Leu	missense variant	-	NC_000002.12:g.74552537G>A	gnomAD
rs779618483	p.Pro33Ser	missense variant	-	NC_000002.12:g.74552538G>A	ExAC,gnomAD
rs755580751	p.Glu34Lys	missense variant	-	NC_000002.12:g.74552535C>T	ExAC,gnomAD
rs1247284618	p.Ala37Pro	missense variant	-	NC_000002.12:g.74552526C>G	TOPMed
rs767989657	p.Gly38Arg	missense variant	-	NC_000002.12:g.74552523C>T	ExAC,TOPMed,gnomAD
rs767989657	p.Gly38Trp	missense variant	-	NC_000002.12:g.74552523C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln40Glu	missense variant	-	NC_000002.12:g.74552517G>C	NCI-TCGA
rs751944822	p.Gly41Arg	missense variant	-	NC_000002.12:g.74552514C>T	ExAC,gnomAD
rs765433257	p.Arg43Gln	missense variant	-	NC_000002.12:g.74552507C>T	ExAC,TOPMed,gnomAD
rs755080038	p.Arg43Trp	missense variant	-	NC_000002.12:g.74552508G>A	ExAC,TOPMed,gnomAD
rs202057346	p.Arg45Gln	missense variant	-	NC_000002.12:g.74552501C>T	ExAC,TOPMed,gnomAD
rs1429584079	p.Arg45Trp	missense variant	-	NC_000002.12:g.74552502G>A	TOPMed
rs1433412630	p.Lys52Glu	missense variant	-	NC_000002.12:g.74552481T>C	TOPMed
COSM3583415	p.Lys52Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74552480T>A	NCI-TCGA Cosmic
rs954633340	p.Lys52Arg	missense variant	-	NC_000002.12:g.74552480T>C	TOPMed,gnomAD
rs1241356218	p.Pro53Leu	missense variant	-	NC_000002.12:g.74552477G>A	gnomAD
rs773322576	p.Tyr54His	missense variant	-	NC_000002.12:g.74552475A>G	ExAC,TOPMed
rs1213377664	p.Tyr54Cys	missense variant	-	NC_000002.12:g.74552474T>C	TOPMed,gnomAD
rs1364714746	p.Glu55Asp	missense variant	-	NC_000002.12:g.74552470C>G	TOPMed
rs1278906628	p.Glu55Lys	missense variant	-	NC_000002.12:g.74552472C>T	gnomAD
rs748016046	p.Glu55Ala	missense variant	-	NC_000002.12:g.74552471T>G	ExAC,gnomAD
rs373368024	p.Arg57Gly	missense variant	-	NC_000002.12:g.74552466G>C	ESP,ExAC,TOPMed,gnomAD
rs779522901	p.Arg57His	missense variant	-	NC_000002.12:g.74552465C>T	ExAC,TOPMed,gnomAD
rs373368024	p.Arg57Cys	missense variant	-	NC_000002.12:g.74552466G>A	ESP,ExAC,TOPMed,gnomAD
rs779522901	p.Arg57Leu	missense variant	-	NC_000002.12:g.74552465C>A	ExAC,TOPMed,gnomAD
rs371316114	p.Val58Met	missense variant	-	NC_000002.12:g.74552463C>T	ESP,ExAC,TOPMed,gnomAD
rs745346730	p.Glu59Lys	missense variant	-	NC_000002.12:g.74552460C>T	ExAC,TOPMed,gnomAD
rs745346730	p.Glu59Ter	stop gained	-	NC_000002.12:g.74552460C>A	ExAC,TOPMed,gnomAD
rs543052981	p.Arg62Gln	missense variant	-	NC_000002.12:g.74552450C>T	gnomAD
rs150838046	p.Arg62Ter	stop gained	-	NC_000002.12:g.74552451G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs543052981	p.Arg62Pro	missense variant	-	NC_000002.12:g.74552450C>G	gnomAD
rs1260692288	p.Ala63Ser	missense variant	-	NC_000002.12:g.74552448C>A	TOPMed
rs751949995	p.Glu65Val	missense variant	-	NC_000002.12:g.74552441T>A	ExAC,TOPMed,gnomAD
rs751949995	p.Glu65Ala	missense variant	-	NC_000002.12:g.74552441T>G	ExAC,TOPMed,gnomAD
rs905074850	p.Gly67Val	missense variant	-	NC_000002.12:g.74552435C>A	TOPMed
rs905074850	p.Gly67Asp	missense variant	-	NC_000002.12:g.74552435C>T	TOPMed
rs1045315730	p.Thr68Ile	missense variant	-	NC_000002.12:g.74552432G>A	TOPMed
NCI-TCGA novel	p.Ile69Thr	missense variant	-	NC_000002.12:g.74552429A>G	NCI-TCGA
COSM1023065	p.Cys70Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74552427A>C	NCI-TCGA Cosmic
rs143357774	p.Asp71Asn	missense variant	-	NC_000002.12:g.74552424C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp72Glu	missense variant	-	NC_000002.12:g.74552419A>T	NCI-TCGA
rs374759905	p.Thr75Met	missense variant	-	NC_000002.12:g.74552411G>A	ESP,ExAC,TOPMed,gnomAD
rs1387914909	p.Leu76Val	missense variant	-	NC_000002.12:g.74552409G>C	TOPMed
rs1184647546	p.Ala78Val	missense variant	-	NC_000002.12:g.74552402G>A	gnomAD
rs1436116054	p.Ala79Thr	missense variant	-	NC_000002.12:g.74552400C>T	TOPMed
rs759757754	p.His80Tyr	missense variant	-	NC_000002.12:g.74552397G>A	ExAC,gnomAD
rs1237794034	p.Leu82Phe	missense variant	-	NC_000002.12:g.74552391G>A	gnomAD
rs370340732	p.Arg84Gly	missense variant	-	NC_000002.12:g.74552385G>C	ESP,ExAC,TOPMed,gnomAD
rs372708796	p.Arg84Gln	missense variant	-	NC_000002.12:g.74552384C>T	1000Genomes,ExAC,gnomAD
rs370340732	p.Arg84Trp	missense variant	-	NC_000002.12:g.74552385G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu90Asp	missense variant	-	NC_000002.12:g.74552365C>A	NCI-TCGA
rs774114007	p.Glu90Asp	missense variant	-	NC_000002.12:g.74552365C>G	ExAC,gnomAD
rs1271526877	p.Glu90Gln	missense variant	-	NC_000002.12:g.74552367C>G	gnomAD
NCI-TCGA novel	p.Ala91Val	missense variant	-	NC_000002.12:g.74552363G>A	NCI-TCGA
rs762632876	p.Gly93Ala	missense variant	-	NC_000002.12:g.74552357C>G	ExAC,TOPMed,gnomAD
rs762632876	p.Gly93Asp	missense variant	-	NC_000002.12:g.74552357C>T	ExAC,TOPMed,gnomAD
rs775248732	p.Ala98Thr	missense variant	-	NC_000002.12:g.74552343C>T	ExAC,gnomAD
rs1352551175	p.Pro102Leu	missense variant	-	NC_000002.12:g.74552330G>A	gnomAD
rs1352551175	p.Pro102Arg	missense variant	-	NC_000002.12:g.74552330G>C	gnomAD
rs917726288	p.Thr104Arg	missense variant	-	NC_000002.12:g.74552324G>C	TOPMed,gnomAD
rs73949682	p.Arg106His	missense variant	-	NC_000002.12:g.74550345C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770526303	p.Arg106Cys	missense variant	-	NC_000002.12:g.74550346G>A	ExAC,gnomAD
rs73949682	p.Arg106Leu	missense variant	-	NC_000002.12:g.74550345C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1381675584	p.Asn111Ser	missense variant	-	NC_000002.12:g.74550330T>C	gnomAD
rs1195873134	p.Ser115Arg	missense variant	-	NC_000002.12:g.74550317A>C	TOPMed
rs748631958	p.Glu118Lys	missense variant	-	NC_000002.12:g.74550310C>T	ExAC,TOPMed,gnomAD
rs755357456	p.Ser120Asn	missense variant	-	NC_000002.12:g.74550303C>T	ExAC,gnomAD
rs754132327	p.Thr122Ala	missense variant	-	NC_000002.12:g.74550298T>C	ExAC,gnomAD
rs1186343174	p.Ser126Ala	missense variant	-	NC_000002.12:g.74550286A>C	TOPMed
rs1015611082	p.Arg127Gln	missense variant	-	NC_000002.12:g.74550282C>T	TOPMed,gnomAD
rs1219893637	p.Arg127Trp	missense variant	-	NC_000002.12:g.74550283G>A	gnomAD
rs1438579657	p.Gly128Asp	missense variant	-	NC_000002.12:g.74550279C>T	gnomAD
rs750461615	p.Trp129Ter	stop gained	-	NC_000002.12:g.74550276C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly130Glu	missense variant	-	NC_000002.12:g.74550273C>T	NCI-TCGA
rs376265928	p.Ser132Gly	missense variant	-	NC_000002.12:g.74550268T>C	ESP,ExAC,TOPMed,gnomAD
rs1461859213	p.Cys134Arg	missense variant	-	NC_000002.12:g.74550262A>G	TOPMed
rs762811068	p.Thr135Met	missense variant	-	NC_000002.12:g.74550258G>A	ExAC,TOPMed,gnomAD
rs762811068	p.Thr135Arg	missense variant	-	NC_000002.12:g.74550258G>C	ExAC,TOPMed,gnomAD
rs762811068	p.Thr135Lys	missense variant	-	NC_000002.12:g.74550258G>T	ExAC,TOPMed,gnomAD
rs759306602	p.Asp137Asn	missense variant	-	NC_000002.12:g.74550253C>T	ExAC,TOPMed,gnomAD
rs759306602	p.Asp137His	missense variant	-	NC_000002.12:g.74550253C>G	ExAC,TOPMed,gnomAD
rs765944400	p.Glu138Lys	missense variant	-	NC_000002.12:g.74550250C>T	ExAC,gnomAD
rs1247886962	p.Val142Phe	missense variant	-	NC_000002.12:g.74550238C>A	TOPMed
rs760294558	p.Asp146Asn	missense variant	-	NC_000002.12:g.74550226C>T	ExAC,TOPMed,gnomAD
rs772615508	p.Gln147Ter	stop gained	-	NC_000002.12:g.74550223G>A	ExAC,TOPMed,gnomAD
rs772615508	p.Gln147Glu	missense variant	-	NC_000002.12:g.74550223G>C	ExAC,TOPMed,gnomAD
rs772615508	p.Gln147Lys	missense variant	-	NC_000002.12:g.74550223G>T	ExAC,TOPMed,gnomAD
rs575389607	p.Arg148His	missense variant	-	NC_000002.12:g.74550219C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs373321712	p.Arg148Ser	missense variant	-	NC_000002.12:g.74550220G>T	ESP,ExAC,TOPMed,gnomAD
rs373321712	p.Arg148Cys	missense variant	-	NC_000002.12:g.74550220G>A	ESP,ExAC,TOPMed,gnomAD
rs1211028948	p.Pro150Thr	missense variant	-	NC_000002.12:g.74550214G>T	gnomAD
rs769189437	p.Gly151Asp	missense variant	-	NC_000002.12:g.74550210C>T	ExAC,gnomAD
rs749635165	p.Ser153Leu	missense variant	-	NC_000002.12:g.74550204G>A	ExAC,gnomAD
rs756276203	p.Asn156Ser	missense variant	-	NC_000002.12:g.74550195T>C	ExAC,TOPMed,gnomAD
rs1296117039	p.Val157Ile	missense variant	-	NC_000002.12:g.74550193C>T	gnomAD
rs1163168814	p.Ile158Val	missense variant	-	NC_000002.12:g.74550190T>C	gnomAD
rs1381447228	p.Glu159Gly	missense variant	-	NC_000002.12:g.74550186T>C	gnomAD
rs559018104	p.Val160Leu	missense variant	-	NC_000002.12:g.74549583C>G	1000Genomes,ExAC,gnomAD
rs755891381	p.Glu161Lys	missense variant	-	NC_000002.12:g.74549580C>T	ExAC,TOPMed,gnomAD
rs1249867066	p.His162Arg	missense variant	-	NC_000002.12:g.74549576T>C	gnomAD
rs1195206226	p.Leu164Pro	missense variant	-	NC_000002.12:g.74549570A>G	gnomAD
rs1337348227	p.Gln165Arg	missense variant	-	NC_000002.12:g.74549567T>C	gnomAD
rs540709903	p.Val166Met	missense variant	-	NC_000002.12:g.74549565C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs934234883	p.Glu167Asp	missense variant	-	NC_000002.12:g.74549560C>G	TOPMed,gnomAD
rs375565645	p.Arg172Gln	missense variant	-	NC_000002.12:g.74549546C>T	ESP,ExAC,TOPMed,gnomAD
rs751096939	p.Arg172Ter	stop gained	-	NC_000002.12:g.74549547G>A	ExAC,gnomAD
rs776024001	p.Val175Ile	missense variant	-	NC_000002.12:g.74549538C>T	ExAC,TOPMed,gnomAD
rs199751441	p.Gly176Val	missense variant	-	NC_000002.12:g.74549534C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199751441	p.Gly176Glu	missense variant	-	NC_000002.12:g.74549534C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776786029	p.Trp177Ter	stop gained	-	NC_000002.12:g.74549531C>T	ExAC,gnomAD
rs926024104	p.Gly178Asp	missense variant	-	NC_000002.12:g.74549528C>T	gnomAD
rs1470620333	p.Arg179Lys	missense variant	-	NC_000002.12:g.74549525C>T	TOPMed,gnomAD
rs1470620333	p.Arg179Ile	missense variant	-	NC_000002.12:g.74549525C>A	TOPMed,gnomAD
rs1161694184	p.Arg179Gly	missense variant	-	NC_000002.12:g.74549526T>C	TOPMed,gnomAD
rs771130039	p.Arg180Gln	missense variant	-	NC_000002.12:g.74549522C>T	ExAC,gnomAD
rs150977936	p.Pro181Leu	missense variant	-	NC_000002.12:g.74549519G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1024273215	p.Pro183Thr	missense variant	-	NC_000002.12:g.74549514G>T	TOPMed,gnomAD
rs1467895088	p.Thr185Met	missense variant	-	NC_000002.12:g.74549507G>A	gnomAD
rs749209218	p.Leu188Pro	missense variant	-	NC_000002.12:g.74549498A>G	ExAC,gnomAD
rs1285411015	p.Val189Leu	missense variant	-	NC_000002.12:g.74549496C>G	TOPMed
rs1367577170	p.Val189Glu	missense variant	-	NC_000002.12:g.74549495A>T	gnomAD
NCI-TCGA novel	p.Val191Ala	missense variant	-	NC_000002.12:g.74549489A>G	NCI-TCGA
rs1348354520	p.Val191Ile	missense variant	-	NC_000002.12:g.74549490C>T	TOPMed
rs201296491	p.Gly196Ser	missense variant	-	NC_000002.12:g.74549475C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201296491	p.Gly196Arg	missense variant	-	NC_000002.12:g.74549475C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201296491	p.Gly196Cys	missense variant	-	NC_000002.12:g.74549475C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750226039	p.Trp197Ter	stop gained	-	NC_000002.12:g.74549471C>T	ExAC,gnomAD
rs1236265183	p.Ser198Leu	missense variant	-	NC_000002.12:g.74549468G>A	gnomAD
NCI-TCGA novel	p.Ser198Trp	missense variant	-	NC_000002.12:g.74549468G>C	NCI-TCGA
rs899044321	p.Cys201Ter	stop gained	-	NC_000002.12:g.74549458G>T	gnomAD
rs756979973	p.Gly204Ser	missense variant	-	NC_000002.12:g.74549451C>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp205Cys	missense variant	-	NC_000002.12:g.74549446C>G	NCI-TCGA
rs751190820	p.Trp205Ter	stop gained	-	NC_000002.12:g.74549447C>T	ExAC,gnomAD
rs1007223061	p.His208Gln	missense variant	-	NC_000002.12:g.74549437G>C	gnomAD
rs763728218	p.His208Pro	missense variant	-	NC_000002.12:g.74549438T>G	ExAC
rs762502885	p.Val212Met	missense variant	-	NC_000002.12:g.74549427C>T	ExAC,gnomAD
rs1384532589	p.Gly215Arg	missense variant	-	NC_000002.12:g.74549418C>T	gnomAD
NCI-TCGA novel	p.Leu217Met	missense variant	-	NC_000002.12:g.74549412G>T	NCI-TCGA
rs753192396	p.Leu217Val	missense variant	-	NC_000002.12:g.74549412G>C	ExAC,gnomAD
rs1479059838	p.Gly218Asp	missense variant	-	NC_000002.12:g.74549408C>T	gnomAD
rs765772693	p.Pro220Ser	missense variant	-	NC_000002.12:g.74549403G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu222Ala	missense variant	-	NC_000002.12:g.74549396T>G	NCI-TCGA
rs759876701	p.Glu222Lys	missense variant	-	NC_000002.12:g.74549397C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys223Gln	missense variant	-	NC_000002.12:g.74549394T>G	NCI-TCGA
rs886995147	p.Arg224Gly	missense variant	-	NC_000002.12:g.74549391T>C	TOPMed
rs1447301456	p.Asn226Asp	missense variant	-	NC_000002.12:g.74549385T>C	gnomAD
rs143485735	p.Asn226Ser	missense variant	-	NC_000002.12:g.74549384T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760921521	p.Ala227Val	missense variant	-	NC_000002.12:g.74549381G>A	ExAC,TOPMed,gnomAD
rs771222328	p.Ala227Ser	missense variant	-	NC_000002.12:g.74549382C>A	ExAC,TOPMed,gnomAD
rs771222328	p.Ala227Thr	missense variant	-	NC_000002.12:g.74549382C>T	ExAC,TOPMed,gnomAD
rs1234268782	p.Tyr230Cys	missense variant	-	NC_000002.12:g.74549372T>C	gnomAD
rs373973191	p.Arg231Trp	missense variant	-	NC_000002.12:g.74549370T>A	ESP,ExAC,TOPMed,gnomAD
rs745848046	p.Leu233Val	missense variant	-	NC_000002.12:g.74536924G>C	ExAC,TOPMed,gnomAD
rs746767459	p.Arg236Gln	missense variant	-	NC_000002.12:g.74536914C>T	ExAC,TOPMed,gnomAD
rs200536773	p.Arg236Trp	missense variant	-	NC_000002.12:g.74536915G>A	ExAC,TOPMed,gnomAD
rs1165931416	p.His239Tyr	missense variant	-	NC_000002.12:g.74536906G>A	gnomAD
rs1476025076	p.Ser240Cys	missense variant	-	NC_000002.12:g.74536902G>C	gnomAD
rs1257799499	p.His244Arg	missense variant	-	NC_000002.12:g.74536890T>C	gnomAD
rs199982409	p.His244Gln	missense variant	-	NC_000002.12:g.74536889A>T	ExAC,TOPMed,gnomAD
rs1171453817	p.Val246Met	missense variant	-	NC_000002.12:g.74536885C>T	TOPMed
rs778516841	p.Val249Met	missense variant	-	NC_000002.12:g.74536876C>T	ExAC,TOPMed,gnomAD
rs754394481	p.Gly250Val	missense variant	-	NC_000002.12:g.74536872C>A	ExAC,gnomAD
rs375983669	p.Thr251Met	missense variant	-	NC_000002.12:g.74536869G>A	ESP,ExAC,TOPMed,gnomAD
rs1375675422	p.Ala253Val	missense variant	-	NC_000002.12:g.74536863G>A	gnomAD
rs1298802352	p.His254Asp	missense variant	-	NC_000002.12:g.74536861G>C	TOPMed,gnomAD
rs1298802352	p.His254Tyr	missense variant	-	NC_000002.12:g.74536861G>A	TOPMed,gnomAD
rs750770185	p.Leu255Val	missense variant	-	NC_000002.12:g.74536858G>C	ExAC,gnomAD
rs750770185	p.Leu255Phe	missense variant	-	NC_000002.12:g.74536858G>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys258Ter	stop gained	-	NC_000002.12:g.74536847A>T	NCI-TCGA
COSM282463	p.Ser259Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536846A>G	NCI-TCGA Cosmic
rs767712589	p.Leu260Arg	missense variant	-	NC_000002.12:g.74536842A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu260Pro	missense variant	-	NC_000002.12:g.74536842A>G	NCI-TCGA
rs371775212	p.Tyr263Cys	missense variant	-	NC_000002.12:g.74536833T>C	ESP,ExAC,TOPMed,gnomAD
rs370157678	p.Arg264His	missense variant	-	NC_000002.12:g.74536830C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774395905	p.Arg264Cys	missense variant	-	NC_000002.12:g.74536831G>A	ExAC,TOPMed,gnomAD
rs139468475	p.Asn266Ser	missense variant	-	NC_000002.12:g.74536824T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp267Val	missense variant	-	NC_000002.12:g.74536821T>A	NCI-TCGA
rs1177269714	p.Ala269Gly	missense variant	-	NC_000002.12:g.74536815G>C	gnomAD
rs770980565	p.Ala269Thr	missense variant	-	NC_000002.12:g.74536816C>T	ExAC,TOPMed,gnomAD
rs746887803	p.Arg270Ser	missense variant	-	NC_000002.12:g.74536811C>A	ExAC,gnomAD
rs1216048852	p.Pro272Arg	missense variant	-	NC_000002.12:g.74536806G>C	gnomAD
rs368213503	p.Gly273Val	missense variant	-	NC_000002.12:g.74536803C>A	ESP,TOPMed,gnomAD
rs1192497341	p.Gly273Trp	missense variant	-	NC_000002.12:g.74536804C>A	TOPMed
rs1212115196	p.Gly274Arg	missense variant	-	NC_000002.12:g.74536801C>T	gnomAD
COSM3910674	p.Gly274Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536800C>T	NCI-TCGA Cosmic
rs778411968	p.Gly275Cys	missense variant	-	NC_000002.12:g.74536798C>A	ExAC,TOPMed,gnomAD
rs1223302011	p.Gly275Ala	missense variant	-	NC_000002.12:g.74536797C>G	gnomAD
rs746133895	p.Gly275AlaPheSerTerUnk	frameshift	-	NC_000002.12:g.74536797C>-	NCI-TCGA,NCI-TCGA Cosmic
rs778411968	p.Gly275Arg	missense variant	-	NC_000002.12:g.74536798C>G	ExAC,TOPMed,gnomAD
COSM1023063	p.Pro276LeuPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.74536794G>-	NCI-TCGA Cosmic
rs573740131	p.Val278Ala	missense variant	-	NC_000002.12:g.74536788A>G	1000Genomes,ExAC,gnomAD
rs756624083	p.Val279Gly	missense variant	-	NC_000002.12:g.74536785A>C	ExAC,gnomAD
rs780593318	p.Val279Met	missense variant	-	NC_000002.12:g.74536786C>T	ExAC,gnomAD
rs1324959069	p.Ser280Ile	missense variant	-	NC_000002.12:g.74536782C>A	gnomAD
COSM3910673	p.Ser280Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536783T>C	NCI-TCGA Cosmic
rs1175338195	p.Cys281Ser	missense variant	-	NC_000002.12:g.74536779C>G	TOPMed
rs750858016	p.Gly284Asp	missense variant	-	NC_000002.12:g.74536770C>T	ExAC,gnomAD
rs750858016	p.Gly284Val	missense variant	-	NC_000002.12:g.74536770C>A	ExAC,gnomAD
rs757513331	p.Tyr287Cys	missense variant	-	NC_000002.12:g.74536761T>C	ExAC,gnomAD
rs186579568	p.Ala288Val	missense variant	-	NC_000002.12:g.74536758G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764189744	p.Ala288Thr	missense variant	-	NC_000002.12:g.74536759C>T	ExAC,gnomAD
rs1487018529	p.Gly292Asp	missense variant	-	NC_000002.12:g.74536746C>T	gnomAD
rs377049786	p.Lys295Gln	missense variant	-	NC_000002.12:g.74536738T>G	ESP,ExAC,TOPMed,gnomAD
rs377049786	p.Lys295Glu	missense variant	-	NC_000002.12:g.74536738T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln297Glu	missense variant	-	NC_000002.12:g.74536732G>C	NCI-TCGA
rs966618502	p.Gln298Pro	missense variant	-	NC_000002.12:g.74536728T>G	TOPMed,gnomAD
rs1371636666	p.Gln298Ter	stop gained	-	NC_000002.12:g.74536729G>A	gnomAD
rs1020801673	p.Ser299Leu	missense variant	-	NC_000002.12:g.74536725G>A	TOPMed,gnomAD
rs1384877002	p.Ser299Pro	missense variant	-	NC_000002.12:g.74536726A>G	gnomAD
NCI-TCGA novel	p.Lys300IlePheSerTerUnkUnk	frameshift	-	NC_000002.12:g.74536722_74536723insA	NCI-TCGA
rs1358134591	p.Gln302His	missense variant	-	NC_000002.12:g.74536715C>G	TOPMed,gnomAD
rs1254326849	p.Gly303Trp	missense variant	-	NC_000002.12:g.74536714C>A	gnomAD
rs1434720691	p.Glu304Ter	stop gained	-	NC_000002.12:g.74536711C>A	gnomAD
rs190924518	p.Arg306His	missense variant	-	NC_000002.12:g.74536467C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs190924518	p.Arg306Pro	missense variant	-	NC_000002.12:g.74536467C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753208381	p.Arg306Cys	missense variant	-	NC_000002.12:g.74536468G>A	TOPMed
rs777259784	p.Val307Ile	missense variant	-	NC_000002.12:g.74536465C>T	ExAC,gnomAD
rs1315777875	p.Arg308His	missense variant	-	NC_000002.12:g.74536461C>T	TOPMed,gnomAD
rs551168798	p.Arg308Cys	missense variant	-	NC_000002.12:g.74536462G>A	TOPMed,gnomAD
rs1338721909	p.Leu309Pro	missense variant	-	NC_000002.12:g.74536458A>G	TOPMed
rs771328763	p.Lys310Thr	missense variant	-	NC_000002.12:g.74536455T>G	ExAC,TOPMed,gnomAD
rs747485090	p.Gly312Ser	missense variant	-	NC_000002.12:g.74536450C>T	ExAC,TOPMed,gnomAD
rs1354324410	p.Gly312Asp	missense variant	-	NC_000002.12:g.74536449C>T	gnomAD
rs758787890	p.Ala313Thr	missense variant	-	NC_000002.12:g.74536447C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His314Asp	missense variant	-	NC_000002.12:g.74536444G>C	NCI-TCGA
rs1397843593	p.His314Asn	missense variant	-	NC_000002.12:g.74536444G>T	gnomAD
rs748431088	p.His314Gln	missense variant	-	NC_000002.12:g.74536442G>T	ExAC,gnomAD
rs755179913	p.Gly316Glu	missense variant	-	NC_000002.12:g.74536437C>T	ExAC,gnomAD
COSM115719	p.Gly316Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536438C>G	NCI-TCGA Cosmic
rs755179913	p.Gly316Val	missense variant	-	NC_000002.12:g.74536437C>A	ExAC,gnomAD
rs753852653	p.Glu317Lys	missense variant	-	NC_000002.12:g.74536435C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu317Asp	missense variant	-	NC_000002.12:g.74536433C>A	NCI-TCGA
rs1190465936	p.Glu317Asp	missense variant	-	NC_000002.12:g.74536433C>G	TOPMed
rs766420467	p.Arg319Gln	missense variant	-	NC_000002.12:g.74536428C>T	ExAC,TOPMed,gnomAD
rs1474992303	p.Arg319Trp	missense variant	-	NC_000002.12:g.74536429G>A	gnomAD
rs1419686797	p.Val320Leu	missense variant	-	NC_000002.12:g.74536426C>A	gnomAD
rs1251179417	p.Val322Ile	missense variant	-	NC_000002.12:g.74536420C>T	gnomAD
NCI-TCGA novel	p.Leu323Met	missense variant	-	NC_000002.12:g.74536417G>T	NCI-TCGA
rs751469919	p.Lys324Arg	missense variant	-	NC_000002.12:g.74536413T>C	ExAC,gnomAD
rs1372808477	p.Ala325Pro	missense variant	-	NC_000002.12:g.74536411C>G	TOPMed
rs762713525	p.Trp328Leu	missense variant	-	NC_000002.12:g.74536401C>A	ExAC,gnomAD
rs186371653	p.Gly329Ser	missense variant	-	NC_000002.12:g.74536399C>T	1000Genomes,ExAC,gnomAD
rs186371653	p.Gly329Arg	missense variant	-	NC_000002.12:g.74536399C>G	1000Genomes,ExAC,gnomAD
rs138480120	p.Arg334His	missense variant	-	NC_000002.12:g.74536383C>T	ESP,ExAC,TOPMed,gnomAD
rs201446673	p.Arg334Cys	missense variant	-	NC_000002.12:g.74536384G>A	ExAC,gnomAD
rs1356378361	p.Trp336Ter	stop gained	-	NC_000002.12:g.74536376C>T	TOPMed
rs1397835263	p.Asp337Asn	missense variant	-	NC_000002.12:g.74536375C>T	TOPMed
rs770436498	p.His339Tyr	missense variant	-	NC_000002.12:g.74536369G>A	ExAC,gnomAD
rs1293550393	p.His339Gln	missense variant	-	NC_000002.12:g.74536367A>C	TOPMed
rs747492537	p.Ala341Val	missense variant	-	NC_000002.12:g.74536362G>A	ExAC,gnomAD
rs148186148	p.Ser342Arg	missense variant	-	NC_000002.12:g.74536358G>T	ESP,ExAC,TOPMed,gnomAD
rs1461186557	p.Ser342Arg	missense variant	-	NC_000002.12:g.74536360T>G	gnomAD
rs200579857	p.Val343Met	missense variant	-	NC_000002.12:g.74536357C>T	ESP,ExAC,TOPMed,gnomAD
rs755267872	p.Val344Ala	missense variant	-	NC_000002.12:g.74536353A>G	ExAC,gnomAD
rs762973031	p.Arg346Gln	missense variant	-	NC_000002.12:g.74536347C>T	ExAC,TOPMed,gnomAD
rs367718984	p.Arg346Trp	missense variant	-	NC_000002.12:g.74536348G>A	ESP
rs1177992128	p.Leu348Pro	missense variant	-	NC_000002.12:g.74536341A>G	TOPMed,gnomAD
rs756167221	p.Gly351Arg	missense variant	-	NC_000002.12:g.74536333C>T	ExAC,TOPMed,gnomAD
rs77262790	p.Arg354Gln	missense variant	-	NC_000002.12:g.74536323C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1450765743	p.Arg354Ter	stop gained	-	NC_000002.12:g.74536324G>A	TOPMed,gnomAD
rs201617146	p.Ala356Thr	missense variant	-	NC_000002.12:g.74536318C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1350815387	p.Leu357Pro	missense variant	-	NC_000002.12:g.74536314A>G	gnomAD
rs1452923144	p.Gly359Val	missense variant	-	NC_000002.12:g.74536308C>A	TOPMed
rs374619238	p.Ala360Thr	missense variant	-	NC_000002.12:g.74536306C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759143975	p.Ala360Asp	missense variant	-	NC_000002.12:g.74536305G>T	ExAC,gnomAD
rs865846469	p.Arg361Cys	missense variant	-	NC_000002.12:g.74536303G>A	TOPMed,gnomAD
rs765857380	p.Arg361His	missense variant	-	NC_000002.12:g.74536302C>T	ExAC,TOPMed,gnomAD
rs760202534	p.Met362Ile	missense variant	-	NC_000002.12:g.74536298C>T	ExAC,gnomAD
rs143457594	p.Gly365Ser	missense variant	-	NC_000002.12:g.74536291C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143457594	p.Gly365Arg	missense variant	-	NC_000002.12:g.74536291C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1169427067	p.Met366Val	missense variant	-	NC_000002.12:g.74536148T>C	gnomAD
rs770187289	p.Ile369Val	missense variant	-	NC_000002.12:g.74536139T>C	ExAC,gnomAD
rs1422495159	p.His370Tyr	missense variant	-	NC_000002.12:g.74536136G>A	gnomAD
rs148743316	p.Val374Leu	missense variant	-	NC_000002.12:g.74536124C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148743316	p.Val374Phe	missense variant	-	NC_000002.12:g.74536124C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs77706750	p.Arg375His	missense variant	-	NC_000002.12:g.74536120C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114785633	p.Arg375Cys	missense variant	-	NC_000002.12:g.74536121G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114785633	p.Arg375Gly	missense variant	-	NC_000002.12:g.74536121G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000247543	p.Arg375His	missense variant	-	NC_000002.12:g.74536120C>T	ClinVar
rs1473059709	p.Gln379Arg	missense variant	-	NC_000002.12:g.74536108T>C	TOPMed
rs768947832	p.Leu381Phe	missense variant	-	NC_000002.12:g.74536103G>A	ExAC,gnomAD
rs775640190	p.Trp384Arg	missense variant	-	NC_000002.12:g.74536094A>G	ExAC,TOPMed,gnomAD
rs1356232828	p.Lys385Met	missense variant	-	NC_000002.12:g.74536090T>A	gnomAD
rs553574295	p.His388Asn	missense variant	-	NC_000002.12:g.74536082G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs969774550	p.His388Gln	missense variant	-	NC_000002.12:g.74536080G>T	TOPMed
COSM3583413	p.Lys389Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536077C>G	NCI-TCGA Cosmic
rs1351583971	p.Lys389Arg	missense variant	-	NC_000002.12:g.74536078T>C	TOPMed
rs746031886	p.Ile391Leu	missense variant	-	NC_000002.12:g.74536073T>G	ExAC,gnomAD
rs1357367352	p.Ile391Met	missense variant	-	NC_000002.12:g.74536071G>C	TOPMed,gnomAD
rs1410350908	p.Asp395Val	missense variant	-	NC_000002.12:g.74536060T>A	gnomAD
rs748133530	p.Cys396Arg	missense variant	-	NC_000002.12:g.74536058A>G	ExAC,gnomAD
rs1339553328	p.Cys396Phe	missense variant	-	NC_000002.12:g.74536057C>A	gnomAD
COSM477653	p.His398Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536050A>C	NCI-TCGA Cosmic
rs778880659	p.His398Gln	missense variant	-	NC_000002.12:g.74536050A>T	ExAC,gnomAD
rs1290840534	p.Gly403Glu	missense variant	-	NC_000002.12:g.74536036C>T	TOPMed
rs753657092	p.Gly403Arg	missense variant	-	NC_000002.12:g.74536037C>T	ExAC,TOPMed,gnomAD
rs755800115	p.Val404Ile	missense variant	-	NC_000002.12:g.74536034C>T	ExAC,gnomAD
rs199834184	p.Arg405Gln	missense variant	-	NC_000002.12:g.74536030C>T	ESP,ExAC,TOPMed,gnomAD
rs995890167	p.Arg405Trp	missense variant	-	NC_000002.12:g.74536031G>A	TOPMed,gnomAD
rs150084938	p.Asn407Lys	missense variant	-	NC_000002.12:g.74536023G>T	ESP,ExAC,TOPMed,gnomAD
rs1026411131	p.Thr411Asn	missense variant	-	NC_000002.12:g.74536012G>T	TOPMed,gnomAD
rs1335724227	p.Gly412Arg	missense variant	-	NC_000002.12:g.74536010C>G	gnomAD
rs1226699915	p.Ala413Thr	missense variant	-	NC_000002.12:g.74536007C>T	gnomAD
rs1390515264	p.Glu414Asp	missense variant	-	NC_000002.12:g.74536002C>A	TOPMed,gnomAD
rs1375568938	p.Thr415Ser	missense variant	-	NC_000002.12:g.74536000G>C	gnomAD
rs1447393207	p.Arg416Ser	missense variant	-	NC_000002.12:g.74535996C>G	gnomAD
rs752149505	p.Arg416Lys	missense variant	-	NC_000002.12:g.74535997C>T	ExAC
rs1433826439	p.Ile417Thr	missense variant	-	NC_000002.12:g.74535754A>G	gnomAD
rs145303536	p.Arg418Leu	missense variant	-	NC_000002.12:g.74535751C>A	ESP,ExAC,TOPMed,gnomAD
rs145303536	p.Arg418Gln	missense variant	-	NC_000002.12:g.74535751C>T	ESP,ExAC,TOPMed,gnomAD
rs548268627	p.Arg418Ter	stop gained	-	NC_000002.12:g.74535752G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1418492742	p.Gly422Ser	missense variant	-	NC_000002.12:g.74535740C>T	gnomAD
rs371670966	p.Arg423Cys	missense variant	-	NC_000002.12:g.74535737G>A	ExAC,gnomAD
rs763157434	p.Arg423Leu	missense variant	-	NC_000002.12:g.74535736C>A	ExAC,TOPMed,gnomAD
rs371670966	p.Arg423Ser	missense variant	-	NC_000002.12:g.74535737G>T	ExAC,gnomAD
rs763157434	p.Arg423His	missense variant	-	NC_000002.12:g.74535736C>T	ExAC,TOPMed,gnomAD
rs759864482	p.Ser424Asn	missense variant	-	NC_000002.12:g.74535733C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser424Arg	missense variant	-	NC_000002.12:g.74535732G>C	NCI-TCGA
rs369058623	p.His426Asn	missense variant	-	NC_000002.12:g.74535728G>T	ESP,ExAC,TOPMed,gnomAD
rs766576618	p.Glu427Gln	missense variant	-	NC_000002.12:g.74535725C>G	ExAC,TOPMed,gnomAD
rs766576618	p.Glu427Lys	missense variant	-	NC_000002.12:g.74535725C>T	ExAC,TOPMed,gnomAD
rs772009677	p.Arg429Leu	missense variant	-	NC_000002.12:g.74535718C>A	ExAC,gnomAD
rs144818330	p.Arg429Ter	stop gained	-	NC_000002.12:g.74535719G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772009677	p.Arg429Gln	missense variant	-	NC_000002.12:g.74535718C>T	ExAC,gnomAD
COSM443238	p.Val430Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535716C>T	NCI-TCGA Cosmic
rs749274248	p.Val430Ala	missense variant	-	NC_000002.12:g.74535715A>G	ExAC,gnomAD
rs775264232	p.Glu431Lys	missense variant	-	NC_000002.12:g.74535713C>T	ExAC,TOPMed,gnomAD
rs1017236072	p.Val432Met	missense variant	-	NC_000002.12:g.74535710C>T	TOPMed,gnomAD
rs1299252092	p.Ile434Val	missense variant	-	NC_000002.12:g.74535704T>C	gnomAD
rs1324233550	p.Gly435Ala	missense variant	-	NC_000002.12:g.74535700C>G	TOPMed
rs756982019	p.Gly436Glu	missense variant	-	NC_000002.12:g.74535697C>T	ExAC,gnomAD
rs781047693	p.Gly436Arg	missense variant	-	NC_000002.12:g.74535698C>T	ExAC,TOPMed,gnomAD
rs756982019	p.Gly436Ala	missense variant	-	NC_000002.12:g.74535697C>G	ExAC,gnomAD
rs1466120938	p.Pro437Arg	missense variant	-	NC_000002.12:g.74535694G>C	gnomAD
rs777373456	p.Pro439Ser	missense variant	-	NC_000002.12:g.74535689G>A	ExAC,TOPMed,gnomAD
rs1276796621	p.Pro439His	missense variant	-	NC_000002.12:g.74535688G>T	TOPMed
rs907408938	p.Leu440Phe	missense variant	-	NC_000002.12:g.74535686G>A	TOPMed,gnomAD
rs753287287	p.Arg441His	missense variant	-	NC_000002.12:g.74535682C>T	ExAC,gnomAD
rs750072073	p.Arg441Cys	missense variant	-	NC_000002.12:g.74535683G>A	ExAC,TOPMed,gnomAD
COSM443237	p.Gly443Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535676C>A	NCI-TCGA Cosmic
rs1259557207	p.Asp448Gly	missense variant	-	NC_000002.12:g.74535661T>C	gnomAD
COSM1307010	p.Asp449Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535659C>T	NCI-TCGA Cosmic
rs1483621185	p.Trp450Arg	missense variant	-	NC_000002.12:g.74535656A>T	gnomAD
rs767139916	p.Thr452Ile	missense variant	-	NC_000002.12:g.74535649G>A	TOPMed
NCI-TCGA novel	p.Thr452ProPheSerTerUnk	frameshift	-	NC_000002.12:g.74535649_74535650GT>-	NCI-TCGA
rs767139916	p.Thr452Asn	missense variant	-	NC_000002.12:g.74535649G>T	TOPMed
rs376233864	p.Val457Leu	missense variant	-	NC_000002.12:g.74535635C>G	ESP,ExAC,TOPMed,gnomAD
COSM1326957	p.Ala458Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535632C>T	NCI-TCGA Cosmic
rs754216835	p.Leu462Gln	missense variant	-	NC_000002.12:g.74535619A>T	ExAC,gnomAD
rs1309534254	p.Gly465Asp	missense variant	-	NC_000002.12:g.74535610C>T	gnomAD
rs1309534254	p.Gly465Ala	missense variant	-	NC_000002.12:g.74535610C>G	gnomAD
COSM1409609	p.Ala467Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535604G>T	NCI-TCGA Cosmic
rs1218437521	p.Ala467Thr	missense variant	-	NC_000002.12:g.74535605C>T	gnomAD
rs750567337	p.His469Arg	missense variant	-	NC_000002.12:g.74535598T>C	ExAC,gnomAD
rs1230767257	p.His469Tyr	missense variant	-	NC_000002.12:g.74535599G>A	TOPMed
rs761764571	p.Gly470Ser	missense variant	-	NC_000002.12:g.74535596C>T	ExAC,TOPMed,gnomAD
rs761764571	p.Gly470Cys	missense variant	-	NC_000002.12:g.74535596C>A	ExAC,TOPMed,gnomAD
rs1300621939	p.Gly470Val	missense variant	-	NC_000002.12:g.74535595C>A	gnomAD
rs759576983	p.Thr474Ile	missense variant	-	NC_000002.12:g.74535450G>A	ExAC,gnomAD
rs776660493	p.Ile482Val	missense variant	-	NC_000002.12:g.74535427T>C	ExAC,gnomAD
rs1178246345	p.Glu484Lys	missense variant	-	NC_000002.12:g.74535421C>T	gnomAD
NCI-TCGA novel	p.Ser488Ile	missense variant	-	NC_000002.12:g.74535408C>A	NCI-TCGA
rs772977368	p.Arg491His	missense variant	-	NC_000002.12:g.74535399C>T	ExAC,TOPMed,gnomAD
rs555821491	p.Arg491Cys	missense variant	-	NC_000002.12:g.74535400G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1356205386	p.Gly494Arg	missense variant	-	NC_000002.12:g.74535391C>T	gnomAD
rs1264218210	p.Glu496Lys	missense variant	-	NC_000002.12:g.74535385C>T	gnomAD
rs771639460	p.Asp500Gly	missense variant	-	NC_000002.12:g.74535372T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln501His	missense variant	-	NC_000002.12:g.74535368C>A	NCI-TCGA
rs1386074090	p.His504Tyr	missense variant	-	NC_000002.12:g.74535361G>A	gnomAD
rs747772829	p.His505Pro	missense variant	-	NC_000002.12:g.74535357T>G	ExAC,gnomAD
NCI-TCGA novel	p.His505Arg	missense variant	-	NC_000002.12:g.74535357T>C	NCI-TCGA
rs778429679	p.Gly506Ser	missense variant	-	NC_000002.12:g.74535355C>T	ExAC,gnomAD
rs1386026810	p.Thr507Asn	missense variant	-	NC_000002.12:g.74535351G>T	gnomAD
rs145420599	p.His508Arg	missense variant	-	NC_000002.12:g.74535348T>C	ESP,ExAC,TOPMed,gnomAD
rs756565572	p.Ile509Thr	missense variant	-	NC_000002.12:g.74535345A>G	ExAC,gnomAD
rs1380978373	p.Cys511Phe	missense variant	-	NC_000002.12:g.74535339C>A	gnomAD
rs750738016	p.Lys512Glu	missense variant	-	NC_000002.12:g.74535337T>C	ExAC,gnomAD
rs1438020493	p.Arg513Lys	missense variant	-	NC_000002.12:g.74535333C>T	gnomAD
rs781559258	p.Thr514Ile	missense variant	-	NC_000002.12:g.74535330G>A	ExAC,gnomAD
rs1199955943	p.Gly515Glu	missense variant	-	NC_000002.12:g.74535327C>T	gnomAD
NCI-TCGA novel	p.Thr516Asn	missense variant	-	NC_000002.12:g.74535324G>T	NCI-TCGA
rs757423150	p.Thr516Ile	missense variant	-	NC_000002.12:g.74535324G>A	ExAC,TOPMed,gnomAD
rs758529496	p.Arg517His	missense variant	-	NC_000002.12:g.74535321C>T	ExAC,TOPMed,gnomAD
rs147506172	p.Arg517Cys	missense variant	-	NC_000002.12:g.74535322G>A	ESP,ExAC,TOPMed,gnomAD
rs147506172	p.Arg517Ser	missense variant	-	NC_000002.12:g.74535322G>T	ESP,ExAC,TOPMed,gnomAD
rs758529496	p.Arg517Pro	missense variant	-	NC_000002.12:g.74535321C>G	ExAC,TOPMed,gnomAD
rs1057381232	p.Thr519Ile	missense variant	-	NC_000002.12:g.74535315G>A	gnomAD
rs753894081	p.Ala520Val	missense variant	-	NC_000002.12:g.74535312G>A	ExAC,TOPMed,gnomAD
rs143253564	p.Val522Ile	missense variant	-	NC_000002.12:g.74535307C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile523Asn	missense variant	-	NC_000002.12:g.74535303A>T	NCI-TCGA
rs760605034	p.Glu526Val	missense variant	-	NC_000002.12:g.74535294T>A	ExAC,gnomAD
COSM4826995	p.Glu526Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535295C>G	NCI-TCGA Cosmic
rs767305617	p.Glu526Asp	missense variant	-	NC_000002.12:g.74535293C>G	ExAC,TOPMed,gnomAD
rs763719633	p.Ala528Thr	missense variant	-	NC_000002.12:g.74534772C>T	ExAC,TOPMed,gnomAD
rs1045827309	p.Asp530Tyr	missense variant	-	NC_000002.12:g.74534766C>A	TOPMed
rs922973106	p.Leu533Pro	missense variant	-	NC_000002.12:g.74534756A>G	TOPMed,gnomAD
NCI-TCGA novel	p.His534Arg	missense variant	-	NC_000002.12:g.74534753T>C	NCI-TCGA
rs1466479462	p.Ser535Thr	missense variant	-	NC_000002.12:g.74534751A>T	gnomAD
rs1192116622	p.Ala536Val	missense variant	-	NC_000002.12:g.74534747G>A	gnomAD
rs774864986	p.Ala536Pro	missense variant	-	NC_000002.12:g.74534748C>G	ExAC,TOPMed,gnomAD
rs368911743	p.Ala542Thr	missense variant	-	NC_000002.12:g.74534730C>T	ESP,ExAC,TOPMed,gnomAD
rs1440293220	p.Ile544Leu	missense variant	-	NC_000002.12:g.74534724T>G	gnomAD
rs747365929	p.Glu545Lys	missense variant	-	NC_000002.12:g.74534721C>T	ExAC,TOPMed,gnomAD
rs1317067301	p.Asp546Val	missense variant	-	NC_000002.12:g.74534717T>A	gnomAD
rs1255981248	p.Arg547Trp	missense variant	-	NC_000002.12:g.74534715G>A	TOPMed,gnomAD
rs200922742	p.Arg547Gln	missense variant	-	NC_000002.12:g.74534714C>T	ESP,ExAC,TOPMed,gnomAD
rs1379854381	p.Pro548His	missense variant	-	NC_000002.12:g.74534711G>T	TOPMed,gnomAD
rs144364530	p.Leu549Pro	missense variant	-	NC_000002.12:g.74534708A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu549Met	missense variant	-	NC_000002.12:g.74534709G>T	NCI-TCGA
rs748343116	p.His550Leu	missense variant	-	NC_000002.12:g.74534705T>A	ExAC,TOPMed,gnomAD
rs1380779977	p.His550Asp	missense variant	-	NC_000002.12:g.74534706G>C	gnomAD
rs748343116	p.His550Arg	missense variant	-	NC_000002.12:g.74534705T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met551Leu	missense variant	-	NC_000002.12:g.74534703T>A	NCI-TCGA
RCV000513664	p.Leu552Ser	missense variant	-	NC_000002.12:g.74534699A>G	ClinVar
rs1553396476	p.Leu552Ser	missense variant	-	NC_000002.12:g.74534699A>G	-
rs778884153	p.Tyr553Ser	missense variant	-	NC_000002.12:g.74534696T>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr553Ter	stop gained	-	NC_000002.12:g.74534695G>C	NCI-TCGA
rs199744071	p.Tyr553His	missense variant	-	NC_000002.12:g.74534697A>G	1000Genomes,gnomAD
rs145278325	p.Ala556Val	missense variant	-	NC_000002.12:g.74534687G>A	ESP,ExAC,TOPMed,gnomAD
rs781190080	p.Glu557Lys	missense variant	-	NC_000002.12:g.74534685C>T	ExAC,gnomAD
rs1471526390	p.Glu558Lys	missense variant	-	NC_000002.12:g.74534682C>T	gnomAD
rs1239536770	p.Asn559Asp	missense variant	-	NC_000002.12:g.74534679T>C	gnomAD
NCI-TCGA novel	p.Cys560Ter	stop gained	-	NC_000002.12:g.74534674G>T	NCI-TCGA
rs1437473218	p.Leu561Met	missense variant	-	NC_000002.12:g.74534673G>T	TOPMed
rs1285493910	p.Leu561Pro	missense variant	-	NC_000002.12:g.74534672A>G	TOPMed
rs1370249917	p.Ser563Asn	missense variant	-	NC_000002.12:g.74534666C>T	gnomAD
rs370672032	p.Arg566His	missense variant	-	NC_000002.12:g.74534657C>T	ESP,ExAC,TOPMed,gnomAD
rs1223533478	p.Arg566Cys	missense variant	-	NC_000002.12:g.74534658G>A	TOPMed,gnomAD
rs1223533478	p.Arg566Ser	missense variant	-	NC_000002.12:g.74534658G>T	TOPMed,gnomAD
rs763808433	p.Asn569Lys	missense variant	-	NC_000002.12:g.74534647G>T	ExAC,TOPMed,gnomAD
rs1227742150	p.Tyr572Cys	missense variant	-	NC_000002.12:g.74534639T>C	gnomAD
rs1357361152	p.His574Tyr	missense variant	-	NC_000002.12:g.74534634G>A	gnomAD
rs1311623928	p.Arg575Trp	missense variant	-	NC_000002.12:g.74534631G>A	TOPMed,gnomAD
rs762623422	p.Arg575Gln	missense variant	-	NC_000002.12:g.74534630C>T	ExAC,gnomAD
rs368390904	p.Arg576His	missense variant	-	NC_000002.12:g.74534627C>T	ESP,ExAC,TOPMed,gnomAD
rs779607152	p.Arg576Cys	missense variant	-	NC_000002.12:g.74534628G>A	ExAC,TOPMed,gnomAD
rs138622685	p.Arg579Gln	missense variant	-	NC_000002.12:g.74534618C>T	ESP,ExAC,TOPMed,gnomAD
rs1223314250	p.Phe580Ile	missense variant	-	NC_000002.12:g.74534616A>T	TOPMed
COSM4403890	p.Ser581Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74534613A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.His585Asn	missense variant	-	NC_000002.12:g.74534601G>T	NCI-TCGA
rs144775651	p.Arg589Ter	stop gained	-	NC_000002.12:g.74534589G>A	ESP,ExAC,TOPMed,gnomAD
rs916033845	p.Arg589Gln	missense variant	-	NC_000002.12:g.74534588C>T	gnomAD
rs771577454	p.Ala590Thr	missense variant	-	NC_000002.12:g.74534586C>T	ExAC,gnomAD
rs370971636	p.Phe592Leu	missense variant	-	NC_000002.12:g.74534580A>G	ESP,ExAC,gnomAD
rs773741483	p.Arg593Ser	missense variant	-	NC_000002.12:g.74534575C>G	ExAC,TOPMed,gnomAD
rs991535122	p.Pro594His	missense variant	-	NC_000002.12:g.74534573G>T	gnomAD
rs991535122	p.Pro594Leu	missense variant	-	NC_000002.12:g.74534573G>A	gnomAD
rs1245974379	p.Lys595Asn	missense variant	-	NC_000002.12:g.74534569C>A	gnomAD
rs755626043	p.Arg598His	missense variant	-	NC_000002.12:g.74534561C>T	TOPMed,gnomAD
rs748365123	p.Arg598Cys	missense variant	-	NC_000002.12:g.74534562G>A	ExAC,TOPMed,gnomAD
rs779161522	p.Val602Met	missense variant	-	NC_000002.12:g.74534550C>T	ExAC,gnomAD
rs779944234	p.Trp603Cys	missense variant	-	NC_000002.12:g.74534545C>G	ExAC,gnomAD
rs779944234	p.Trp603Ter	stop gained	-	NC_000002.12:g.74534545C>T	ExAC,gnomAD
COSM3799206	p.Glu605Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74534541C>G	NCI-TCGA Cosmic
rs751461263	p.Glu605Lys	missense variant	-	NC_000002.12:g.74534541C>T	ExAC,TOPMed,gnomAD
COSM1023058	p.Cys606Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74534537C>T	NCI-TCGA Cosmic
rs377574350	p.His607Asp	missense variant	-	NC_000002.12:g.74534535G>C	ESP,ExAC,TOPMed,gnomAD
rs372589604	p.His607Gln	missense variant	-	NC_000002.12:g.74534533A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His609GlnPheSerTerUnk	frameshift	-	NC_000002.12:g.74534421_74534428TGTGGTAA>-	NCI-TCGA
rs777658017	p.Tyr610His	missense variant	-	NC_000002.12:g.74534427A>G	ExAC,gnomAD
rs1255641757	p.Tyr610Ter	stop gained	-	NC_000002.12:g.74534425G>C	gnomAD
NCI-TCGA novel	p.Asp614Gly	missense variant	-	NC_000002.12:g.74534414T>C	NCI-TCGA
rs758256615	p.Asp614Asn	missense variant	-	NC_000002.12:g.74534415C>T	ExAC
RCV000252508	p.Ile615Phe	missense variant	-	NC_000002.12:g.74534412T>A	ClinVar
rs904517258	p.Ile615Thr	missense variant	-	NC_000002.12:g.74534411A>G	TOPMed,gnomAD
rs17010021	p.Ile615Phe	missense variant	-	NC_000002.12:g.74534412T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1023056	p.His618MetPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.74534400_74534403AGTG>-	NCI-TCGA Cosmic
rs1257522607	p.His618Tyr	missense variant	-	NC_000002.12:g.74534403G>A	gnomAD
rs202011389	p.Asp620Gly	missense variant	-	NC_000002.12:g.74534396T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1314189368	p.Ile621Leu	missense variant	-	NC_000002.12:g.74534394T>G	gnomAD
rs753380842	p.Leu622Pro	missense variant	-	NC_000002.12:g.74534390A>G	ExAC,gnomAD
rs768120899	p.Gly626Ser	missense variant	-	NC_000002.12:g.74534379C>T	ExAC,TOPMed,gnomAD
rs929424088	p.Lys628Ter	stop gained	-	NC_000002.12:g.74534373T>A	TOPMed
rs1411923252	p.Gly632Ser	missense variant	-	NC_000002.12:g.74534361C>T	gnomAD
rs1169749481	p.His633Gln	missense variant	-	NC_000002.12:g.74534356G>C	TOPMed,gnomAD
rs1460365711	p.Lys634Ile	missense variant	-	NC_000002.12:g.74534354T>A	gnomAD
rs774786906	p.Ala635Pro	missense variant	-	NC_000002.12:g.74534352C>G	ExAC,TOPMed,gnomAD
rs764328902	p.Cys638Ser	missense variant	-	NC_000002.12:g.74534343A>T	ExAC,gnomAD
rs763262128	p.Cys638Ser	missense variant	-	NC_000002.12:g.74534342C>G	ExAC,gnomAD
rs745944878	p.Glu640Ter	stop gained	-	NC_000002.12:g.74534337C>A	ExAC,gnomAD
rs745944878	p.Glu640Lys	missense variant	-	NC_000002.12:g.74534337C>T	ExAC,gnomAD
rs773192522	p.Thr642Ile	missense variant	-	NC_000002.12:g.74534330G>A	ExAC
rs747995192	p.Glu643Val	missense variant	-	NC_000002.12:g.74534327T>A	ExAC,TOPMed,gnomAD
rs747995192	p.Glu643Ala	missense variant	-	NC_000002.12:g.74534327T>G	ExAC,TOPMed,gnomAD
rs1246556909	p.Cys644Ter	stop gained	-	NC_000002.12:g.74534323A>T	TOPMed
rs916087535	p.Glu646Lys	missense variant	-	NC_000002.12:g.74534319C>T	gnomAD
rs916087535	p.Glu646Gln	missense variant	-	NC_000002.12:g.74534319C>G	gnomAD
rs1288911326	p.Asp647Gly	missense variant	-	NC_000002.12:g.74534236T>C	gnomAD
rs551992223	p.Lys650Thr	missense variant	-	NC_000002.12:g.74534227T>G	1000Genomes,ExAC,gnomAD
rs1353900393	p.Arg651Trp	missense variant	-	NC_000002.12:g.74534225G>A	gnomAD
rs1024141954	p.Arg651Gln	missense variant	-	NC_000002.12:g.74534224C>T	TOPMed,gnomAD
rs768559100	p.Glu653Lys	missense variant	-	NC_000002.12:g.74534219C>T	ExAC,gnomAD
rs1332589127	p.Cys654Tyr	missense variant	-	NC_000002.12:g.74534215C>T	gnomAD
NCI-TCGA novel	p.Ala655Asp	missense variant	-	NC_000002.12:g.74534212G>T	NCI-TCGA
rs147915651	p.Ala655Thr	missense variant	-	NC_000002.12:g.74534213C>T	ESP,TOPMed
rs1016152170	p.Glu659Gly	missense variant	-	NC_000002.12:g.74534200T>C	gnomAD
rs749074923	p.Glu659Lys	missense variant	-	NC_000002.12:g.74534201C>T	ExAC,gnomAD
rs769578496	p.Thr663Pro	missense variant	-	NC_000002.12:g.74534189T>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu669Ile	missense variant	-	NC_000002.12:g.74534171G>T	NCI-TCGA
rs756702540	p.Arg671Gln	missense variant	-	NC_000002.12:g.74534164C>T	ExAC,gnomAD
rs368539606	p.Arg671Gly	missense variant	-	NC_000002.12:g.74534165G>C	ESP,ExAC,TOPMed,gnomAD
rs368539606	p.Arg671Trp	missense variant	-	NC_000002.12:g.74534165G>A	ESP,ExAC,TOPMed,gnomAD
rs891628709	p.Asp673Gly	missense variant	-	NC_000002.12:g.74534158T>C	TOPMed
rs1200065113	p.Ile674Val	missense variant	-	NC_000002.12:g.74534156T>C	TOPMed,gnomAD
rs752150504	p.Ile674Asn	missense variant	-	NC_000002.12:g.74534155A>T	ExAC,gnomAD
rs778140028	p.Asp675Glu	missense variant	-	NC_000002.12:g.74534151G>C	ExAC,gnomAD
rs786204838	p.Cys676Tyr	missense variant	-	NC_000002.12:g.74534149C>T	UniProt,dbSNP
VAR_077909	p.Cys676Tyr	missense variant	-	NC_000002.12:g.74534149C>T	UniProt
rs786204838	p.Cys676Tyr	missense variant	-	NC_000002.12:g.74534149C>T	TOPMed
RCV000169743	p.Cys676Tyr	missense variant	-	NC_000002.12:g.74534149C>T	ClinVar
NCI-TCGA novel	p.Gln677Lys	missense variant	-	NC_000002.12:g.74534147G>T	NCI-TCGA
NCI-TCGA novel	p.Trp678Ter	stop gained	-	NC_000002.12:g.74534142C>T	NCI-TCGA
rs758822068	p.Ile679Thr	missense variant	-	NC_000002.12:g.74534140A>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr682Lys	missense variant	-	NC_000002.12:g.74534131G>T	NCI-TCGA
rs765545235	p.Thr682Met	missense variant	-	NC_000002.12:g.74534131G>A	ExAC,TOPMed,gnomAD
rs1156821859	p.Val684Met	missense variant	-	NC_000002.12:g.74534126C>T	TOPMed
rs1222689600	p.Lys685Arg	missense variant	-	NC_000002.12:g.74534122T>C	gnomAD
rs766518527	p.Gly687Ala	missense variant	-	NC_000002.12:g.74534116C>G	ExAC,gnomAD
rs774401306	p.Asn688Asp	missense variant	-	NC_000002.12:g.74534114T>C	ExAC,gnomAD
rs762913695	p.Ile690Val	missense variant	-	NC_000002.12:g.74534108T>C	ExAC,gnomAD
rs374003067	p.Ile690Asn	missense variant	-	NC_000002.12:g.74534107A>T	ESP,ExAC,TOPMed,gnomAD
COSM3695615	p.Leu691Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74534105G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu691Ile	missense variant	-	NC_000002.12:g.74534105G>T	NCI-TCGA
rs374700981	p.Val693Ile	missense variant	-	NC_000002.12:g.74533993C>T	ESP,TOPMed,gnomAD
COSM443236	p.Val694Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74533989A>T	NCI-TCGA Cosmic
rs1239731671	p.Asn696Ser	missense variant	-	NC_000002.12:g.74533983T>C	gnomAD
rs759403031	p.Asn698Asp	missense variant	-	NC_000002.12:g.74533978T>C	ExAC,gnomAD
rs1437104786	p.Glu700Ala	missense variant	-	NC_000002.12:g.74533971T>G	gnomAD
rs535514021	p.Val701Glu	missense variant	-	NC_000002.12:g.74533968A>T	ExAC,gnomAD
rs535514021	p.Val701Gly	missense variant	-	NC_000002.12:g.74533968A>C	ExAC,gnomAD
rs1203038187	p.Thr707Ile	missense variant	-	NC_000002.12:g.74533950G>A	TOPMed
rs1245476050	p.Met711Ile	missense variant	-	NC_000002.12:g.74533937C>A	gnomAD
rs1251151886	p.Lys712Gln	missense variant	-	NC_000002.12:g.74533936T>G	TOPMed
rs1481037984	p.Lys716Gln	missense variant	-	NC_000002.12:g.74533924T>G	TOPMed
rs1333726895	p.Tyr717His	missense variant	-	NC_000002.12:g.74533921A>G	gnomAD
rs772619628	p.Asp718Glu	missense variant	-	NC_000002.12:g.74533916A>T	ExAC,TOPMed,gnomAD
rs1354389622	p.Gly719Glu	missense variant	-	NC_000002.12:g.74533914C>T	gnomAD
rs371469750	p.His720Arg	missense variant	-	NC_000002.12:g.74533911T>C	ESP,ExAC,gnomAD
rs779386943	p.Ile722Leu	missense variant	-	NC_000002.12:g.74533906T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile722Thr	missense variant	-	NC_000002.12:g.74533905A>G	NCI-TCGA
rs1442343938	p.Val724Glu	missense variant	-	NC_000002.12:g.74533899A>T	gnomAD
rs755391218	p.Val724Met	missense variant	-	NC_000002.12:g.74533900C>T	ExAC,gnomAD
NCI-TCGA novel	p.His725Gln	missense variant	-	NC_000002.12:g.74533895G>T	NCI-TCGA
rs1031488108	p.Asn726Ser	missense variant	-	NC_000002.12:g.74533893T>C	TOPMed,gnomAD
rs569744999	p.Ile729Thr	missense variant	-	NC_000002.12:g.74533884A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile729Leu	missense variant	-	NC_000002.12:g.74533885T>G	NCI-TCGA
rs1469431760	p.Ile729Val	missense variant	-	NC_000002.12:g.74533885T>C	gnomAD
rs1357874197	p.Asp731Asn	missense variant	-	NC_000002.12:g.74533677C>T	TOPMed
rs1465968004	p.Ser734Cys	missense variant	-	NC_000002.12:g.74533668T>A	TOPMed
rs200529711	p.Glu735Asp	missense variant	-	NC_000002.12:g.74533663T>G	1000Genomes,ExAC,gnomAD
rs1341811424	p.Glu735Lys	missense variant	-	NC_000002.12:g.74533665C>T	TOPMed,gnomAD
rs1452548000	p.Glu736Lys	missense variant	-	NC_000002.12:g.74533662C>T	gnomAD
rs1177892506	p.Asn738Asp	missense variant	-	NC_000002.12:g.74533656T>C	gnomAD
rs374373616	p.Phe741Ser	missense variant	-	NC_000002.12:g.74533646A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs907373680	p.Phe741Leu	missense variant	-	NC_000002.12:g.74533647A>G	TOPMed
rs374373616	p.Phe741Tyr	missense variant	-	NC_000002.12:g.74533646A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs907373680	p.Phe741Val	missense variant	-	NC_000002.12:g.74533647A>C	TOPMed
rs766127175	p.Phe741Leu	missense variant	-	NC_000002.12:g.74533645A>T	ExAC,TOPMed,gnomAD
rs760513035	p.Glu742Lys	missense variant	-	NC_000002.12:g.74533644C>T	ExAC,gnomAD
rs1187213459	p.Arg743Cys	missense variant	-	NC_000002.12:g.74533641G>A	TOPMed,gnomAD
rs372712761	p.Arg743His	missense variant	-	NC_000002.12:g.74533640C>T	ESP,ExAC,TOPMed,gnomAD
rs1311742846	p.Tyr744Cys	missense variant	-	NC_000002.12:g.74533637T>C	TOPMed
NCI-TCGA novel	p.Gln747Ter	stop gained	-	NC_000002.12:g.74533629G>A	NCI-TCGA
rs773877944	p.Asn750Ser	missense variant	-	NC_000002.12:g.74533619T>C	ExAC,gnomAD
rs768102119	p.Gln751Lys	missense variant	-	NC_000002.12:g.74533617G>T	ExAC,TOPMed,gnomAD
rs763423249	p.Ile753Met	missense variant	-	NC_000002.12:g.74533609G>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007766	Intracranial Aneurysm	disease	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0265253	Stickler syndrome (disorder)	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C1402315	Vascular lesions	disease	BEFREE
C2020284	Stickler syndrome, type 1	disease	BEFREE;GENOMICS_ENGLAND
C4086165	Childhood Neuroblastoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001968	fibronectin binding	ISS
GO:0004720	protein-lysine 6-oxidase activity	NAS
GO:0004720	protein-lysine 6-oxidase activity	IBA
GO:0004720	protein-lysine 6-oxidase activity	IDA
GO:0005044	scavenger receptor activity	IEA
GO:0005507	copper ion binding	NAS
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001837	epithelial to mesenchymal transition	IDA
GO:0006897	endocytosis	IEA
GO:0006954	inflammatory response	ISS
GO:0006954	inflammatory response	IBA
GO:0018057	peptidyl-lysine oxidation	IBA
GO:0018057	peptidyl-lysine oxidation	IDA
GO:0021510	spinal cord development	ISS
GO:0030199	collagen fibril organization	IBA
GO:0030324	lung development	ISS
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0060021	roof of mouth development	ISS
GO:0061053	somite development	ISS
GO:1905590	fibronectin fibril organization	ISS
GO:2000329	negative regulation of T-helper 17 cell lineage commitment	ISS
GO:2001046	positive regulation of integrin-mediated signaling pathway	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	IDA
GO:0005615	extracellular space	ISS
GO:0005615	extracellular space	IBA
GO:0005634	nucleus	TAS
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IDA
GO:0016020	membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474290	Collagen formation	TAS
R-HSA-1566948	Elastic fibre formation	TAS
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures	TAS
R-HSA-2243919	Crosslinking of collagen fibrils	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C507011	A-83-01	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of LOXL3 mRNA	31023824
C496492	abrine	abrine results in increased expression of LOXL3 mRNA	31054353
D020106	Acrylamide	Acrylamide results in increased expression of LOXL3 mRNA	28959563
C015001	arsenite	arsenite affects the expression of LOXL3 mRNA	22959463
C015001	arsenite	arsenite results in decreased expression of LOXL3 mRNA	18929588
C015001	arsenite	TRP53 protein affects the reaction [arsenite results in decreased expression of LOXL3 mRNA]	18929588
D001280	Atrazine	Atrazine results in increased expression of LOXL3 mRNA	25929836
D001280	Atrazine	Atrazine results in increased expression of LOXL3 mRNA	22378314
C547126	AZM551248	AZM551248 results in increased expression of LOXL3 mRNA	22323515
C006780	bisphenol A	bisphenol A results in decreased expression of LOXL3 mRNA	29161229
C006780	bisphenol A	bisphenol A results in decreased expression of LOXL3 mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased methylation of LOXL3 gene	28505145
D002220	Carbamazepine	Carbamazepine affects the expression of LOXL3 mRNA	25979313
C074702	chromium hexavalent ion	chromium hexavalent ion results in increased expression of LOXL3 protein	28596144
D002945	Cisplatin	[Cisplatin co-treated with RELB mutant form co-treated with TNF protein] results in decreased expression of LOXL3 mRNA	23625948
D003471	Cuprizone	Cuprizone results in increased expression of LOXL3 mRNA	26577399
D003907	Dexamethasone	Dexamethasone results in decreased expression of LOXL3 mRNA	25047013
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of LOXL3 mRNA	21658437
D004237	Diuron	Diuron results in decreased expression of LOXL3 mRNA	25152437
D000431	Ethanol	Ethanol results in increased expression of LOXL3 mRNA	30319688
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of LOXL3 mRNA	17942748
C039281	furan	furan results in increased expression of LOXL3 mRNA	27387713
C039281	furan	furan results in increased methylation of LOXL3 gene	22079235
D006997	Hypochlorous Acid	Hypochlorous Acid results in decreased expression of LOXL3 mRNA	19376150
D000077146	Irinotecan	Irinotecan analog results in decreased expression of LOXL3 mRNA	18927307
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of LOXL3 mRNA	24796395
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of LOXL3 mRNA	26644586
C008261	lead acetate	lead acetate results in decreased expression of LOXL3 mRNA	22609695
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of LOXL3 mRNA	29191790
C000621807	MM-589	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of LOXL3 mRNA	31023824
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of LOXL3 mRNA	25926378
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of LOXL3 mRNA	20188158
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of LOXL3 mRNA	25729387
C586999	PTC-209	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of LOXL3 mRNA	31023824
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of LOXL3 mRNA	25895662
D012834	Silver	Silver results in increased expression of LOXL3 mRNA	27131904
D000077210	Sunitinib	Sunitinib results in decreased expression of LOXL3 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of LOXL3 mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of LOXL3 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of LOXL3 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of LOXL3 mRNA	27562557
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of LOXL3 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of LOXL3 mRNA	25729387
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of LOXL3 mRNA	26179874
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of LOXL3 mRNA	29024780
D014415	Tunicamycin	Tunicamycin results in decreased expression of LOXL3 mRNA	22378314
D014635	Valproic Acid	Valproic Acid affects the expression of LOXL3 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of LOXL3 mRNA	28001369
D014635	Valproic Acid	Valproic Acid results in increased expression of LOXL3 mRNA	23179753
D014635	Valproic Acid	Valproic Acid affects the expression of LOXL3 mRNA	17292431

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0186	Copper
KW-0963	Cytoplasm
KW-0209	Deafness
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0395	Inflammatory response
KW-0886	LTQ
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0560	Oxidoreductase
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal
KW-0757	Stickler syndrome
KW-0801	TPQ

Interpro

InterPro ID	InterPro Term
IPR001695	Lysyl_oxidase
IPR019828	Lysyl_oxidase_CS
IPR001190	SRCR
IPR017448	SRCR-like_dom
IPR036772	SRCR-like_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS00926	LYSYL_OXIDASE
PS00420	SRCR_1
PS50287	SRCR_2

Pfam

Pfam ID	Pfam Term
PF01186	Lysyl_oxidase
PF00530	SRCR

Gene: LOXL3

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

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction