CleftGeneDB-Search

Gene: HOXA3

Basic information

Tag	Content
Uniprot ID	O43365; A4D181;
Entrez ID	3200
Genbank protein ID	EAW93865.1; AAS00376.1; AAH15180.1; EAL24225.1;
Genbank nucleotide ID	NM_030661.4; XM_011515343.2; XM_005249731.2; XM_006715715.2; NM_153631.2; XM_005249732.3; XM_005249730.2;
Ensembl protein ID	ENSP00000379640; ENSP00000324884; ENSP00000484411;
Ensembl nucleotide ID	ENSG00000105997
Gene name	Homeobox protein Hox-A3
Gene symbol	HOXA3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Sequence	MQKATYYDSS AIYGGYPYQA ANGFAYNANQ QPYPASAALG ADGEYHRPAC SLQSPSSAGG 60 HPKAHELSEA CLRTLSAPPS QPPSLGEPPL HPPPPQAAPP APQPPQPAPQ PPAPTPAAPP 120 PPSSASPPQN ASNNPTPANA AKSPLLNSPT VAKQIFPWMK ESRQNTKQKT SSSSSGESCA 180 GDKSPPGQAS SKRARTAYTS AQLVELEKEF HFNRYLCRPR RVEMANLLNL TERQIKIWFQ 240 NRRMKYKKDQ KGKGMLTSSG GQSPSRSPVP PGAGGYLNSM HSLVNSVPYE PQSPPPFSKP 300 PQGTYGLPPA SYPASLPSCA PPPPPQKRYT AAGAGAGGTP DYDPHAHGLQ GNGSYGTPHI 360 QGSPVFVGGS YVEPMSNSGP ALFGLTHLPH AASGAMDYGG AGPLGSGHHH GPGPGEPHPT 420 YTDLTGHHPS QGRIQEAPKL THL 443

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	Species	Evidence	Details
1:1 ortholog	HOXA3	509991	Q08DG7		Bos taurus	Prediction	More>>
1:1 ortholog	HOXA3	482368	J9NWE8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	HOXA3		A0A452EKL1		Capra hircus	Prediction	More>>
1:1 ortholog	HOXA3	3200	O43365		Homo sapiens	Prediction	More>>
1:1 ortholog	Hoxa3	15400	P02831	CPO	Mus musculus	Publication	More>>
1:1 ortholog	HOXA3	100519809	F1SHT1		Sus scrofa	Prediction	More>>
1:1 ortholog	Hoxa3	108348320	D3ZM81		Rattus norvegicus	Prediction	More>>
1:1 ortholog	hoxa3a	58049	Q8AWZ2		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs977011633	p.Gln2His	missense variant	-	NC_000007.14:g.27110635T>G	TOPMed
rs1326302466	p.Ala4Val	missense variant	-	NC_000007.14:g.27110630G>A	gnomAD
rs767689192	p.Thr5Ile	missense variant	-	NC_000007.14:g.27110627G>A	ExAC,TOPMed,gnomAD
rs757907805	p.Tyr7Cys	missense variant	-	NC_000007.14:g.27110621T>C	ExAC,gnomAD
rs1300171872	p.Ser10Leu	missense variant	-	NC_000007.14:g.27110612G>A	gnomAD
rs1399554991	p.Ala11Ser	missense variant	-	NC_000007.14:g.27110610C>A	gnomAD
rs1337485368	p.Ala11Val	missense variant	-	NC_000007.14:g.27110609G>A	TOPMed,gnomAD
rs1337485368	p.Ala11Glu	missense variant	-	NC_000007.14:g.27110609G>T	TOPMed,gnomAD
rs1020789194	p.Ile12Phe	missense variant	-	NC_000007.14:g.27110607T>A	TOPMed
rs765445228	p.Gly14Ser	missense variant	-	NC_000007.14:g.27110601C>T	gnomAD
rs752084362	p.Gly15Ser	missense variant	-	NC_000007.14:g.27110598C>T	ExAC,gnomAD
rs763332746	p.Pro17Thr	missense variant	-	NC_000007.14:g.27110592G>T	ExAC,gnomAD
rs763332746	p.Pro17Ala	missense variant	-	NC_000007.14:g.27110592G>C	ExAC,gnomAD
rs1169731987	p.Ala20Val	missense variant	-	NC_000007.14:g.27110582G>A	TOPMed,gnomAD
rs765991905	p.Ala20Pro	missense variant	-	NC_000007.14:g.27110583C>G	ExAC,TOPMed,gnomAD
rs1236976167	p.Ala21Asp	missense variant	-	NC_000007.14:g.27110579G>T	gnomAD
rs1365636540	p.Asn22Ser	missense variant	-	NC_000007.14:g.27110576T>C	TOPMed
COSM3880397	p.Gly23Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27110574C>T	NCI-TCGA Cosmic
rs760117879	p.Gly23Arg	missense variant	-	NC_000007.14:g.27110574C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe24Leu	missense variant	-	NC_000007.14:g.27110569G>T	NCI-TCGA
rs1424321019	p.Ala25Ser	missense variant	-	NC_000007.14:g.27110568C>A	gnomAD
COSM4919488	p.Tyr26Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27110564T>C	NCI-TCGA Cosmic
rs771538813	p.Asn27Lys	missense variant	-	NC_000007.14:g.27110560A>C	ExAC,gnomAD
rs748131705	p.Asn29Ser	missense variant	-	NC_000007.14:g.27110555T>C	ExAC,gnomAD
rs774223850	p.Pro32Thr	missense variant	-	NC_000007.14:g.27110547G>T	ExAC,gnomAD
rs1376465603	p.Pro32Leu	missense variant	-	NC_000007.14:g.27110546G>A	TOPMed,gnomAD
rs1376465603	p.Pro32Arg	missense variant	-	NC_000007.14:g.27110546G>C	TOPMed,gnomAD
rs1454687111	p.Tyr33Asn	missense variant	-	NC_000007.14:g.27110544A>T	gnomAD
rs1448611789	p.Pro34Gln	missense variant	-	NC_000007.14:g.27110540G>T	TOPMed
rs749040963	p.Ala35Val	missense variant	-	NC_000007.14:g.27110537G>A	ExAC,gnomAD
rs746085776	p.Ala37Val	missense variant	-	NC_000007.14:g.27110531G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala38Gly	missense variant	-	NC_000007.14:g.27110528G>C	NCI-TCGA
NCI-TCGA novel	p.Ala38Thr	missense variant	-	NC_000007.14:g.27110529C>T	NCI-TCGA
rs1379341623	p.Ala38Ser	missense variant	-	NC_000007.14:g.27110529C>A	gnomAD
rs757393983	p.Ala41Gly	missense variant	-	NC_000007.14:g.27110519G>C	ExAC,gnomAD
rs1183641928	p.Ala41Thr	missense variant	-	NC_000007.14:g.27110520C>T	gnomAD
rs758695156	p.Asp42Glu	missense variant	-	NC_000007.14:g.27110515G>T	ExAC,TOPMed,gnomAD
rs764656757	p.Asp42Tyr	missense variant	-	NC_000007.14:g.27110517C>A	ExAC,gnomAD
rs764656757	p.Asp42Asn	missense variant	-	NC_000007.14:g.27110517C>T	UniProt,dbSNP
VAR_036264	p.Asp42Asn	missense variant	-	NC_000007.14:g.27110517C>T	UniProt
rs764656757	p.Asp42Asn	missense variant	-	NC_000007.14:g.27110517C>T	ExAC,gnomAD
COSM1568451	p.Gly43Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27110513C>T	NCI-TCGA Cosmic
rs146381041	p.Gly43Ser	missense variant	-	NC_000007.14:g.27110514C>T	ESP,ExAC,gnomAD
rs905445520	p.Glu44Lys	missense variant	-	NC_000007.14:g.27110511C>T	TOPMed,gnomAD
rs905445520	p.Glu44Gln	missense variant	-	NC_000007.14:g.27110511C>G	TOPMed,gnomAD
rs373369365	p.His46Gln	missense variant	-	NC_000007.14:g.27110503G>T	ESP,ExAC,gnomAD
rs1353222884	p.His46Arg	missense variant	-	NC_000007.14:g.27110504T>C	gnomAD
rs760414819	p.Arg47Gln	missense variant	-	NC_000007.14:g.27110501C>T	ExAC,gnomAD
rs1248247321	p.Arg47Ter	stop gained	-	NC_000007.14:g.27110502G>A	gnomAD
rs1157184308	p.Pro48Thr	missense variant	-	NC_000007.14:g.27110499G>T	TOPMed
rs750054841	p.Pro48Leu	missense variant	-	NC_000007.14:g.27110498G>A	ExAC,gnomAD
rs761272954	p.Ala49Val	missense variant	-	NC_000007.14:g.27110495G>A	ExAC,TOPMed
rs1362603166	p.Ala49Thr	missense variant	-	NC_000007.14:g.27110496C>T	gnomAD
rs1290374206	p.Leu52Phe	missense variant	-	NC_000007.14:g.27110487G>A	gnomAD
rs774271981	p.Pro55Leu	missense variant	-	NC_000007.14:g.27110477G>A	ExAC,gnomAD
rs1010368098	p.Pro55Ser	missense variant	-	NC_000007.14:g.27110478G>A	gnomAD
NCI-TCGA novel	p.Ser57Arg	missense variant	-	NC_000007.14:g.27110470G>T	NCI-TCGA
rs762783980	p.Ser57Thr	missense variant	-	NC_000007.14:g.27110471C>G	ExAC,gnomAD
rs78276647	p.Ala58Thr	missense variant	-	NC_000007.14:g.27110469C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769448301	p.Ala58Val	missense variant	-	NC_000007.14:g.27110468G>A	ExAC,gnomAD
rs78276647	p.Ala58Ser	missense variant	-	NC_000007.14:g.27110469C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746145258	p.Gly59Arg	missense variant	-	NC_000007.14:g.27110466C>G	ExAC,TOPMed,gnomAD
rs746145258	p.Gly59Arg	missense variant	-	NC_000007.14:g.27110466C>T	ExAC,TOPMed,gnomAD
rs781519766	p.Gly60Ser	missense variant	-	NC_000007.14:g.27110463C>T	ExAC,gnomAD
rs781519766	p.Gly60Cys	missense variant	-	NC_000007.14:g.27110463C>A	ExAC,gnomAD
rs1357576963	p.Gly60Asp	missense variant	-	NC_000007.14:g.27110462C>T	gnomAD
rs1264893550	p.His61Tyr	missense variant	-	NC_000007.14:g.27110460G>A	gnomAD
NCI-TCGA novel	p.Pro62Leu	missense variant	-	NC_000007.14:g.27110456G>A	NCI-TCGA
rs1215827508	p.Lys63Asn	missense variant	-	NC_000007.14:g.27110452C>G	TOPMed,gnomAD
rs1307976324	p.Ala64Thr	missense variant	-	NC_000007.14:g.27110451C>T	gnomAD
rs1297705629	p.Glu66Lys	missense variant	-	NC_000007.14:g.27110445C>T	gnomAD
rs747018825	p.Leu67Pro	missense variant	-	NC_000007.14:g.27110441A>G	ExAC,gnomAD
rs1406341406	p.Ser68Asn	missense variant	-	NC_000007.14:g.27110438C>T	gnomAD
rs1303548549	p.Ser68Cys	missense variant	-	NC_000007.14:g.27110439T>A	gnomAD
rs753110975	p.Cys71Trp	missense variant	-	NC_000007.14:g.27110428G>C	ExAC,TOPMed,gnomAD
rs759004454	p.Cys71Ser	missense variant	-	NC_000007.14:g.27110429C>G	ExAC,TOPMed,gnomAD
rs779382325	p.Arg73Cys	missense variant	-	NC_000007.14:g.27110424G>A	ExAC,gnomAD
rs1202077053	p.Arg73His	missense variant	-	NC_000007.14:g.27110423C>T	gnomAD
rs755285275	p.Leu75Val	missense variant	-	NC_000007.14:g.27110418G>C	ExAC,gnomAD
rs750106752	p.Ala77Val	missense variant	-	NC_000007.14:g.27110411G>A	ExAC,gnomAD
rs1196439232	p.Ala77Thr	missense variant	-	NC_000007.14:g.27110412C>T	gnomAD
rs900192762	p.Pro78Thr	missense variant	-	NC_000007.14:g.27110409G>T	TOPMed,gnomAD
rs761322128	p.Pro79Ala	missense variant	-	NC_000007.14:g.27110406G>C	ExAC,gnomAD
rs761322128	p.Pro79Ser	missense variant	-	NC_000007.14:g.27110406G>A	ExAC,gnomAD
rs1467089174	p.Pro79Arg	missense variant	-	NC_000007.14:g.27110405G>C	TOPMed
rs1214970882	p.Ser80Gly	missense variant	-	NC_000007.14:g.27110403T>C	TOPMed
rs1357808537	p.Pro82Leu	missense variant	-	NC_000007.14:g.27110396G>A	gnomAD
rs763505092	p.Pro83Ala	missense variant	-	NC_000007.14:g.27110394G>C	ExAC,gnomAD
rs762990429	p.Ser84Arg	missense variant	-	NC_000007.14:g.27110389G>C	ExAC,TOPMed,gnomAD
rs775268517	p.Glu87Lys	missense variant	-	NC_000007.14:g.27110382C>T	ExAC,gnomAD
rs563924162	p.Glu87Gly	missense variant	-	NC_000007.14:g.27110381T>C	1000Genomes,gnomAD
rs1038708524	p.Pro88Arg	missense variant	-	NC_000007.14:g.27110378G>C	TOPMed,gnomAD
rs1038708524	p.Pro88Gln	missense variant	-	NC_000007.14:g.27110378G>T	TOPMed,gnomAD
rs769654378	p.Leu90Met	missense variant	-	NC_000007.14:g.27110373G>T	ExAC,TOPMed,gnomAD
rs1477274540	p.His91Pro	missense variant	-	NC_000007.14:g.27110369T>G	gnomAD
rs1377277486	p.His91Gln	missense variant	-	NC_000007.14:g.27110368G>T	gnomAD
rs1439787224	p.Pro92Leu	missense variant	-	NC_000007.14:g.27110366G>A	gnomAD
rs1182712985	p.Pro92Ser	missense variant	-	NC_000007.14:g.27110367G>A	gnomAD
rs1182712985	p.Pro92Thr	missense variant	-	NC_000007.14:g.27110367G>T	gnomAD
rs200842771	p.Pro94Leu	missense variant	-	NC_000007.14:g.27110360G>A	1000Genomes,ExAC,gnomAD
rs777001617	p.Pro95Ala	missense variant	-	NC_000007.14:g.27110358G>C	ExAC,TOPMed,gnomAD
rs1457237532	p.Pro95Leu	missense variant	-	NC_000007.14:g.27110357G>A	gnomAD
rs1399706028	p.Gln96Pro	missense variant	-	NC_000007.14:g.27110354T>G	TOPMed
rs1331206506	p.Ala98Val	missense variant	-	NC_000007.14:g.27110348G>A	TOPMed
rs1274034380	p.Pro99Ser	missense variant	-	NC_000007.14:g.27110346G>A	gnomAD
rs1337294972	p.Pro99Leu	missense variant	-	NC_000007.14:g.27110345G>A	TOPMed
NCI-TCGA novel	p.Pro100Ser	missense variant	-	NC_000007.14:g.27110343G>A	NCI-TCGA
rs1283416319	p.Ala101Thr	missense variant	-	NC_000007.14:g.27110340C>T	TOPMed
rs1273239422	p.Pro104Gln	missense variant	-	NC_000007.14:g.27110330G>T	TOPMed
rs1316838520	p.Gln106Arg	missense variant	-	NC_000007.14:g.27110324T>C	TOPMed
rs1306411661	p.Pro107His	missense variant	-	NC_000007.14:g.27110321G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala108Glu	missense variant	-	NC_000007.14:g.27110318G>T	NCI-TCGA
rs1187228858	p.Ala108Ser	missense variant	-	NC_000007.14:g.27110319C>A	TOPMed
rs1445457290	p.Pro109Thr	missense variant	-	NC_000007.14:g.27110316G>T	gnomAD
rs747224903	p.Pro109Leu	missense variant	-	NC_000007.14:g.27110315G>A	ExAC,gnomAD
rs777978952	p.Pro111Arg	missense variant	-	NC_000007.14:g.27110309G>C	ExAC,TOPMed,gnomAD
rs777978952	p.Pro111Leu	missense variant	-	NC_000007.14:g.27110309G>A	ExAC,TOPMed,gnomAD
rs1255870498	p.Pro111Ala	missense variant	-	NC_000007.14:g.27110310G>C	TOPMed
rs1423004393	p.Ala113Thr	missense variant	-	NC_000007.14:g.27110304C>T	TOPMed
rs976697190	p.Pro114Leu	missense variant	-	NC_000007.14:g.27110300G>A	TOPMed,gnomAD
rs1159528797	p.Pro114Ser	missense variant	-	NC_000007.14:g.27110301G>A	gnomAD
rs530713477	p.Thr115Pro	missense variant	-	NC_000007.14:g.27110298T>G	1000Genomes,gnomAD
rs748707785	p.Pro116Ala	missense variant	-	NC_000007.14:g.27110295G>C	ExAC,gnomAD
rs1445374925	p.Ala117Val	missense variant	-	NC_000007.14:g.27110291G>A	gnomAD
COSM3923436	p.Ala118Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27110289C>T	NCI-TCGA Cosmic
rs1212072086	p.Ala118Val	missense variant	-	NC_000007.14:g.27110288G>A	gnomAD
rs1212072086	p.Ala118Gly	missense variant	-	NC_000007.14:g.27110288G>C	gnomAD
rs1440644090	p.Pro119Ser	missense variant	-	NC_000007.14:g.27110286G>A	gnomAD
NCI-TCGA novel	p.Pro120ArgPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27110282G>-	NCI-TCGA
rs1205537984	p.Pro120Arg	missense variant	-	NC_000007.14:g.27110282G>C	TOPMed,gnomAD
rs1333238267	p.Pro120Ser	missense variant	-	NC_000007.14:g.27110283G>A	TOPMed
rs1205537984	p.Pro120Leu	missense variant	-	NC_000007.14:g.27110282G>A	TOPMed,gnomAD
rs780382886	p.Pro121Ser	missense variant	-	NC_000007.14:g.27110280G>A	ExAC,gnomAD
rs751139252	p.Pro122Ala	missense variant	-	NC_000007.14:g.27110277G>C	ExAC,gnomAD
rs751139252	p.Pro122Ser	missense variant	-	NC_000007.14:g.27110277G>A	ExAC,gnomAD
rs757799583	p.Ser126Phe	missense variant	-	NC_000007.14:g.27110264G>A	ExAC,gnomAD
rs1340431719	p.Pro127Ala	missense variant	-	NC_000007.14:g.27110262G>C	gnomAD
rs141597317	p.Pro128Ser	missense variant	-	NC_000007.14:g.27110259G>A	ESP,ExAC,TOPMed,gnomAD
rs765017652	p.Pro128Leu	missense variant	-	NC_000007.14:g.27110258G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln129Glu	missense variant	-	NC_000007.14:g.27110256G>C	NCI-TCGA
NCI-TCGA novel	p.Gln129Lys	missense variant	-	NC_000007.14:g.27110256G>T	NCI-TCGA
rs759421760	p.Gln129Pro	missense variant	-	NC_000007.14:g.27110255T>G	ExAC
VAR_036265	p.Ala131Thr	Missense	-	-	UniProt
NCI-TCGA novel	p.Ser132Ile	missense variant	-	NC_000007.14:g.27110246C>A	NCI-TCGA
rs1020839960	p.Ser132Gly	missense variant	-	NC_000007.14:g.27110247T>C	TOPMed
rs987965306	p.Asn133Lys	missense variant	-	NC_000007.14:g.27110242G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro135GlnPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27110237_27110238insTCCAGAGGGACTCCCAGCAGGTCTCT	NCI-TCGA
rs148350002	p.Pro135Ser	missense variant	-	NC_000007.14:g.27110238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148350002	p.Pro135Ala	missense variant	-	NC_000007.14:g.27110238G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148350002	p.Pro135Thr	missense variant	-	NC_000007.14:g.27110238G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761025094	p.Pro135Leu	missense variant	-	NC_000007.14:g.27110237G>A	ExAC,gnomAD
rs748105640	p.Ala138Val	missense variant	-	NC_000007.14:g.27110228G>A	ExAC,gnomAD
rs772220854	p.Ala138Pro	missense variant	-	NC_000007.14:g.27110229C>G	ExAC,gnomAD
rs769208429	p.Ala140Val	missense variant	-	NC_000007.14:g.27110222G>A	ExAC,gnomAD
rs769208429	p.Ala140Glu	missense variant	-	NC_000007.14:g.27110222G>T	ExAC,gnomAD
rs1235437557	p.Ser143Arg	missense variant	-	NC_000007.14:g.27110212G>C	TOPMed,gnomAD
rs375062129	p.Pro144Ser	missense variant	-	NC_000007.14:g.27110211G>A	ExAC,gnomAD
rs756450304	p.Pro144Arg	missense variant	-	NC_000007.14:g.27110210G>C	ExAC,TOPMed,gnomAD
rs756450304	p.Pro144His	missense variant	-	NC_000007.14:g.27110210G>T	ExAC,TOPMed,gnomAD
rs756450304	p.Pro144Leu	missense variant	-	NC_000007.14:g.27110210G>A	ExAC,TOPMed,gnomAD
rs753346052	p.Leu145ProPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27110207_27110208insG	NCI-TCGA
rs1226155884	p.Leu146Phe	missense variant	-	NC_000007.14:g.27110205G>A	gnomAD
rs1226155884	p.Leu146Ile	missense variant	-	NC_000007.14:g.27110205G>T	gnomAD
rs757931038	p.Ser148Leu	missense variant	-	NC_000007.14:g.27110198G>A	ExAC,gnomAD
rs777252489	p.Ser148Ala	missense variant	-	NC_000007.14:g.27110199A>C	ExAC,gnomAD
rs1338817885	p.Pro149Ser	missense variant	-	NC_000007.14:g.27110196G>A	TOPMed,gnomAD
rs1338817885	p.Pro149Ala	missense variant	-	NC_000007.14:g.27110196G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val151Met	missense variant	-	NC_000007.14:g.27110190C>T	NCI-TCGA
rs1297990052	p.Val151Gly	missense variant	-	NC_000007.14:g.27110189A>C	gnomAD
rs764830639	p.Ala152Asp	missense variant	-	NC_000007.14:g.27110186G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln154Pro	missense variant	-	NC_000007.14:g.27110180T>G	NCI-TCGA
rs753798091	p.Gln154Lys	missense variant	-	NC_000007.14:g.27110181G>T	ExAC,gnomAD
rs753798091	p.Gln154Glu	missense variant	-	NC_000007.14:g.27110181G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile155Leu	missense variant	-	NC_000007.14:g.27110178T>G	NCI-TCGA
NCI-TCGA novel	p.Trp158Arg	missense variant	-	NC_000007.14:g.27110169A>G	NCI-TCGA
NCI-TCGA novel	p.Lys160Asn	missense variant	-	NC_000007.14:g.27110161T>A	NCI-TCGA
NCI-TCGA novel	p.Glu161Lys	missense variant	-	NC_000007.14:g.27110160C>T	NCI-TCGA
NCI-TCGA novel	p.Ser162Phe	missense variant	-	NC_000007.14:g.27110156G>A	NCI-TCGA
NCI-TCGA novel	p.Arg163Gln	missense variant	-	NC_000007.14:g.27110153C>T	NCI-TCGA
NCI-TCGA novel	p.Arg163Ter	stop gained	-	NC_000007.14:g.27110154G>A	NCI-TCGA
rs1313262966	p.Gln164Lys	missense variant	-	NC_000007.14:g.27110151G>T	TOPMed
NCI-TCGA novel	p.Lys167Asn	missense variant	-	NC_000007.14:g.27110140C>A	NCI-TCGA
rs760344417	p.Lys167Arg	missense variant	-	NC_000007.14:g.27110141T>C	ExAC
rs773484720	p.Thr170Ala	missense variant	-	NC_000007.14:g.27110133T>C	ExAC,gnomAD
rs767573569	p.Ser173Phe	missense variant	-	NC_000007.14:g.27110123G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly176Cys	missense variant	-	NC_000007.14:g.27110115C>A	NCI-TCGA
rs764182354	p.Glu177Lys	missense variant	-	NC_000007.14:g.27108718C>T	ExAC
rs762981763	p.Ser178Arg	missense variant	-	NC_000007.14:g.27108713G>C	ExAC,gnomAD
COSM6177252	p.Cys179Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27108710G>T	NCI-TCGA Cosmic
rs561303614	p.Cys179Gly	missense variant	-	NC_000007.14:g.27108712A>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala180Asp	missense variant	-	NC_000007.14:g.27108708G>T	NCI-TCGA
rs541660334	p.Gly181Cys	missense variant	-	NC_000007.14:g.27108706C>A	1000Genomes,ExAC,gnomAD
rs1314381838	p.Asp182His	missense variant	-	NC_000007.14:g.27108703C>G	TOPMed,gnomAD
rs1314381838	p.Asp182Tyr	missense variant	-	NC_000007.14:g.27108703C>A	TOPMed,gnomAD
rs201202337	p.Lys183Asn	missense variant	-	NC_000007.14:g.27108698C>G	TOPMed,gnomAD
rs760079612	p.Lys183Arg	missense variant	-	NC_000007.14:g.27108699T>C	ExAC,TOPMed,gnomAD
rs776931367	p.Ser184Asn	missense variant	-	NC_000007.14:g.27108696C>T	ExAC,gnomAD
rs909441206	p.Pro185Gln	missense variant	-	NC_000007.14:g.27108693G>T	gnomAD
rs909441206	p.Pro185Leu	missense variant	-	NC_000007.14:g.27108693G>A	gnomAD
NCI-TCGA novel	p.Pro186Ser	missense variant	-	NC_000007.14:g.27108691G>A	NCI-TCGA
rs778666410	p.Gly187Glu	missense variant	-	NC_000007.14:g.27108687C>T	ExAC,TOPMed,gnomAD
rs747806694	p.Gly187Trp	missense variant	-	NC_000007.14:g.27108688C>A	ExAC,TOPMed,gnomAD
rs1470258466	p.Gln188His	missense variant	-	NC_000007.14:g.27108683C>G	gnomAD
rs374352147	p.Ala189Ser	missense variant	-	NC_000007.14:g.27108682C>A	ESP,ExAC,TOPMed,gnomAD
rs374352147	p.Ala189Pro	missense variant	-	NC_000007.14:g.27108682C>G	ESP,ExAC,TOPMed,gnomAD
COSM3637724	p.Ser190Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108678G>A	NCI-TCGA Cosmic
rs144351903	p.Ser190Trp	missense variant	-	NC_000007.14:g.27108678G>C	ESP,ExAC,TOPMed,gnomAD
rs1432196398	p.Ser191Phe	missense variant	-	NC_000007.14:g.27108675G>A	gnomAD
NCI-TCGA novel	p.Arg193Cys	missense variant	-	NC_000007.14:g.27108670G>A	NCI-TCGA
rs1230280289	p.Arg193Ser	missense variant	-	NC_000007.14:g.27108670G>T	TOPMed
rs149479622	p.Ala194Val	missense variant	-	NC_000007.14:g.27108666G>A	ESP,ExAC,TOPMed,gnomAD
COSM3027140	p.Arg195Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108664G>A	NCI-TCGA Cosmic
COSM392338	p.Arg195HisPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27108662_27108663GC>-	NCI-TCGA Cosmic
rs1347019202	p.Thr196Met	missense variant	-	NC_000007.14:g.27108660G>A	TOPMed
COSM4941105	p.Tyr198Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108654T>C	NCI-TCGA Cosmic
rs751813350	p.Thr199Ala	missense variant	-	NC_000007.14:g.27108652T>C	ExAC,gnomAD
COSM1088853	p.Ala201Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108645G>A	NCI-TCGA Cosmic
COSM746318	p.Ala201Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108645G>C	NCI-TCGA Cosmic
COSM1088854	p.Ala201Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108646C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln202Ter	stop gained	-	NC_000007.14:g.27108643G>A	NCI-TCGA
NCI-TCGA novel	p.Glu207Asp	missense variant	-	NC_000007.14:g.27108626C>A	NCI-TCGA
rs765359429	p.Lys208Glu	missense variant	-	NC_000007.14:g.27108625T>C	ExAC,gnomAD
rs137977036	p.His211Arg	missense variant	-	NC_000007.14:g.27108615T>C	ESP,ExAC,TOPMed,gnomAD
rs137977036	p.His211Leu	missense variant	-	NC_000007.14:g.27108615T>A	ESP,ExAC,TOPMed,gnomAD
rs777176111	p.Asn213His	missense variant	-	NC_000007.14:g.27108610T>G	ExAC,TOPMed,gnomAD
rs1394900092	p.Arg214Ser	missense variant	-	NC_000007.14:g.27108607G>T	TOPMed
rs771224832	p.Arg218Trp	missense variant	-	NC_000007.14:g.27108595G>A	ExAC,gnomAD
rs1381290384	p.Pro219Gln	missense variant	-	NC_000007.14:g.27108591G>T	gnomAD
rs1381290384	p.Pro219Leu	missense variant	-	NC_000007.14:g.27108591G>A	gnomAD
rs1300835427	p.Arg221Gln	missense variant	-	NC_000007.14:g.27108585C>T	TOPMed,gnomAD
rs1300835427	p.Arg221Leu	missense variant	-	NC_000007.14:g.27108585C>A	TOPMed,gnomAD
rs774155973	p.Asn226Ser	missense variant	-	NC_000007.14:g.27108570T>C	ExAC,TOPMed,gnomAD
rs146963463	p.Asn226Asp	missense variant	-	NC_000007.14:g.27108571T>C	ESP,ExAC,TOPMed,gnomAD
rs1367593205	p.Asn229Lys	missense variant	-	NC_000007.14:g.27108560G>T	TOPMed
rs779749400	p.Leu230Phe	missense variant	-	NC_000007.14:g.27108559G>A	ExAC,gnomAD
rs779749400	p.Leu230Val	missense variant	-	NC_000007.14:g.27108559G>C	ExAC,gnomAD
rs1254744638	p.Arg233His	missense variant	-	NC_000007.14:g.27108549C>T	gnomAD
NCI-TCGA novel	p.Gln234His	missense variant	-	NC_000007.14:g.27108545C>A	NCI-TCGA
rs745812862	p.Gln234His	missense variant	-	NC_000007.14:g.27108545C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys236Asn	missense variant	-	NC_000007.14:g.27108539C>A	NCI-TCGA
rs781146610	p.Lys236Arg	missense variant	-	NC_000007.14:g.27108540T>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp238Arg	missense variant	-	NC_000007.14:g.27108535A>T	NCI-TCGA
NCI-TCGA novel	p.Arg243Cys	missense variant	-	NC_000007.14:g.27108520G>A	NCI-TCGA
NCI-TCGA novel	p.Tyr246Ter	stop gained	-	NC_000007.14:g.27108509G>T	NCI-TCGA
rs1214652095	p.Lys248Asn	missense variant	-	NC_000007.14:g.27108503C>A	gnomAD
NCI-TCGA novel	p.Asp249Glu	missense variant	-	NC_000007.14:g.27108500A>T	NCI-TCGA
NCI-TCGA novel	p.Asp249Glu	missense variant	-	NC_000007.14:g.27108500A>C	NCI-TCGA
COSM3637722	p.Asp249Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108502C>T	NCI-TCGA Cosmic
rs1292541310	p.Asp249Val	missense variant	-	NC_000007.14:g.27108501T>A	TOPMed,gnomAD
rs757009297	p.Asp249Tyr	missense variant	-	NC_000007.14:g.27108502C>A	ExAC,TOPMed,gnomAD
rs1214401950	p.Lys251Arg	missense variant	-	NC_000007.14:g.27108495T>C	TOPMed
COSM3880394	p.Gly252Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108492C>T	NCI-TCGA Cosmic
rs777531613	p.Gly254Asp	missense variant	-	NC_000007.14:g.27108486C>T	ExAC,gnomAD
rs758689645	p.Met255Leu	missense variant	-	NC_000007.14:g.27108484T>G	ExAC,gnomAD
rs752889184	p.Leu256Pro	missense variant	-	NC_000007.14:g.27108480A>G	ExAC,TOPMed,gnomAD
COSM3923435	p.Thr257Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108478T>C	NCI-TCGA Cosmic
rs1397701408	p.Thr257Lys	missense variant	-	NC_000007.14:g.27108477G>T	TOPMed,gnomAD
rs1397701408	p.Thr257Arg	missense variant	-	NC_000007.14:g.27108477G>C	TOPMed,gnomAD
COSM3637721	p.Ser259Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108471G>A	NCI-TCGA Cosmic
rs545349305	p.Gly260Glu	missense variant	-	NC_000007.14:g.27108468C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761246075	p.Gly260Arg	missense variant	-	NC_000007.14:g.27108469C>G	ExAC,gnomAD
rs576449568	p.Gly261Val	missense variant	-	NC_000007.14:g.27108465C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1426166813	p.Gly261Cys	missense variant	-	NC_000007.14:g.27108466C>A	TOPMed,gnomAD
rs576449568	p.Gly261Asp	missense variant	-	NC_000007.14:g.27108465C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln262Ter	stop gained	-	NC_000007.14:g.27108463G>A	NCI-TCGA
NCI-TCGA novel	p.Gln262ProPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27108464_27108465insC	NCI-TCGA
COSM6177253	p.Gln262Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108463G>C	NCI-TCGA Cosmic
rs769217500	p.Ser263Ala	missense variant	-	NC_000007.14:g.27108460A>C	ExAC,gnomAD
rs1269933015	p.Ser265Thr	missense variant	-	NC_000007.14:g.27108453C>G	gnomAD
COSM3637720	p.Arg266Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108451G>A	NCI-TCGA Cosmic
rs745318781	p.Arg266His	missense variant	-	NC_000007.14:g.27108450C>T	ExAC,TOPMed,gnomAD
rs745318781	p.Arg266Leu	missense variant	-	NC_000007.14:g.27108450C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser267Asn	missense variant	-	NC_000007.14:g.27108447C>T	NCI-TCGA
NCI-TCGA novel	p.Val269Met	missense variant	-	NC_000007.14:g.27108442C>T	NCI-TCGA
rs201998676	p.Val269Leu	missense variant	-	NC_000007.14:g.27108442C>G	1000Genomes,ExAC,gnomAD
rs201998676	p.Val269Leu	missense variant	-	NC_000007.14:g.27108442C>A	1000Genomes,ExAC,gnomAD
rs777588656	p.Pro270Thr	missense variant	-	NC_000007.14:g.27108439G>T	ExAC,gnomAD
rs141075773	p.Pro270His	missense variant	-	NC_000007.14:g.27108438G>T	ExAC,TOPMed,gnomAD
rs141075773	p.Pro270Leu	missense variant	-	NC_000007.14:g.27108438G>A	ExAC,TOPMed,gnomAD
rs777588656	p.Pro270Ser	missense variant	-	NC_000007.14:g.27108439G>A	ExAC,gnomAD
rs779159425	p.Pro271Leu	missense variant	-	NC_000007.14:g.27108435G>A	ExAC,TOPMed,gnomAD
COSM4440121	p.Gly272GluPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27108434G>-	NCI-TCGA Cosmic
rs750383849	p.Gly272ArgPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27108433_27108434insG	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly274Ser	missense variant	-	NC_000007.14:g.27108427C>T	NCI-TCGA
rs1323878374	p.Gly274Cys	missense variant	-	NC_000007.14:g.27108427C>A	TOPMed,gnomAD
rs138670627	p.Gly275Asp	missense variant	-	NC_000007.14:g.27108423C>T	ESP,ExAC,TOPMed,gnomAD
rs1333146981	p.Tyr276Ser	missense variant	-	NC_000007.14:g.27108420T>G	TOPMed
COSM746320	p.Met280Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108409T>A	NCI-TCGA Cosmic
rs750944445	p.Met280Lys	missense variant	-	NC_000007.14:g.27108408A>T	ExAC,gnomAD
rs375321122	p.Met280Val	missense variant	-	NC_000007.14:g.27108409T>C	ESP,ExAC,TOPMed,gnomAD
rs1435463651	p.His281Pro	missense variant	-	NC_000007.14:g.27108405T>G	gnomAD
rs1477733468	p.Leu283Pro	missense variant	-	NC_000007.14:g.27108399A>G	TOPMed,gnomAD
rs762227101	p.Asn285Ser	missense variant	-	NC_000007.14:g.27108393T>C	ExAC,gnomAD
NCI-TCGA novel	p.Val287Ile	missense variant	-	NC_000007.14:g.27108388C>T	NCI-TCGA
NCI-TCGA novel	p.Pro288Ter	frameshift	-	NC_000007.14:g.27108382_27108386ACGGG>-	NCI-TCGA
NCI-TCGA novel	p.Pro288Ser	missense variant	-	NC_000007.14:g.27108385G>A	NCI-TCGA
rs1208826265	p.Pro288Leu	missense variant	-	NC_000007.14:g.27108384G>A	TOPMed
COSM3778352	p.Glu290Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108379C>T	NCI-TCGA Cosmic
rs1272072937	p.Glu290Gln	missense variant	-	NC_000007.14:g.27108379C>G	TOPMed
rs1266704911	p.Glu290Gly	missense variant	-	NC_000007.14:g.27108378T>C	gnomAD
NCI-TCGA novel	p.Gln292Lys	missense variant	-	NC_000007.14:g.27108373G>T	NCI-TCGA
rs759097377	p.Gln292Arg	missense variant	-	NC_000007.14:g.27108372T>C	ExAC,gnomAD
rs759097377	p.Gln292Pro	missense variant	-	NC_000007.14:g.27108372T>G	ExAC,gnomAD
COSM4511735	p.Ser293Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108369G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro295ArgPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27108363G>-	NCI-TCGA
rs1247697345	p.Pro295Leu	missense variant	-	NC_000007.14:g.27108363G>A	TOPMed
rs1470068161	p.Phe297Ser	missense variant	-	NC_000007.14:g.27108357A>G	TOPMed
rs1234899381	p.Lys299Arg	missense variant	-	NC_000007.14:g.27108351T>C	gnomAD
rs150165110	p.Pro300His	missense variant	-	NC_000007.14:g.27108348G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373966754	p.Pro300Thr	missense variant	-	NC_000007.14:g.27108349G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373966754	p.Pro300Ser	missense variant	-	NC_000007.14:g.27108349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150165110	p.Pro300Arg	missense variant	-	NC_000007.14:g.27108348G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150165110	p.Pro300Leu	missense variant	-	NC_000007.14:g.27108348G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200545147	p.Pro301Leu	missense variant	-	NC_000007.14:g.27108345G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln302ThrPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27108343_27108344insT	NCI-TCGA
NCI-TCGA novel	p.Gln302ArgPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27108343G>-	NCI-TCGA
rs1407346769	p.Gly303Ser	missense variant	-	NC_000007.14:g.27108340C>T	TOPMed
rs565794030	p.Thr304Pro	missense variant	-	NC_000007.14:g.27108337T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs750997164	p.Thr304Asn	missense variant	-	NC_000007.14:g.27108336G>T	ExAC,TOPMed,gnomAD
rs565794030	p.Thr304Ala	missense variant	-	NC_000007.14:g.27108337T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs750997164	p.Thr304Ser	missense variant	-	NC_000007.14:g.27108336G>C	ExAC,TOPMed,gnomAD
rs1464701249	p.Tyr305Cys	missense variant	-	NC_000007.14:g.27108333T>C	gnomAD
rs781736448	p.Pro308Leu	missense variant	-	NC_000007.14:g.27108324G>A	ExAC,TOPMed,gnomAD
rs1441693252	p.Pro308Ser	missense variant	-	NC_000007.14:g.27108325G>A	gnomAD
NCI-TCGA novel	p.Ala310ProPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27108320G>-	NCI-TCGA
COSM3027105	p.Ala310ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27108319_27108320insG	NCI-TCGA Cosmic
rs1306048165	p.Ala310Val	missense variant	-	NC_000007.14:g.27108318G>A	TOPMed
rs552448449	p.Ala310Thr	missense variant	-	NC_000007.14:g.27108319C>T	1000Genomes,ExAC
rs1437186333	p.Tyr312Cys	missense variant	-	NC_000007.14:g.27108312T>C	gnomAD
rs1279020607	p.Pro313Thr	missense variant	-	NC_000007.14:g.27108310G>T	TOPMed,gnomAD
rs764361714	p.Pro313Leu	missense variant	-	NC_000007.14:g.27108309G>A	ExAC,gnomAD
rs759274828	p.Ala314Gly	missense variant	-	NC_000007.14:g.27108306G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser318ArgPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27108269_27108293CTGTGGGGGTGGCGGGGGTGCGCAG>-	NCI-TCGA
NCI-TCGA novel	p.Cys319Ter	stop gained	-	NC_000007.14:g.27108290G>T	NCI-TCGA
COSM3637719	p.Cys319Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108292A>T	NCI-TCGA Cosmic
rs1292187242	p.Ala320Thr	missense variant	-	NC_000007.14:g.27108289C>T	TOPMed
rs979280899	p.Pro321Ser	missense variant	-	NC_000007.14:g.27108286G>A	TOPMed
rs201711921	p.Pro322Leu	missense variant	-	NC_000007.14:g.27108282G>A	1000Genomes,TOPMed
rs1378393036	p.Pro322Ser	missense variant	-	NC_000007.14:g.27108283G>A	gnomAD
rs201711921	p.Pro322Arg	missense variant	-	NC_000007.14:g.27108282G>C	1000Genomes,TOPMed
rs1306476864	p.Pro324Ser	missense variant	-	NC_000007.14:g.27108277G>A	gnomAD
rs753413571	p.Pro325Thr	missense variant	-	NC_000007.14:g.27108274G>T	ExAC,TOPMed,gnomAD
rs1203455918	p.Gln326Arg	missense variant	-	NC_000007.14:g.27108270T>C	TOPMed
rs1336528766	p.Arg328Gly	missense variant	-	NC_000007.14:g.27108265G>C	TOPMed,gnomAD
rs1336528766	p.Arg328Cys	missense variant	-	NC_000007.14:g.27108265G>A	TOPMed,gnomAD
rs760140639	p.Thr330Lys	missense variant	-	NC_000007.14:g.27108258G>T	ExAC,gnomAD
rs1483679216	p.Thr330Ala	missense variant	-	NC_000007.14:g.27108259T>C	TOPMed
rs772052156	p.Ala331Thr	missense variant	-	NC_000007.14:g.27108256C>T	ExAC,TOPMed,gnomAD
rs1421765421	p.Ala331Glu	missense variant	-	NC_000007.14:g.27108255G>T	gnomAD
rs1023423585	p.Ala332Ser	missense variant	-	NC_000007.14:g.27108253C>A	TOPMed
rs1366839347	p.Gly333Arg	missense variant	-	NC_000007.14:g.27108250C>T	TOPMed
rs1158154489	p.Gly333Glu	missense variant	-	NC_000007.14:g.27108249C>T	gnomAD
rs1014177801	p.Gly337Arg	missense variant	-	NC_000007.14:g.27108238C>T	TOPMed,gnomAD
rs774237769	p.Gly338Cys	missense variant	-	NC_000007.14:g.27108235C>A	ExAC,gnomAD
rs768312265	p.Gly338Val	missense variant	-	NC_000007.14:g.27108234C>A	ExAC,TOPMed,gnomAD
rs768312265	p.Gly338Asp	missense variant	-	NC_000007.14:g.27108234C>T	ExAC,TOPMed,gnomAD
rs768312265	p.Gly338Ala	missense variant	-	NC_000007.14:g.27108234C>G	ExAC,TOPMed,gnomAD
rs749547060	p.Thr339Asn	missense variant	-	NC_000007.14:g.27108231G>T	ExAC,gnomAD
rs749547060	p.Thr339Ile	missense variant	-	NC_000007.14:g.27108231G>A	ExAC,gnomAD
rs780381363	p.Pro340Arg	missense variant	-	NC_000007.14:g.27108228G>C	ExAC,gnomAD
rs1311738836	p.Pro340Ala	missense variant	-	NC_000007.14:g.27108229G>C	TOPMed
NCI-TCGA novel	p.Pro344ArgPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27108216G>-	NCI-TCGA
NCI-TCGA novel	p.Pro344Gln	missense variant	-	NC_000007.14:g.27108216G>T	NCI-TCGA
rs1217825036	p.Pro344Leu	missense variant	-	NC_000007.14:g.27108216G>A	TOPMed,gnomAD
rs570052000	p.His345Tyr	missense variant	-	NC_000007.14:g.27108214G>A	1000Genomes
rs1001112419	p.His345Gln	missense variant	-	NC_000007.14:g.27108212G>C	TOPMed,gnomAD
rs1001112419	p.His345Gln	missense variant	-	NC_000007.14:g.27108212G>T	TOPMed,gnomAD
COSM1088849	p.Ala346Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108211C>T	NCI-TCGA Cosmic
rs1286530524	p.Ala346Ser	missense variant	-	NC_000007.14:g.27108211C>A	gnomAD
NCI-TCGA novel	p.His347Asn	missense variant	-	NC_000007.14:g.27108208G>T	NCI-TCGA
rs1299213518	p.His347Gln	missense variant	-	NC_000007.14:g.27108206A>C	gnomAD
rs757849445	p.His347Arg	missense variant	-	NC_000007.14:g.27108207T>C	ExAC,gnomAD
rs781409624	p.His347Tyr	missense variant	-	NC_000007.14:g.27108208G>A	ExAC,TOPMed,gnomAD
rs1402034451	p.Gly348Ser	missense variant	-	NC_000007.14:g.27108205C>T	gnomAD
rs778253017	p.Leu349Arg	missense variant	-	NC_000007.14:g.27108201A>C	ExAC,gnomAD
rs1414443311	p.Gly351Val	missense variant	-	NC_000007.14:g.27108195C>A	gnomAD
rs1164859943	p.Asn352Lys	missense variant	-	NC_000007.14:g.27108191G>T	gnomAD
rs867211343	p.Gly353Ser	missense variant	-	NC_000007.14:g.27108190C>T	TOPMed
rs530214829	p.Tyr355Cys	missense variant	-	NC_000007.14:g.27108183T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Thr357Ser	missense variant	-	NC_000007.14:g.27108177G>C	NCI-TCGA
NCI-TCGA novel	p.Thr357Asn	missense variant	-	NC_000007.14:g.27108177G>T	NCI-TCGA
rs886301075	p.His359Asp	missense variant	-	NC_000007.14:g.27108172G>C	TOPMed
rs749999775	p.Ile360Thr	missense variant	-	NC_000007.14:g.27108168A>G	ExAC,gnomAD
rs1214448909	p.Ile360Met	missense variant	-	NC_000007.14:g.27108167T>C	gnomAD
rs1254158602	p.Ile360Val	missense variant	-	NC_000007.14:g.27108169T>C	TOPMed
rs1444149365	p.Gln361Glu	missense variant	-	NC_000007.14:g.27108166G>C	TOPMed
rs200453383	p.Gly362Glu	missense variant	-	NC_000007.14:g.27108162C>T	1000Genomes,ExAC
rs1188340147	p.Gly362Arg	missense variant	-	NC_000007.14:g.27108163C>T	TOPMed
rs763980001	p.Pro364Ala	missense variant	-	NC_000007.14:g.27108157G>C	ExAC,TOPMed,gnomAD
rs775867530	p.Val365Ile	missense variant	-	NC_000007.14:g.27108154C>T	ExAC,TOPMed,gnomAD
rs775867530	p.Val365Phe	missense variant	-	NC_000007.14:g.27108154C>A	ExAC,TOPMed,gnomAD
COSM3880392	p.Val367Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108148C>T	NCI-TCGA Cosmic
rs1430317144	p.Val367Leu	missense variant	-	NC_000007.14:g.27108148C>A	TOPMed
rs747577258	p.Gly368Ala	missense variant	-	NC_000007.14:g.27108144C>G	ExAC,TOPMed,gnomAD
rs770893814	p.Gly368Trp	missense variant	-	NC_000007.14:g.27108145C>A	ExAC,gnomAD
rs1300699662	p.Gly369Cys	missense variant	-	NC_000007.14:g.27108142C>A	gnomAD
rs1038727391	p.Gly369Asp	missense variant	-	NC_000007.14:g.27108141C>T	TOPMed
rs778107219	p.Pro374Ser	missense variant	-	NC_000007.14:g.27108127G>A	ExAC,TOPMed,gnomAD
rs748456888	p.Met375Leu	missense variant	-	NC_000007.14:g.27108124T>G	ExAC,gnomAD
rs111910536	p.Met375Thr	missense variant	-	NC_000007.14:g.27108123A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748456888	p.Met375Val	missense variant	-	NC_000007.14:g.27108124T>C	ExAC,gnomAD
rs148881843	p.Ser376Asn	missense variant	-	NC_000007.14:g.27108120C>T	ESP,ExAC,TOPMed,gnomAD
rs370472758	p.Asn377Ser	missense variant	-	NC_000007.14:g.27108117T>C	ESP,ExAC,TOPMed,gnomAD
rs1254705443	p.Gly379Ala	missense variant	-	NC_000007.14:g.27108111C>G	TOPMed
COSM6109644	p.Pro380Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108108G>T	NCI-TCGA Cosmic
rs763878865	p.Pro380Ala	missense variant	-	NC_000007.14:g.27108109G>C	ExAC,TOPMed,gnomAD
rs1218691568	p.Pro380Leu	missense variant	-	NC_000007.14:g.27108108G>A	gnomAD
rs762935434	p.Leu382Ile	missense variant	-	NC_000007.14:g.27108103G>T	ExAC,TOPMed,gnomAD
rs1200920348	p.Gly384Asp	missense variant	-	NC_000007.14:g.27108096C>T	TOPMed,gnomAD
rs775493554	p.His387Asn	missense variant	-	NC_000007.14:g.27108088G>T	ExAC,gnomAD
rs759888198	p.Leu388Val	missense variant	-	NC_000007.14:g.27108085G>C	ExAC,gnomAD
rs771076275	p.Pro389Arg	missense variant	-	NC_000007.14:g.27108081G>C	ExAC,TOPMed,gnomAD
rs776948256	p.Pro389Ser	missense variant	-	NC_000007.14:g.27108082G>A	ExAC,gnomAD
rs771076275	p.Pro389Leu	missense variant	-	NC_000007.14:g.27108081G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His390ThrPheSerTerUnkUnkUnk	frameshift	-	NC_000007.14:g.27108079G>-	NCI-TCGA
NCI-TCGA novel	p.His390ProPheSerTerUnkUnkUnk	frameshift	-	NC_000007.14:g.27108078_27108079insG	NCI-TCGA
rs746997972	p.His390Asp	missense variant	-	NC_000007.14:g.27108079G>C	ExAC,gnomAD
rs746997972	p.His390Asn	missense variant	-	NC_000007.14:g.27108079G>T	ExAC,gnomAD
rs1370167466	p.His390Leu	missense variant	-	NC_000007.14:g.27108078T>A	gnomAD
rs773785595	p.Ser393Leu	missense variant	-	NC_000007.14:g.27108069G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly394Asp	missense variant	-	NC_000007.14:g.27108066C>T	NCI-TCGA
rs772517713	p.Gly394Val	missense variant	-	NC_000007.14:g.27108066C>A	ExAC,gnomAD
rs374297287	p.Ala395Thr	missense variant	-	NC_000007.14:g.27108064C>T	ESP,ExAC,TOPMed,gnomAD
rs374297287	p.Ala395Ser	missense variant	-	NC_000007.14:g.27108064C>A	ESP,ExAC,TOPMed,gnomAD
rs1188965898	p.Met396Arg	missense variant	-	NC_000007.14:g.27108060A>C	gnomAD
rs1426773608	p.Met396Val	missense variant	-	NC_000007.14:g.27108061T>C	gnomAD
rs1453199220	p.Tyr398His	missense variant	-	NC_000007.14:g.27108055A>G	TOPMed,gnomAD
rs1387362776	p.Tyr398Cys	missense variant	-	NC_000007.14:g.27108054T>C	TOPMed
rs1453199220	p.Tyr398Asn	missense variant	-	NC_000007.14:g.27108055A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly400ValPheSerTerUnkUnkUnk	frameshift	-	NC_000007.14:g.27108048C>-	NCI-TCGA
NCI-TCGA novel	p.Gly400Asp	missense variant	-	NC_000007.14:g.27108048C>T	NCI-TCGA
rs1322075599	p.Gly400Ala	missense variant	-	NC_000007.14:g.27108048C>G	TOPMed
rs1455307732	p.Gly400Ser	missense variant	-	NC_000007.14:g.27108049C>T	TOPMed
rs1238246500	p.Ala401Thr	missense variant	-	NC_000007.14:g.27108046C>T	gnomAD
rs1181118542	p.Ala401Val	missense variant	-	NC_000007.14:g.27108045G>A	gnomAD
rs1238246500	p.Ala401Ser	missense variant	-	NC_000007.14:g.27108046C>A	gnomAD
rs1436225656	p.Gly402Trp	missense variant	-	NC_000007.14:g.27108043C>A	TOPMed,gnomAD
rs745550334	p.Pro403Leu	missense variant	-	NC_000007.14:g.27108039G>A	ExAC,TOPMed,gnomAD
rs763656046	p.Leu404Val	missense variant	-	NC_000007.14:g.27108037G>C	ExAC,gnomAD
rs1276689923	p.Gly405Asp	missense variant	-	NC_000007.14:g.27108033C>T	gnomAD
rs752660851	p.Ser406Gly	missense variant	-	NC_000007.14:g.27108031T>C	ExAC,gnomAD
rs1311531547	p.Gly407Ser	missense variant	-	NC_000007.14:g.27108028C>T	gnomAD
rs1045749988	p.Gly407Ala	missense variant	-	NC_000007.14:g.27108027C>G	gnomAD
rs1045749988	p.Gly407Val	missense variant	-	NC_000007.14:g.27108027C>A	gnomAD
rs1311531547	p.Gly407Cys	missense variant	-	NC_000007.14:g.27108028C>A	gnomAD
rs1297416759	p.His409Arg	missense variant	-	NC_000007.14:g.27108021T>C	gnomAD
rs375670849	p.His409Gln	missense variant	-	NC_000007.14:g.27108020G>T	ESP,ExAC,TOPMed,gnomAD
rs760941463	p.His410Arg	missense variant	-	NC_000007.14:g.27108018T>C	ExAC,gnomAD
rs766458165	p.His410Asp	missense variant	-	NC_000007.14:g.27108019G>C	ExAC,TOPMed,gnomAD
rs766458165	p.His410Asn	missense variant	-	NC_000007.14:g.27108019G>T	ExAC,TOPMed,gnomAD
rs773201682	p.His410Gln	missense variant	-	NC_000007.14:g.27108017G>T	ExAC,TOPMed,gnomAD
rs772165466	p.Gly411Arg	missense variant	-	NC_000007.14:g.27108016C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro412ArgPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.27108012G>-	NCI-TCGA
rs545309894	p.Pro412Leu	missense variant	-	NC_000007.14:g.27108012G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762328098	p.Pro412Ser	missense variant	-	NC_000007.14:g.27108013G>A	ExAC,gnomAD
rs1182815253	p.Gly413Glu	missense variant	-	NC_000007.14:g.27108009C>T	gnomAD
rs371131962	p.Gly415Arg	missense variant	-	NC_000007.14:g.27108004C>T	ESP,ExAC,TOPMed,gnomAD
rs749595911	p.Gly415Val	missense variant	-	NC_000007.14:g.27108003C>A	ExAC,gnomAD
rs780452042	p.Glu416Asp	missense variant	-	NC_000007.14:g.27107999C>G	ExAC,TOPMed,gnomAD
rs1265049115	p.Glu416Lys	missense variant	-	NC_000007.14:g.27108001C>T	TOPMed
rs770556616	p.Pro417Leu	missense variant	-	NC_000007.14:g.27107997G>A	ExAC,gnomAD
rs1488723579	p.Pro417Thr	missense variant	-	NC_000007.14:g.27107998G>T	TOPMed,gnomAD
rs1488723579	p.Pro417Ser	missense variant	-	NC_000007.14:g.27107998G>A	TOPMed,gnomAD
rs576361734	p.Pro419His	missense variant	-	NC_000007.14:g.27107991G>T	1000Genomes,ExAC,gnomAD
rs777199380	p.Thr420Ser	missense variant	-	NC_000007.14:g.27107988G>C	ExAC,gnomAD
rs777199380	p.Thr420Ile	missense variant	-	NC_000007.14:g.27107988G>A	ExAC,gnomAD
rs534977529	p.Tyr421Ter	stop gained	-	NC_000007.14:g.27107984G>T	ExAC,TOPMed,gnomAD
rs757934192	p.Tyr421Cys	missense variant	-	NC_000007.14:g.27107985T>C	ExAC,TOPMed,gnomAD
rs538585158	p.Thr422Met	missense variant	-	NC_000007.14:g.27107982G>A	gnomAD
rs371241609	p.Asp423Asn	missense variant	-	NC_000007.14:g.27107980C>T	ESP,TOPMed
rs748997447	p.Asp423Glu	missense variant	-	NC_000007.14:g.27107978G>T	ExAC,TOPMed,gnomAD
rs766164161	p.Leu424Ile	missense variant	-	NC_000007.14:g.27107977G>T	ExAC,gnomAD
rs1450920595	p.Thr425Ile	missense variant	-	NC_000007.14:g.27107973G>A	gnomAD
rs1483717034	p.Gly426Ser	missense variant	-	NC_000007.14:g.27107971C>T	gnomAD
rs1166189290	p.Gly426Ala	missense variant	-	NC_000007.14:g.27107970C>G	gnomAD
rs750607456	p.His427Gln	missense variant	-	NC_000007.14:g.27107966G>C	ExAC,gnomAD
rs767612903	p.His428Pro	missense variant	-	NC_000007.14:g.27107964T>G	ExAC,TOPMed,gnomAD
rs767612903	p.His428Arg	missense variant	-	NC_000007.14:g.27107964T>C	ExAC,TOPMed,gnomAD
rs1328693386	p.Pro429Ser	missense variant	-	NC_000007.14:g.27107962G>A	TOPMed
rs761812872	p.Ser430Phe	missense variant	-	NC_000007.14:g.27107958G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln431Ter	stop gained	-	NC_000007.14:g.27107956G>A	NCI-TCGA
rs1478285275	p.Gln431Leu	missense variant	-	NC_000007.14:g.27107955T>A	gnomAD
rs1478285275	p.Gln431Arg	missense variant	-	NC_000007.14:g.27107955T>C	gnomAD
NCI-TCGA novel	p.Gly432Glu	missense variant	-	NC_000007.14:g.27107952C>T	NCI-TCGA
COSM6109645	p.Gly432Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27107953C>A	NCI-TCGA Cosmic
rs1289116241	p.Gly432Arg	missense variant	-	NC_000007.14:g.27107953C>T	TOPMed
NCI-TCGA novel	p.Arg433Lys	missense variant	-	NC_000007.14:g.27107949C>T	NCI-TCGA
rs556513817	p.Glu436Gly	missense variant	-	NC_000007.14:g.27107940T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM6177255	p.Ala437Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27107937G>T	NCI-TCGA Cosmic
rs763446165	p.Ala437Val	missense variant	-	NC_000007.14:g.27107937G>A	ExAC,gnomAD
rs769210162	p.Ala437Thr	missense variant	-	NC_000007.14:g.27107938C>T	ExAC,TOPMed,gnomAD
rs775758892	p.Lys439Glu	missense variant	-	NC_000007.14:g.27107932T>C	ExAC,gnomAD
rs1291241613	p.Lys439Thr	missense variant	-	NC_000007.14:g.27107931T>G	gnomAD
COSM600804	p.Leu440Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27107929G>A	NCI-TCGA Cosmic
rs770172796	p.Thr441Ser	missense variant	-	NC_000007.14:g.27107925G>C	ExAC,TOPMed,gnomAD
rs770172796	p.Thr441Ile	missense variant	-	NC_000007.14:g.27107925G>A	ExAC,TOPMed,gnomAD
rs746664809	p.His442Tyr	missense variant	-	NC_000007.14:g.27107923G>A	ExAC,gnomAD
rs771716222	p.Leu443Val	missense variant	-	NC_000007.14:g.27107920G>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	UNIPROT
C0012236	DiGeorge Syndrome	disease	MGD
C0017638	Glioma	disease	BEFREE
C0018798	Congenital Heart Defects	group	CTD_human
C0020538	Hypertensive disease	group	GWASCAT
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0025286	Meningioma	disease	BEFREE
C0043119	Werner Syndrome	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0398368	Lymphatic Abnormalities	group	CTD_human
C0428883	Diastolic blood pressure	phenotype	GWASCAT
C0848558	Hypospadias	group	GWASCAT
C0871470	Systolic Pressure	phenotype	GWASCAT
C1762616	Meningioma, benign, no ICD-O subtype	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0003700	DNA-binding transcription factor activity	IBA
GO:0005515	protein binding	IPI
GO:0071837	HMG box domain binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001525	angiogenesis	IEP
GO:0001974	blood vessel remodeling	IEA
GO:0008284	positive regulation of cell population proliferation	IEA
GO:0009952	anterior/posterior pattern specification	IBA
GO:0010159	specification of animal organ position	IEA
GO:0010467	gene expression	IEA
GO:0021615	glossopharyngeal nerve morphogenesis	IEA
GO:0030878	thyroid gland development	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0048538	thymus development	IEA
GO:0048645	animal organ formation	IEA
GO:0048704	embryonic skeletal system morphogenesis	IBA
GO:0051216	cartilage development	IEA
GO:0060017	parathyroid gland development	IEA
GO:1900122	positive regulation of receptor binding	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	IEA
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis	IEA
R-HSA-5619507	Activation of HOX genes during differentiation	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of HOXA3 mRNA	29038090
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of HOXA3 mRNA	19150397
D000082	Acetaminophen	Acetaminophen results in decreased expression of HOXA3 mRNA	29067470
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of HOXA3 gene	27153756
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of HOXA3 mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of HOXA3 mRNA	26705709
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of HOXA3 mRNA	26238291
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of HOXA3 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of HOXA3 mRNA	27685785
C006780	bisphenol A	bisphenol A affects the methylation of HOXA3 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of HOXA3 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of HOXA3 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of HOXA3 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of HOXA3 mRNA	26079696
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of HOXA3 gene	20938992
D016572	Cyclosporine	Cyclosporine results in decreased expression of HOXA3 mRNA	20106945; 25562108;
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of HOXA3 mRNA	31163220
D004237	Diuron	Diuron results in decreased expression of HOXA3 mRNA	21551480
D004317	Doxorubicin	Doxorubicin results in decreased expression of HOXA3 protein	18351244
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of HOXA3 gene	20938992
D000077339	Leflunomide	Leflunomide results in decreased expression of HOXA3 mRNA	28988120
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of HOXA3 gene	20938992
C066471	NCS 382	NCS 382 results in decreased expression of HOXA3 mRNA	28119166
D009532	Nickel	Nickel results in decreased expression of HOXA3 mRNA	24768652; 25583101;
C029938	nickel sulfate	nickel sulfate results in increased expression of HOXA3 mRNA	22714537
D010269	Paraquat	Paraquat results in decreased expression of HOXA3 mRNA	26824344
D010936	Plant Extracts	Plant Extracts results in decreased expression of HOXA3 mRNA	23557933
D011794	Quercetin	Quercetin results in decreased expression of HOXA3 mRNA	21632981
D012906	Smoke	Smoke results in decreased expression of HOXA3 mRNA	21095227
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of HOXA3 mRNA	24058054; 26139165;
D014212	Tretinoin	Tretinoin results in increased expression of HOXA3 mRNA	17185360; 21934132;
D014212	Tretinoin	Tretinoin results in increased expression of HOXA3 mRNA	16604517; 9894676;
D014212	Tretinoin	Tretinoin results in increased expression of HOXA3 mRNA	20488242
D014260	Triclosan	Triclosan results in increased expression of HOXA3 mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of HOXA3 mRNA	26179874
D014635	Valproic Acid	Valproic Acid affects the expression of HOXA3 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of HOXA3 mRNA	23179753
D014635	Valproic Acid	Valproic Acid affects the expression of HOXA3 mRNA	17292431
D014635	Valproic Acid	Valproic Acid results in increased expression of HOXA3 mRNA	24896083
D014801	Vitamin A	Vitamin A affects the expression of HOXA3 mRNA	10992263

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR025281	DUF4074
IPR009057	Homeobox-like_sf
IPR001827	Homeobox_Antennapedia_CS
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR020479	Homeobox_metazoa

PROSITE

PROSITE ID	PROSITE Term
PS00032	ANTENNAPEDIA
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF13293	DUF4074
PF00046	Homeodomain

Gene: HOXA3

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