CleftGeneDB-Search

Gene: CYP26B1

Basic information

Tag	Content
Uniprot ID	Q9NR63; B2R8M7; B7Z2K6; B7Z2P4; B7Z3B8; E4W5W7; Q32MC0; Q53TW1; Q9NP41;
Entrez ID	56603
Genbank protein ID	AAF76003.1; ACR19332.1; BAH11930.1; AAI09206.1; BAH11892.1; BAH12154.1; AAY14690.1; AAH69443.1; BAG36224.1;
Genbank nucleotide ID	NM_019885.3; NM_001277742.1;
Ensembl protein ID	ENSP00000001146; ENSP00000443304;
Ensembl nucleotide ID	ENSG00000003137
Gene name	Cytochrome P450 26B1
Gene symbol	CYP26B1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation (PubMed:10823918, PubMed:22020119). Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA (PubMed:10823918, PubMed:22020119). Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH-RA (PubMed:10823918). Catalyzes the hydroxylation of carbon hydrogen bonds of atRA primarily at C-4 (PubMed:10823918, PubMed:22020119). Essential for postnatal survival (By similarity). Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis (By similarity). Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry (By similarity). Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints (PubMed:22019272).
Sequence	MLFEGLDLVS ALATLAACLV SVTLLLAVSQ QLWQLRWAAT RDKSCKLPIP KGSMGFPLIG 60 ETGHWLLQGS GFQSSRREKY GNVFKTHLLG RPLIRVTGAE NVRKILMGEH HLVSTEWPRS 120 TRMLLGPNTV SNSIGDIHRN KRKVFSKIFS HEALESYLPK IQLVIQDTLR AWSSHPEAIN 180 VYQEAQKLTF RMAIRVLLGF SIPEEDLGHL FEVYQQFVDN VFSLPVDLPF SGYRRGIQAR 240 QILQKGLEKA IREKLQCTQG KDYLDALDLL IESSKEHGKE MTMQELKDGT LELIFAAYAT 300 TASASTSLIM QLLKHPTVLE KLRDELRAHG ILHSGGCPCE GTLRLDTLSG LRYLDCVIKE 360 VMRLFTPISG GYRTVLQTFE LDGFQIPKGW SVMYSIRDTH DTAPVFKDVN VFDPDRFSQA 420 RSEDKDGRFH YLPFGGGVRT CLGKHLAKLF LKVLAVELAS TSRFELATRT FPRITLVPVL 480 HPVDGLSVKF FGLDSNQNEI LPETEAMLSA TV 512

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	CYP26B1	540868	E1BHJ4			Bos taurus	Prediction	More>>
1:1 ortholog	CYP26B1	483120	E2QSZ8			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	CYP26B1	102187233	A0A452EY95			Capra hircus	Prediction	More>>
1:1 ortholog	CYP26B1	56603	Q9NR63			Homo sapiens	Prediction	More>>
1:1 ortholog	Cyp26b1	232174	Q811W2	CPO	E11.75, E11.5, E12.5, E13.5, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	CYP26B1	738157	A0A2I3SUD0			Pan troglodytes	Prediction	More>>
1:1 ortholog	CYP26B1	100521659	F1SLE8			Sus scrofa	Prediction	More>>
1:1 ortholog	Cyp26b1	312495	G3V7X8			Rattus norvegicus	Prediction	More>>
1:1 ortholog	cyp26b1	324188	A0A0R4I9F4			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs772564936	p.Leu2Phe	missense variant	-	NC_000002.12:g.72147831G>A	ExAC,gnomAD
rs748697471	p.Leu2Pro	missense variant	-	NC_000002.12:g.72147830A>G	ExAC,gnomAD
rs1475382144	p.Gly5Ser	missense variant	-	NC_000002.12:g.72147822C>T	gnomAD
rs1240656554	p.Leu6Ser	missense variant	-	NC_000002.12:g.72147818A>G	gnomAD
rs1359174886	p.Leu6Phe	missense variant	-	NC_000002.12:g.72147817C>A	TOPMed,gnomAD
rs1266611031	p.Asp7Glu	missense variant	-	NC_000002.12:g.72147814A>C	TOPMed
rs1442631634	p.Val9Leu	missense variant	-	NC_000002.12:g.72147810C>A	gnomAD
rs1046197373	p.Ser10Leu	missense variant	-	NC_000002.12:g.72147806G>A	TOPMed,gnomAD
rs1201201322	p.Ala11Glu	missense variant	-	NC_000002.12:g.72147803G>T	gnomAD
rs1265750812	p.Thr14Ala	missense variant	-	NC_000002.12:g.72147795T>C	TOPMed
rs748708560	p.Leu15Phe	missense variant	-	NC_000002.12:g.72147792G>A	ExAC,TOPMed,gnomAD
rs748708560	p.Leu15Ile	missense variant	-	NC_000002.12:g.72147792G>T	ExAC,TOPMed,gnomAD
rs1359860328	p.Ala16Val	missense variant	-	NC_000002.12:g.72147788G>A	gnomAD
COSM1409336	p.Ala17Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72147785G>A	NCI-TCGA Cosmic
rs1448540640	p.Cys18Tyr	missense variant	-	NC_000002.12:g.72147782C>T	gnomAD
rs1336275912	p.Leu19Val	missense variant	-	NC_000002.12:g.72147780G>C	TOPMed,gnomAD
rs1341864609	p.Leu19Pro	missense variant	-	NC_000002.12:g.72147779A>G	gnomAD
rs1468452722	p.Val20Ala	missense variant	-	NC_000002.12:g.72147776A>G	TOPMed,gnomAD
rs142156843	p.Val22Leu	missense variant	-	NC_000002.12:g.72147771C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142156843	p.Val22Met	missense variant	-	NC_000002.12:g.72147771C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780969490	p.Leu24Pro	missense variant	-	NC_000002.12:g.72147764A>G	ExAC,TOPMed,gnomAD
rs528065075	p.Leu32Gln	missense variant	-	NC_000002.12:g.72147740A>T	1000Genomes,ExAC
rs758321648	p.Gln34His	missense variant	-	NC_000002.12:g.72147733C>G	ExAC,TOPMed,gnomAD
rs1203275112	p.Leu35Val	missense variant	-	NC_000002.12:g.72147732G>C	gnomAD
rs1292003107	p.Ala38Thr	missense variant	-	NC_000002.12:g.72147723C>T	gnomAD
rs149453254	p.Ala39Thr	missense variant	-	NC_000002.12:g.72147720C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1312651128	p.Thr40Ser	missense variant	-	NC_000002.12:g.72147716G>C	gnomAD
rs955332130	p.Arg41Cys	missense variant	-	NC_000002.12:g.72147714G>A	gnomAD
rs768012386	p.Arg41His	missense variant	-	NC_000002.12:g.72147713C>T	ExAC,TOPMed,gnomAD
rs768012386	p.Arg41Leu	missense variant	-	NC_000002.12:g.72147713C>A	ExAC,TOPMed,gnomAD
rs895342787	p.Lys43Asn	missense variant	-	NC_000002.12:g.72147706C>G	TOPMed
rs1298813119	p.Ser44Asn	missense variant	-	NC_000002.12:g.72147704C>T	gnomAD
rs1461579414	p.Cys45Phe	missense variant	-	NC_000002.12:g.72147701C>A	TOPMed,gnomAD
rs530591207	p.Leu47Met	missense variant	-	NC_000002.12:g.72147696G>T	1000Genomes,gnomAD
rs1167463662	p.Pro48His	missense variant	-	NC_000002.12:g.72147692G>T	gnomAD
NCI-TCGA novel	p.Ile49Thr	missense variant	-	NC_000002.12:g.72147689A>G	NCI-TCGA
rs1482058078	p.Ser53Cys	missense variant	-	NC_000002.12:g.72147677G>C	TOPMed
COSM4939365	p.Gly55Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72147671C>A	NCI-TCGA Cosmic
rs1162132081	p.Phe56Val	missense variant	-	NC_000002.12:g.72147669A>C	gnomAD
rs1441157335	p.Ile59Val	missense variant	-	NC_000002.12:g.72147660T>C	gnomAD
NCI-TCGA novel	p.Glu61Lys	missense variant	-	NC_000002.12:g.72147654C>T	NCI-TCGA
rs373873010	p.Gly63Val	missense variant	-	NC_000002.12:g.72147647C>A	ESP,ExAC,TOPMed,gnomAD
rs373873010	p.Gly63Ala	missense variant	-	NC_000002.12:g.72147647C>G	ESP,ExAC,TOPMed,gnomAD
rs1439031664	p.Gly63Ser	missense variant	-	NC_000002.12:g.72147648C>T	TOPMed
rs745532282	p.His64Tyr	missense variant	-	NC_000002.12:g.72147645G>A	ExAC,gnomAD
VAR_075982	p.His64Arg	Missense	-	-	UniProt
rs372471569	p.Leu67Met	missense variant	-	NC_000002.12:g.72147636G>T	ESP,ExAC,TOPMed,gnomAD
rs1242136457	p.Gln68His	missense variant	-	NC_000002.12:g.72147631C>A	gnomAD
rs1310941300	p.Gly71Ser	missense variant	-	NC_000002.12:g.72144207C>T	gnomAD
rs1273653112	p.Gly71Asp	missense variant	-	NC_000002.12:g.72144206C>T	TOPMed
rs1334593497	p.Gln73His	missense variant	-	NC_000002.12:g.72144199C>G	gnomAD
rs1334593497	p.Gln73His	missense variant	-	NC_000002.12:g.72144199C>A	gnomAD
rs1326299188	p.Ser75Leu	missense variant	-	NC_000002.12:g.72144194G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg76Trp	missense variant	-	NC_000002.12:g.72144192G>A	NCI-TCGA
COSM6158932	p.Arg77Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72144188C>A	NCI-TCGA Cosmic
rs778007886	p.Glu78Gly	missense variant	-	NC_000002.12:g.72144185T>C	ExAC,TOPMed,gnomAD
rs758517680	p.Glu78Asp	missense variant	-	NC_000002.12:g.72144184C>A	ExAC,TOPMed,gnomAD
rs1188222938	p.Lys79Gln	missense variant	-	NC_000002.12:g.72144183T>G	TOPMed
rs765571536	p.Asn82His	missense variant	-	NC_000002.12:g.72144174T>G	ExAC,TOPMed,gnomAD
rs760099961	p.Asn82Thr	missense variant	-	NC_000002.12:g.72144173T>G	ExAC,TOPMed,gnomAD
rs1390650106	p.Val83Leu	missense variant	-	NC_000002.12:g.72144171C>G	TOPMed
NCI-TCGA novel	p.Leu89Val	missense variant	-	NC_000002.12:g.72144153A>C	NCI-TCGA
rs760184136	p.Gly90Ala	missense variant	-	NC_000002.12:g.72144149C>G	ExAC,gnomAD
rs1270302167	p.Arg91Gln	missense variant	-	NC_000002.12:g.72144146C>T	gnomAD
NCI-TCGA novel	p.Arg91Pro	missense variant	-	NC_000002.12:g.72144146C>G	NCI-TCGA
rs767244001	p.Pro92Ala	missense variant	-	NC_000002.12:g.72144144G>C	ExAC,gnomAD
rs1286793044	p.Arg95Gly	missense variant	-	NC_000002.12:g.72144135G>C	gnomAD
COSM117004	p.Gly98Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72144125C>A	NCI-TCGA Cosmic
rs774348620	p.Gly98Ser	missense variant	-	NC_000002.12:g.72144126C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala99Thr	missense variant	-	NC_000002.12:g.72144123C>T	NCI-TCGA
rs749249065	p.Ala99Ser	missense variant	-	NC_000002.12:g.72144123C>A	ExAC,gnomAD
COSM1306976	p.Glu100Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72144120C>T	NCI-TCGA Cosmic
rs1282504686	p.Glu100Gly	missense variant	-	NC_000002.12:g.72144119T>C	gnomAD
rs770942832	p.Glu100Asp	missense variant	-	NC_000002.12:g.72144118C>G	ExAC,gnomAD
rs778764988	p.Val102Leu	missense variant	-	NC_000002.12:g.72144114C>A	ExAC,TOPMed,gnomAD
COSM1022703	p.Arg103Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72144111G>A	NCI-TCGA Cosmic
rs746333166	p.Arg103His	missense variant	-	NC_000002.12:g.72144110C>T	ExAC,gnomAD
rs779252042	p.Met107Val	missense variant	-	NC_000002.12:g.72144099T>C	ExAC,TOPMed,gnomAD
rs570971801	p.His110Tyr	missense variant	-	NC_000002.12:g.72144090G>A	1000Genomes,ExAC,gnomAD
rs570971801	p.His110Asp	missense variant	-	NC_000002.12:g.72144090G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.His111Arg	missense variant	-	NC_000002.12:g.72144086T>C	NCI-TCGA
rs1217039507	p.Leu112Phe	missense variant	-	NC_000002.12:g.72144084G>A	gnomAD
rs1281765906	p.Thr115Ile	missense variant	-	NC_000002.12:g.72144074G>A	gnomAD
NCI-TCGA novel	p.Thr115Ala	missense variant	-	NC_000002.12:g.72144075T>C	NCI-TCGA
COSM443179	p.Glu116Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.72144072C>A	NCI-TCGA Cosmic
rs138734968	p.Arg119His	missense variant	-	NC_000002.12:g.72144062C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6092389	p.Arg119Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72144063G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg119Cys	missense variant	-	NC_000002.12:g.72144063G>A	NCI-TCGA
rs138734968	p.Arg119Pro	missense variant	-	NC_000002.12:g.72144062C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766925918	p.Thr121Ile	missense variant	-	NC_000002.12:g.72144056G>A	ExAC,gnomAD
rs774086470	p.Met123Thr	missense variant	-	NC_000002.12:g.72144050A>G	ExAC,TOPMed,gnomAD
rs761628022	p.Met123Val	missense variant	-	NC_000002.12:g.72144051T>C	ExAC,TOPMed,gnomAD
rs774086470	p.Met123Lys	missense variant	-	NC_000002.12:g.72144050A>T	ExAC,TOPMed,gnomAD
rs764000669	p.Pro127Ser	missense variant	-	NC_000002.12:g.72144039G>A	ExAC,gnomAD
rs762792792	p.Val130Leu	missense variant	-	NC_000002.12:g.72144030C>G	ExAC,gnomAD
rs1474253732	p.Asn132His	missense variant	-	NC_000002.12:g.72144024T>G	TOPMed
rs369946891	p.Asn132Ser	missense variant	-	NC_000002.12:g.72144023T>C	ESP,ExAC,TOPMed,gnomAD
rs1419156117	p.Ile134Thr	missense variant	-	NC_000002.12:g.72144017A>G	TOPMed
rs1023420049	p.Asp136Glu	missense variant	-	NC_000002.12:g.72144010G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg139Pro	missense variant	-	NC_000002.12:g.72144002C>G	NCI-TCGA
rs1406849985	p.Arg139His	missense variant	-	NC_000002.12:g.72144002C>T	gnomAD
rs772070692	p.Asn140Lys	missense variant	-	NC_000002.12:g.72143998G>C	ExAC,TOPMed,gnomAD
rs200324765	p.Asn140Ile	missense variant	-	NC_000002.12:g.72143999T>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Lys141Glu	missense variant	-	NC_000002.12:g.72143997T>C	NCI-TCGA
rs779059419	p.Lys143Thr	missense variant	-	NC_000002.12:g.72143990T>G	ExAC,TOPMed,gnomAD
rs779059419	p.Lys143Arg	missense variant	-	NC_000002.12:g.72143990T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys143Asn	missense variant	-	NC_000002.12:g.72143989C>A	NCI-TCGA
rs1385026392	p.Val144Phe	missense variant	-	NC_000002.12:g.72135419C>A	TOPMed,gnomAD
RCV000059691	p.Ser146Pro	missense variant	-	NC_000002.12:g.72135413A>G	ClinVar
rs281875232	p.Ser146Pro	missense variant	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	NC_000002.12:g.72135413A>G	UniProt,dbSNP
VAR_067923	p.Ser146Pro	missense variant	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	NC_000002.12:g.72135413A>G	UniProt
rs1162185065	p.Lys147Asn	missense variant	-	NC_000002.12:g.72135408C>G	gnomAD
NCI-TCGA novel	p.His151Tyr	missense variant	-	NC_000002.12:g.72135398G>A	NCI-TCGA
rs143622603	p.Glu152Lys	missense variant	-	NC_000002.12:g.72135395C>T	ESP,ExAC,TOPMed,gnomAD
rs777408706	p.Ala153Pro	missense variant	-	NC_000002.12:g.72135392C>G	ExAC,TOPMed,gnomAD
rs777408706	p.Ala153Ser	missense variant	-	NC_000002.12:g.72135392C>A	ExAC,TOPMed,gnomAD
rs777408706	p.Ala153Thr	missense variant	-	NC_000002.12:g.72135392C>T	ExAC,TOPMed,gnomAD
rs1160154460	p.Leu154Val	missense variant	-	NC_000002.12:g.72135389G>C	TOPMed
rs752223643	p.Glu155Asp	missense variant	-	NC_000002.12:g.72135384C>G	ExAC,gnomAD
rs758135535	p.Glu155Lys	missense variant	-	NC_000002.12:g.72135386C>T	ExAC,gnomAD
rs752223643	p.Glu155Asp	missense variant	-	NC_000002.12:g.72135384C>A	ExAC,gnomAD
rs572989034	p.Ser156Gly	missense variant	-	NC_000002.12:g.72135383T>C	1000Genomes,ExAC,gnomAD
rs759204214	p.Ser156Ile	missense variant	-	NC_000002.12:g.72135382C>A	ExAC,TOPMed,gnomAD
rs760584093	p.Pro159Leu	missense variant	-	NC_000002.12:g.72135373G>A	ExAC,gnomAD
rs774475846	p.Lys160Arg	missense variant	-	NC_000002.12:g.72135370T>C	ExAC,gnomAD
rs1285688525	p.Lys160Glu	missense variant	-	NC_000002.12:g.72135371T>C	gnomAD
rs768721885	p.Gln162Arg	missense variant	-	NC_000002.12:g.72135364T>C	ExAC,gnomAD
rs1157706433	p.Ile165Thr	missense variant	-	NC_000002.12:g.72135355A>G	gnomAD
rs1345462166	p.Ile165Val	missense variant	-	NC_000002.12:g.72135356T>C	gnomAD
rs770223566	p.Arg170Gly	missense variant	-	NC_000002.12:g.72135341G>C	ExAC,TOPMed,gnomAD
rs371218756	p.Arg170His	missense variant	-	NC_000002.12:g.72135340C>T	ESP,ExAC,TOPMed,gnomAD
rs770223566	p.Arg170Cys	missense variant	-	NC_000002.12:g.72135341G>A	ExAC,TOPMed,gnomAD
rs371218756	p.Arg170Pro	missense variant	-	NC_000002.12:g.72135340C>G	ESP,ExAC,TOPMed,gnomAD
rs377118511	p.Ala171Thr	missense variant	-	NC_000002.12:g.72135338C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377118511	p.Ala171Ser	missense variant	-	NC_000002.12:g.72135338C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser173Ile	missense variant	-	NC_000002.12:g.72135331C>A	NCI-TCGA
rs1261578626	p.Ser174Asn	missense variant	-	NC_000002.12:g.72135328C>T	gnomAD
NCI-TCGA novel	p.His175Asp	missense variant	-	NC_000002.12:g.72135326G>C	NCI-TCGA
rs1280740370	p.His175Tyr	missense variant	-	NC_000002.12:g.72135326G>A	TOPMed
rs757787561	p.His175Gln	missense variant	-	NC_000002.12:g.72135324G>T	ExAC,TOPMed,gnomAD
rs140577367	p.Pro176Leu	missense variant	-	NC_000002.12:g.72135322G>A	ESP,ExAC,TOPMed,gnomAD
COSM5224682	p.Glu177ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.72135321G>-	NCI-TCGA Cosmic
rs201533354	p.Glu177Lys	missense variant	-	NC_000002.12:g.72135320C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1299608933	p.Ala178Val	missense variant	-	NC_000002.12:g.72135316G>A	gnomAD
rs753682172	p.Ala178Thr	missense variant	-	NC_000002.12:g.72135317C>T	ExAC,gnomAD
rs924427311	p.Asn180His	missense variant	-	NC_000002.12:g.72135311T>G	TOPMed
rs201603348	p.Asn180Ser	missense variant	-	NC_000002.12:g.72135310T>C	ESP,ExAC,TOPMed,gnomAD
rs142999899	p.Val181Met	missense variant	-	NC_000002.12:g.72135308C>T	UniProt,dbSNP
VAR_038722	p.Val181Met	missense variant	-	NC_000002.12:g.72135308C>T	UniProt
rs142999899	p.Val181Met	missense variant	-	NC_000002.12:g.72135308C>T	ESP,ExAC,TOPMed,gnomAD
rs142707455	p.Gln183His	missense variant	-	NC_000002.12:g.72135300C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1407577896	p.Gln183Glu	missense variant	-	NC_000002.12:g.72135302G>C	gnomAD
rs1426591266	p.Gln183Arg	missense variant	-	NC_000002.12:g.72135301T>C	TOPMed
rs1469224066	p.Glu184Lys	missense variant	-	NC_000002.12:g.72135299C>T	gnomAD
rs765423228	p.Ala185Val	missense variant	-	NC_000002.12:g.72135295G>A	ExAC,TOPMed,gnomAD
rs1447524545	p.Gln186Arg	missense variant	-	NC_000002.12:g.72135292T>C	TOPMed,gnomAD
rs777202035	p.Lys187Met	missense variant	-	NC_000002.12:g.72135289T>A	ExAC,gnomAD
rs200044057	p.Arg191Cys	missense variant	-	NC_000002.12:g.72135278G>A	ESP,ExAC,TOPMed,gnomAD
rs76025186	p.Arg191His	missense variant	-	NC_000002.12:g.72135277C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs76025186	p.Arg191His	missense variant	-	NC_000002.12:g.72135277C>T	UniProt,dbSNP
VAR_038724	p.Arg191His	missense variant	-	NC_000002.12:g.72135277C>T	UniProt
rs76025186	p.Arg191Leu	missense variant	-	NC_000002.12:g.72135277C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1022700	p.Met192Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72135275T>C	NCI-TCGA Cosmic
rs773804911	p.Met192Thr	missense variant	-	NC_000002.12:g.72135274A>G	ExAC,gnomAD
rs771644483	p.Ala193Thr	missense variant	-	NC_000002.12:g.72135272C>T	ExAC,TOPMed,gnomAD
rs150376229	p.Ile194Phe	missense variant	-	NC_000002.12:g.72135269T>A	ESP,ExAC,gnomAD
rs150376229	p.Ile194Val	missense variant	-	NC_000002.12:g.72135269T>C	ESP,ExAC,gnomAD
rs778463797	p.Ile194Asn	missense variant	-	NC_000002.12:g.72135268A>T	ExAC,gnomAD
rs754646653	p.Arg195Trp	missense variant	-	NC_000002.12:g.72135266G>A	ExAC,TOPMed,gnomAD
rs748938965	p.Arg195Gln	missense variant	-	NC_000002.12:g.72135265C>T	ExAC,gnomAD
rs779832742	p.Leu197Met	missense variant	-	NC_000002.12:g.72135260G>T	ExAC,TOPMed,gnomAD
rs755847410	p.Gly199Ser	missense variant	-	NC_000002.12:g.72135254C>T	ExAC,TOPMed,gnomAD
rs185325941	p.Phe200Ile	missense variant	-	NC_000002.12:g.72135251A>T	1000Genomes,ExAC,gnomAD
rs185325941	p.Phe200Leu	missense variant	-	NC_000002.12:g.72135251A>G	1000Genomes,ExAC,gnomAD
rs767391790	p.Ser201Gly	missense variant	-	NC_000002.12:g.72135248T>C	ExAC,gnomAD
rs1299771815	p.Ile202Thr	missense variant	-	NC_000002.12:g.72135244A>G	gnomAD
rs148276322	p.Ile202Val	missense variant	-	NC_000002.12:g.72135245T>C	ESP,ExAC,TOPMed,gnomAD
rs142987158	p.Pro203Ser	missense variant	-	NC_000002.12:g.72135242G>A	-
rs1004249752	p.Pro203Arg	missense variant	-	NC_000002.12:g.72135241G>C	gnomAD
rs1166557952	p.Glu204Asp	missense variant	-	NC_000002.12:g.72135237C>G	gnomAD
rs759841282	p.Asp206Asn	missense variant	-	NC_000002.12:g.72135233C>T	ExAC,gnomAD
rs1267031669	p.Leu207Val	missense variant	-	NC_000002.12:g.72135230G>C	TOPMed
rs373209334	p.Gly208Arg	missense variant	-	NC_000002.12:g.72135227C>T	ESP,TOPMed,gnomAD
rs140538900	p.His209Asp	missense variant	-	NC_000002.12:g.72135224G>C	ESP,ExAC,TOPMed,gnomAD
rs1441876570	p.Leu210Phe	missense variant	-	NC_000002.12:g.72135221G>A	gnomAD
rs766871295	p.Glu212Asp	missense variant	-	NC_000002.12:g.72135213C>A	ExAC,gnomAD
rs1481279059	p.Tyr214His	missense variant	-	NC_000002.12:g.72135209A>G	gnomAD
rs1226698742	p.Val218Ala	missense variant	-	NC_000002.12:g.72135196A>G	gnomAD
rs1274364128	p.Val218Met	missense variant	-	NC_000002.12:g.72135197C>T	gnomAD
rs1274364128	p.Val218Leu	missense variant	-	NC_000002.12:g.72135197C>G	gnomAD
rs773597135	p.Asp219Gly	missense variant	-	NC_000002.12:g.72135193T>C	ExAC,gnomAD
rs1315247334	p.Asn220Ser	missense variant	-	NC_000002.12:g.72135190T>C	gnomAD
rs748675065	p.Val221Ile	missense variant	-	NC_000002.12:g.72135188C>T	ExAC,gnomAD
rs143738797	p.Asp227His	missense variant	-	NC_000002.12:g.72135170C>G	ESP,ExAC,TOPMed,gnomAD
rs143738797	p.Asp227Asn	missense variant	-	NC_000002.12:g.72135170C>T	UniProt,dbSNP
VAR_038725	p.Asp227Asn	missense variant	-	NC_000002.12:g.72135170C>T	UniProt
rs143738797	p.Asp227Asn	missense variant	-	NC_000002.12:g.72135170C>T	ESP,ExAC,TOPMed,gnomAD
rs779635850	p.Leu228Met	missense variant	-	NC_000002.12:g.72135167G>T	ExAC,TOPMed,gnomAD
rs779635850	p.Leu228Val	missense variant	-	NC_000002.12:g.72135167G>C	ExAC,TOPMed,gnomAD
rs1426264965	p.Leu228Pro	missense variant	-	NC_000002.12:g.72135166A>G	gnomAD
rs745709853	p.Ser231Gly	missense variant	-	NC_000002.12:g.72135158T>C	ExAC,TOPMed,gnomAD
rs745709853	p.Ser231Cys	missense variant	-	NC_000002.12:g.72135158T>A	ExAC,TOPMed,gnomAD
rs781024081	p.Tyr233Ter	stop gained	-	NC_000002.12:g.72135150G>T	ExAC,gnomAD
rs757205343	p.Arg234Gln	missense variant	-	NC_000002.12:g.72135148C>T	ExAC,TOPMed,gnomAD
rs1057421828	p.Arg234Trp	missense variant	-	NC_000002.12:g.72135149G>A	TOPMed
rs751447267	p.Arg235Trp	missense variant	-	NC_000002.12:g.72135146G>A	ExAC,gnomAD
rs267599444	p.Arg235Gln	missense variant	-	NC_000002.12:g.72135145C>T	ExAC,TOPMed,gnomAD
rs267599444	p.Arg235Leu	missense variant	-	NC_000002.12:g.72135145C>A	ExAC,TOPMed,gnomAD
COSM3839962	p.Gln238Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134910G>C	NCI-TCGA Cosmic
rs1471226375	p.Ala239Thr	missense variant	-	NC_000002.12:g.72134907C>T	TOPMed,gnomAD
rs758378592	p.Ala239Val	missense variant	-	NC_000002.12:g.72134906G>A	ExAC,gnomAD
rs1359914942	p.Arg240Trp	missense variant	-	NC_000002.12:g.72134904G>A	TOPMed,gnomAD
rs754021915	p.Arg240Gln	missense variant	-	NC_000002.12:g.72134903C>T	ExAC,TOPMed,gnomAD
rs1359914942	p.Arg240Gly	missense variant	-	NC_000002.12:g.72134904G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln241His	missense variant	-	NC_000002.12:g.72134899C>A	NCI-TCGA
rs1244199121	p.Gln241His	missense variant	-	NC_000002.12:g.72134899C>G	TOPMed,gnomAD
rs750593083	p.Gln244Arg	missense variant	-	NC_000002.12:g.72134891T>C	ExAC,TOPMed,gnomAD
COSM477621	p.Gly246Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134886C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu247Pro	missense variant	-	NC_000002.12:g.72134882A>G	NCI-TCGA
COSM3583079	p.Glu248Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134880C>T	NCI-TCGA Cosmic
rs1176524111	p.Lys249Arg	missense variant	-	NC_000002.12:g.72134876T>C	TOPMed
COSM6158934	p.Lys249Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.72134877T>A	NCI-TCGA Cosmic
rs767790315	p.Arg252Leu	missense variant	-	NC_000002.12:g.72134867C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg252Trp	missense variant	-	NC_000002.12:g.72134868G>A	NCI-TCGA
rs1277769076	p.Arg252Gly	missense variant	-	NC_000002.12:g.72134868G>C	gnomAD
rs767790315	p.Arg252Gln	missense variant	-	NC_000002.12:g.72134867C>T	ExAC,TOPMed,gnomAD
COSM3426652	p.Glu253Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134863C>A	NCI-TCGA Cosmic
rs1419822447	p.Lys254Asn	missense variant	-	NC_000002.12:g.72134860C>A	TOPMed
rs764629575	p.Thr258Pro	missense variant	-	NC_000002.12:g.72134850T>G	ExAC,gnomAD
rs1376047912	p.Gln259Arg	missense variant	-	NC_000002.12:g.72134846T>C	TOPMed
COSM6158935	p.Gln259Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134846T>A	NCI-TCGA Cosmic
rs1052765092	p.Gly260Ala	missense variant	-	NC_000002.12:g.72134843C>G	TOPMed
rs1359853659	p.Tyr263Phe	missense variant	-	NC_000002.12:g.72134834T>A	gnomAD
rs934693080	p.Tyr263His	missense variant	-	NC_000002.12:g.72134835A>G	TOPMed,gnomAD
rs2241057	p.Leu264Ser	missense variant	-	NC_000002.12:g.72134831A>G	UniProt,dbSNP
VAR_024383	p.Leu264Ser	missense variant	-	NC_000002.12:g.72134831A>G	UniProt
rs2241057	p.Leu264Ser	missense variant	-	NC_000002.12:g.72134831A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1375116681	p.Asp265Tyr	missense variant	-	NC_000002.12:g.72134829C>A	TOPMed
rs1448467960	p.Ala266Thr	missense variant	-	NC_000002.12:g.72134826C>T	gnomAD
rs373199495	p.Leu269Val	missense variant	-	NC_000002.12:g.72134817G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs776297916	p.Ile271Thr	missense variant	-	NC_000002.12:g.72134810A>G	ExAC,gnomAD
rs1411170408	p.Glu272Asp	missense variant	-	NC_000002.12:g.72134806C>G	TOPMed,gnomAD
rs552735673	p.Glu272Gln	missense variant	-	NC_000002.12:g.72134808C>G	ExAC,gnomAD
rs1411170408	p.Glu272Asp	missense variant	-	NC_000002.12:g.72134806C>A	TOPMed,gnomAD
rs552735673	p.Glu272Lys	missense variant	-	NC_000002.12:g.72134808C>T	ExAC,gnomAD
rs1224811488	p.Glu272Gly	missense variant	-	NC_000002.12:g.72134807T>C	TOPMed
rs933042559	p.Ser274Asn	missense variant	-	NC_000002.12:g.72134801C>T	TOPMed,gnomAD
rs746859688	p.Lys275Glu	missense variant	-	NC_000002.12:g.72134799T>C	ExAC,TOPMed,gnomAD
rs761872556	p.Glu276Lys	missense variant	-	NC_000002.12:g.72134796C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu276Gly	missense variant	-	NC_000002.12:g.72134795T>C	NCI-TCGA
rs772196527	p.Glu276Asp	missense variant	-	NC_000002.12:g.72134794C>A	ExAC,gnomAD
rs752687829	p.His277Tyr	missense variant	-	NC_000002.12:g.72134793G>A	TOPMed,gnomAD
rs371681434	p.Gly278Arg	missense variant	-	NC_000002.12:g.72134790C>T	ESP,ExAC,TOPMed,gnomAD
COSM721890	p.Glu280Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134784C>T	NCI-TCGA Cosmic
rs1379914621	p.Met281Ile	missense variant	-	NC_000002.12:g.72134779C>T	gnomAD
rs557070285	p.Met283Val	missense variant	-	NC_000002.12:g.72134775T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs141708899	p.Met283Thr	missense variant	-	NC_000002.12:g.72134774A>G	ESP,TOPMed
rs541667058	p.Gln284Pro	missense variant	-	NC_000002.12:g.72134771T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs757392647	p.Leu286Pro	missense variant	-	NC_000002.12:g.72134765A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp288Gly	missense variant	-	NC_000002.12:g.72133306T>C	NCI-TCGA
rs1285546852	p.Asp288Asn	missense variant	-	NC_000002.12:g.72133307C>T	gnomAD
COSM6158559	p.Gly289Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72133304C>G	NCI-TCGA Cosmic
rs746004639	p.Gly289Arg	missense variant	-	NC_000002.12:g.72133304C>T	ExAC,TOPMed,gnomAD
rs747164535	p.Ala296Val	missense variant	-	NC_000002.12:g.72133282G>A	ExAC,TOPMed,gnomAD
rs1431421956	p.Ala297Thr	missense variant	-	NC_000002.12:g.72133280C>T	gnomAD
rs758711951	p.Tyr298Cys	missense variant	-	NC_000002.12:g.72133276T>C	ExAC,TOPMed,gnomAD
rs1432342083	p.Ala299Thr	missense variant	-	NC_000002.12:g.72133274C>T	gnomAD
rs1297894846	p.Thr300Ser	missense variant	-	NC_000002.12:g.72133270G>C	TOPMed
rs765773815	p.Thr301Met	missense variant	-	NC_000002.12:g.72133267G>A	ExAC,TOPMed,gnomAD
rs1208231104	p.Ser303Asn	missense variant	-	NC_000002.12:g.72133261C>T	gnomAD
rs1265502262	p.Ala304Thr	missense variant	-	NC_000002.12:g.72133259C>T	TOPMed,gnomAD
rs1365530352	p.Ile309Val	missense variant	-	NC_000002.12:g.72133244T>C	gnomAD
rs767445909	p.Met310Thr	missense variant	-	NC_000002.12:g.72133240A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu312Pro	missense variant	-	NC_000002.12:g.72133234A>G	NCI-TCGA
rs1375704133	p.His315Tyr	missense variant	-	NC_000002.12:g.72133226G>A	gnomAD
rs760927777	p.Pro316Ala	missense variant	-	NC_000002.12:g.72133223G>C	ExAC,TOPMed,gnomAD
rs760927777	p.Pro316Thr	missense variant	-	NC_000002.12:g.72133223G>T	ExAC,TOPMed,gnomAD
rs760927777	p.Pro316Ser	missense variant	-	NC_000002.12:g.72133223G>A	ExAC,TOPMed,gnomAD
rs749174580	p.Thr317Ser	missense variant	-	NC_000002.12:g.72133220T>A	ExAC,gnomAD
rs1201516045	p.Glu320Asp	missense variant	-	NC_000002.12:g.72133209C>A	gnomAD
rs144989898	p.Lys321Thr	missense variant	-	NC_000002.12:g.72133207T>G	ESP,ExAC,TOPMed,gnomAD
COSM1483243	p.Leu322Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72133205G>T	NCI-TCGA Cosmic
rs138478634	p.Arg323Trp	missense variant	-	NC_000002.12:g.72133202G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs534997827	p.Arg323Gln	missense variant	-	NC_000002.12:g.72133201C>T	ExAC,TOPMed,gnomAD
rs200922951	p.Arg327Gln	missense variant	-	NC_000002.12:g.72133189C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199909218	p.Arg327Trp	missense variant	-	NC_000002.12:g.72133190G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200922951	p.Arg327Pro	missense variant	-	NC_000002.12:g.72133189C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His329Asp	missense variant	-	NC_000002.12:g.72133184G>C	NCI-TCGA
rs755576009	p.His329Tyr	missense variant	-	NC_000002.12:g.72133184G>A	ExAC,TOPMed,gnomAD
rs1384286104	p.His329Arg	missense variant	-	NC_000002.12:g.72133183T>C	gnomAD
rs377154115	p.Gly330Asp	missense variant	-	NC_000002.12:g.72133180C>T	ESP,ExAC,gnomAD
rs755637788	p.Ile331Val	missense variant	-	NC_000002.12:g.72133178T>C	ExAC,gnomAD
rs767321192	p.Gly335Asp	missense variant	-	NC_000002.12:g.72133165C>T	ExAC,gnomAD
rs199651471	p.Gly336Ser	missense variant	-	NC_000002.12:g.72133163C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1447953731	p.Gly336Asp	missense variant	-	NC_000002.12:g.72133162C>T	gnomAD
rs1370266777	p.Cys337Arg	missense variant	-	NC_000002.12:g.72133160A>G	gnomAD
rs763726637	p.Cys337Tyr	missense variant	-	NC_000002.12:g.72133159C>T	ExAC,TOPMed,gnomAD
rs1487384277	p.Cys337Trp	missense variant	-	NC_000002.12:g.72133158G>C	gnomAD
NCI-TCGA novel	p.Pro338Ser	missense variant	-	NC_000002.12:g.72133157G>A	NCI-TCGA
rs1423723905	p.Pro338Leu	missense variant	-	NC_000002.12:g.72133156G>A	gnomAD
rs985992581	p.Cys339Arg	missense variant	-	NC_000002.12:g.72133154A>G	gnomAD
rs368459555	p.Glu340Lys	missense variant	-	NC_000002.12:g.72133151C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly341Cys	missense variant	-	NC_000002.12:g.72133148C>A	NCI-TCGA
rs990699984	p.Leu343Pro	missense variant	-	NC_000002.12:g.72133141A>G	TOPMed,gnomAD
rs144968323	p.Arg344Cys	missense variant	-	NC_000002.12:g.72133139G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772338043	p.Arg344His	missense variant	-	NC_000002.12:g.72133138C>T	ExAC,TOPMed,gnomAD
rs772338043	p.Arg344Leu	missense variant	-	NC_000002.12:g.72133138C>A	ExAC,TOPMed,gnomAD
rs772338043	p.Arg344Pro	missense variant	-	NC_000002.12:g.72133138C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu345Pro	missense variant	-	NC_000002.12:g.72133135A>G	NCI-TCGA
rs779339631	p.Asp346Gly	missense variant	-	NC_000002.12:g.72133132T>C	ExAC,gnomAD
rs200556766	p.Thr347Met	missense variant	-	NC_000002.12:g.72133129G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs542224246	p.Thr347Ala	missense variant	-	NC_000002.12:g.72133130T>C	1000Genomes,ExAC,gnomAD
COSM6158562	p.Gly350Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72133120C>T	NCI-TCGA Cosmic
rs750006908	p.Gly350Trp	missense variant	-	NC_000002.12:g.72133121C>A	ExAC,TOPMed,gnomAD
rs1393213444	p.Leu351Pro	missense variant	-	NC_000002.12:g.72133117A>G	TOPMed,gnomAD
rs780839308	p.Arg352Cys	missense variant	-	NC_000002.12:g.72133115G>A	ExAC,gnomAD
rs756970139	p.Arg352His	missense variant	-	NC_000002.12:g.72133114C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg352Ser	missense variant	-	NC_000002.12:g.72133115G>T	NCI-TCGA
rs756970139	p.Arg352Leu	missense variant	-	NC_000002.12:g.72133114C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr353Phe	missense variant	-	NC_000002.12:g.72133111T>A	NCI-TCGA
rs751110755	p.Leu354Val	missense variant	-	NC_000002.12:g.72133109G>C	ExAC,gnomAD
rs541205721	p.Val357Ile	missense variant	-	NC_000002.12:g.72133100C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val357Asp	missense variant	-	NC_000002.12:g.72133099A>T	NCI-TCGA
rs541205721	p.Val357Leu	missense variant	-	NC_000002.12:g.72133100C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs957694884	p.Val357Ala	missense variant	-	NC_000002.12:g.72133099A>G	TOPMed
rs1402394919	p.Ile358Val	missense variant	-	NC_000002.12:g.72133097T>C	TOPMed
rs759456027	p.Met362Val	missense variant	-	NC_000002.12:g.72133085T>C	ExAC,gnomAD
rs368295866	p.Met362Ile	missense variant	-	NC_000002.12:g.72133083C>T	ESP,TOPMed
RCV000023400	p.Arg363Leu	missense variant	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	NC_000002.12:g.72133081C>A	ClinVar
RCV000498598	p.Arg363His	missense variant	-	NC_000002.12:g.72133081C>T	ClinVar
rs281875231	p.Arg363Leu	missense variant	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	NC_000002.12:g.72133081C>A	UniProt,dbSNP
VAR_067924	p.Arg363Leu	missense variant	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	NC_000002.12:g.72133081C>A	UniProt
rs1452952788	p.Arg363Cys	missense variant	-	NC_000002.12:g.72133082G>A	gnomAD
rs281875231	p.Arg363His	missense variant	-	NC_000002.12:g.72133081C>T	-
COSM1409331	p.Leu364Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72133079G>T	NCI-TCGA Cosmic
rs1208901871	p.Phe365Leu	missense variant	-	NC_000002.12:g.72133076A>G	gnomAD
rs1304178112	p.Phe365Cys	missense variant	-	NC_000002.12:g.72133075A>C	TOPMed
rs375893162	p.Thr366Ala	missense variant	-	NC_000002.12:g.72133073T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly370Cys	missense variant	-	NC_000002.12:g.72133061C>A	NCI-TCGA
NCI-TCGA novel	p.Gly370Asp	missense variant	-	NC_000002.12:g.72133060C>T	NCI-TCGA
rs1286205679	p.Gly371Ser	missense variant	-	NC_000002.12:g.72133058C>T	gnomAD
NCI-TCGA novel	p.Arg373His	missense variant	-	NC_000002.12:g.72133051C>T	NCI-TCGA
rs1406495401	p.Arg373Cys	missense variant	-	NC_000002.12:g.72133052G>A	gnomAD
rs1463081010	p.Thr374Ile	missense variant	-	NC_000002.12:g.72133048G>A	gnomAD
rs769098244	p.Thr374Ala	missense variant	-	NC_000002.12:g.72133049T>C	ExAC,gnomAD
rs1324374595	p.Val375Met	missense variant	-	NC_000002.12:g.72133046C>T	gnomAD
rs1386433873	p.Val375Ala	missense variant	-	NC_000002.12:g.72133045A>G	gnomAD
rs141249406	p.Gln377His	missense variant	-	NC_000002.12:g.72133038C>G	ESP,ExAC,TOPMed,gnomAD
rs2286965	p.Glu380Lys	missense variant	-	NC_000002.12:g.72133031C>T	UniProt,dbSNP
VAR_038726	p.Glu380Lys	missense variant	-	NC_000002.12:g.72133031C>T	UniProt
rs2286965	p.Glu380Lys	missense variant	-	NC_000002.12:g.72133031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp382His	missense variant	-	NC_000002.12:g.72133025C>G	NCI-TCGA
rs772601509	p.Gly383Asp	missense variant	-	NC_000002.12:g.72132618C>T	ExAC,gnomAD
COSM1022699	p.Gln385His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132611C>A	NCI-TCGA Cosmic
rs771554128	p.Ile386Thr	missense variant	-	NC_000002.12:g.72132609A>G	ExAC
rs768269439	p.Lys388Arg	missense variant	-	NC_000002.12:g.72132603T>C	ExAC,TOPMed,gnomAD
COSM6091962	p.Lys388Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132604T>C	NCI-TCGA Cosmic
rs1403516041	p.Trp390Ter	stop gained	-	NC_000002.12:g.72132597C>T	TOPMed
rs1277024771	p.Ser391Gly	missense variant	-	NC_000002.12:g.72132595T>C	TOPMed
NCI-TCGA novel	p.Ser391GluPheSerTerUnk	frameshift	-	NC_000002.12:g.72132595_72132596insC	NCI-TCGA
rs749134025	p.Ser391Asn	missense variant	-	NC_000002.12:g.72132594C>T	ExAC,gnomAD
rs1346113905	p.Val392Ile	missense variant	-	NC_000002.12:g.72132592C>T	TOPMed
rs1341772264	p.Met393Ile	missense variant	-	NC_000002.12:g.72132587C>G	gnomAD
rs1206134664	p.Met393Leu	missense variant	-	NC_000002.12:g.72132589T>G	gnomAD
rs756077143	p.Arg397Gln	missense variant	-	NC_000002.12:g.72132576C>T	ExAC,TOPMed,gnomAD
rs779814291	p.Arg397Trp	missense variant	-	NC_000002.12:g.72132577G>A	ExAC,gnomAD
RCV000498080	p.Arg397Gln	missense variant	-	NC_000002.12:g.72132576C>T	ClinVar
rs376229739	p.Asp401Glu	missense variant	-	NC_000002.12:g.72132563G>T	ESP,ExAC,TOPMed,gnomAD
rs373423328	p.Thr402Arg	missense variant	-	NC_000002.12:g.72132561G>C	ESP,ExAC,gnomAD
rs1309087026	p.Ala403Val	missense variant	-	NC_000002.12:g.72132558G>A	gnomAD
rs759817226	p.Val405Met	missense variant	-	NC_000002.12:g.72132553C>T	ExAC,TOPMed,gnomAD
rs965407824	p.Lys407Gln	missense variant	-	NC_000002.12:g.72132547T>G	TOPMed,gnomAD
COSM1022698	p.Asp408Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132544C>A	NCI-TCGA Cosmic
rs370211150	p.Val409Leu	missense variant	-	NC_000002.12:g.72132541C>A	ESP,ExAC,TOPMed,gnomAD
rs370211150	p.Val409Met	missense variant	-	NC_000002.12:g.72132541C>T	ESP,ExAC,TOPMed,gnomAD
rs182029240	p.Val411Met	missense variant	-	NC_000002.12:g.72132535C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1181247007	p.Asp413Asn	missense variant	-	NC_000002.12:g.72132529C>T	gnomAD
rs773830856	p.Asp415Asn	missense variant	-	NC_000002.12:g.72132523C>T	ExAC,TOPMed,gnomAD
rs768357577	p.Arg416Gly	missense variant	-	NC_000002.12:g.72132520G>C	ExAC,gnomAD
rs545107761	p.Arg416His	missense variant	-	NC_000002.12:g.72132519C>T	TOPMed,gnomAD
rs748938778	p.Ser418Arg	missense variant	-	NC_000002.12:g.72132514T>G	ExAC,gnomAD
rs7568553	p.Ala420Val	missense variant	-	NC_000002.12:g.72132507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs7568553	p.Ala420Gly	missense variant	-	NC_000002.12:g.72132507G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1331887504	p.Ala420Thr	missense variant	-	NC_000002.12:g.72132508C>T	TOPMed,gnomAD
RCV000514998	p.Ala420Gly	missense variant	-	NC_000002.12:g.72132507G>C	ClinVar
rs571722272	p.Arg421Trp	missense variant	-	NC_000002.12:g.72132505G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752879483	p.Arg421Gln	missense variant	-	NC_000002.12:g.72132504C>T	ExAC,TOPMed,gnomAD
rs1436766682	p.Ser422Arg	missense variant	-	NC_000002.12:g.72132500G>T	TOPMed,gnomAD
rs1348778460	p.Glu423Lys	missense variant	-	NC_000002.12:g.72132499C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asp424Tyr	missense variant	-	NC_000002.12:g.72132496C>A	NCI-TCGA
rs779129723	p.Lys425Glu	missense variant	-	NC_000002.12:g.72132493T>C	ExAC,gnomAD
COSM3695594	p.Gly427Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132486C>T	NCI-TCGA Cosmic
rs1458729157	p.Gly427Ser	missense variant	-	NC_000002.12:g.72132487C>T	gnomAD
rs755255380	p.Arg428Cys	missense variant	-	NC_000002.12:g.72132484G>A	ExAC,gnomAD
rs758398183	p.Arg428His	missense variant	-	NC_000002.12:g.72132483C>T	ExAC,TOPMed,gnomAD
rs758398183	p.Arg428Leu	missense variant	-	NC_000002.12:g.72132483C>A	ExAC,TOPMed,gnomAD
rs766677136	p.His430Tyr	missense variant	-	NC_000002.12:g.72132478G>A	ExAC,gnomAD
COSM721892	p.Pro433Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132468G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly435Val	missense variant	-	NC_000002.12:g.72132462C>A	NCI-TCGA
rs1211950654	p.Gly435Ser	missense variant	-	NC_000002.12:g.72132463C>T	gnomAD
rs1228321015	p.Gly437Ser	missense variant	-	NC_000002.12:g.72132457C>T	gnomAD
rs762297468	p.Val438Ile	missense variant	-	NC_000002.12:g.72132454C>T	ExAC,gnomAD
rs773920775	p.Val438Asp	missense variant	-	NC_000002.12:g.72132453A>T	ExAC,gnomAD
rs1219442544	p.Arg439Trp	missense variant	-	NC_000002.12:g.72132451G>A	gnomAD
rs763531942	p.Thr440Ile	missense variant	-	NC_000002.12:g.72132447G>A	ExAC,gnomAD
rs1319743439	p.Lys444Arg	missense variant	-	NC_000002.12:g.72132435T>C	gnomAD
rs775163285	p.His445Arg	missense variant	-	NC_000002.12:g.72132432T>C	ExAC,gnomAD
rs200419940	p.His445Gln	missense variant	-	NC_000002.12:g.72132431G>C	TOPMed,gnomAD
rs1176569814	p.Leu446Val	missense variant	-	NC_000002.12:g.72132430G>C	gnomAD
COSM477620	p.Phe450Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132416G>T	NCI-TCGA Cosmic
rs1394650857	p.Phe450Ser	missense variant	-	NC_000002.12:g.72132417A>G	gnomAD
rs1384758273	p.Leu451Pro	missense variant	-	NC_000002.12:g.72132414A>G	TOPMed
rs769295445	p.Val453Met	missense variant	-	NC_000002.12:g.72132409C>T	ExAC,gnomAD
rs769295445	p.Val453Leu	missense variant	-	NC_000002.12:g.72132409C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu454Met	missense variant	-	NC_000002.12:g.72132406G>T	NCI-TCGA
rs142523471	p.Ala455Val	missense variant	-	NC_000002.12:g.72132402G>A	ESP,TOPMed,gnomAD
rs776274383	p.Val456Met	missense variant	-	NC_000002.12:g.72132400C>T	ExAC,TOPMed,gnomAD
COSM721893	p.Val456Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132400C>A	NCI-TCGA Cosmic
rs776274383	p.Val456Leu	missense variant	-	NC_000002.12:g.72132400C>G	ExAC,TOPMed,gnomAD
rs1400525149	p.Val456Ala	missense variant	-	NC_000002.12:g.72132399A>G	TOPMed
rs779146812	p.Glu457Asp	missense variant	-	NC_000002.12:g.72132395C>A	ExAC,gnomAD
rs779146812	p.Glu457Asp	missense variant	-	NC_000002.12:g.72132395C>G	ExAC,gnomAD
rs746875435	p.Glu457Lys	missense variant	-	NC_000002.12:g.72132397C>T	ExAC,TOPMed,gnomAD
rs755059392	p.Leu458Arg	missense variant	-	NC_000002.12:g.72132393A>C	ExAC
rs1300724508	p.Ser460Gly	missense variant	-	NC_000002.12:g.72132388T>C	gnomAD
rs780364207	p.Ser460Ile	missense variant	-	NC_000002.12:g.72132387C>A	ExAC,gnomAD
rs756269775	p.Thr461Pro	missense variant	-	NC_000002.12:g.72132385T>G	ExAC,gnomAD
rs750860236	p.Ser462Thr	missense variant	-	NC_000002.12:g.72132381C>G	ExAC
COSM443177	p.Ser462Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132380G>C	NCI-TCGA Cosmic
COSM1306975	p.Ser462Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132382T>C	NCI-TCGA Cosmic
rs752009576	p.Arg463His	missense variant	-	NC_000002.12:g.72132378C>T	ExAC,TOPMed,gnomAD
rs201193616	p.Arg463Gly	missense variant	-	NC_000002.12:g.72132379G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201193616	p.Arg463Cys	missense variant	-	NC_000002.12:g.72132379G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM721894	p.Ala467Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132367C>A	NCI-TCGA Cosmic
rs762485791	p.Arg469Trp	missense variant	-	NC_000002.12:g.72132361G>A	ExAC,gnomAD
rs762485791	p.Arg469Gly	missense variant	-	NC_000002.12:g.72132361G>C	ExAC,gnomAD
rs774836618	p.Arg469Gln	missense variant	-	NC_000002.12:g.72132360C>T	ExAC,gnomAD
rs764995614	p.Phe471Leu	missense variant	-	NC_000002.12:g.72132353G>C	ExAC,TOPMed,gnomAD
rs764995614	p.Phe471Leu	missense variant	-	NC_000002.12:g.72132353G>T	ExAC,TOPMed,gnomAD
rs146011965	p.Pro472Ser	missense variant	-	NC_000002.12:g.72132352G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5562529	p.Pro472Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132351G>A	NCI-TCGA Cosmic
rs61751056	p.Arg473Cys	missense variant	-	NC_000002.12:g.72132349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61751056	p.Arg473Cys	missense variant	-	NC_000002.12:g.72132349G>A	UniProt,dbSNP
VAR_038728	p.Arg473Cys	missense variant	-	NC_000002.12:g.72132349G>A	UniProt
rs368475843	p.Arg473His	missense variant	-	NC_000002.12:g.72132348C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs61751056	p.Arg473Ser	missense variant	-	NC_000002.12:g.72132349G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368475843	p.Arg473Leu	missense variant	-	NC_000002.12:g.72132348C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773244226	p.Ile474Met	missense variant	-	NC_000002.12:g.72132344G>C	ExAC,TOPMed,gnomAD
rs999954899	p.Leu476Phe	missense variant	-	NC_000002.12:g.72132338C>G	gnomAD
COSM1022695	p.Val477Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132337C>T	NCI-TCGA Cosmic
rs200414575	p.Pro478Thr	missense variant	-	NC_000002.12:g.72132334G>T	1000Genomes,ExAC
rs148075682	p.Val479Phe	missense variant	-	NC_000002.12:g.72132331C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148075682	p.Val479Ile	missense variant	-	NC_000002.12:g.72132331C>T	UniProt,dbSNP
VAR_038729	p.Val479Ile	missense variant	-	NC_000002.12:g.72132331C>T	UniProt
rs148075682	p.Val479Ile	missense variant	-	NC_000002.12:g.72132331C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781553628	p.His481Gln	missense variant	-	NC_000002.12:g.72132323G>T	ExAC,TOPMed,gnomAD
rs79138418	p.Val483Met	missense variant	-	NC_000002.12:g.72132319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1224544142	p.Asp484Gly	missense variant	-	NC_000002.12:g.72132315T>C	gnomAD
rs778297204	p.Asp484Glu	missense variant	-	NC_000002.12:g.72132314A>C	ExAC,TOPMed,gnomAD
rs1313251968	p.Gly485Asp	missense variant	-	NC_000002.12:g.72132312C>T	gnomAD
rs1353314476	p.Ser487Asn	missense variant	-	NC_000002.12:g.72132306C>T	gnomAD
rs764651607	p.Val488Ile	missense variant	-	NC_000002.12:g.72132304C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe490Leu	missense variant	-	NC_000002.12:g.72132298A>G	NCI-TCGA
rs753411250	p.Phe491Cys	missense variant	-	NC_000002.12:g.72132294A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly492Val	missense variant	-	NC_000002.12:g.72132291C>A	NCI-TCGA
rs1216548054	p.Asp494Asn	missense variant	-	NC_000002.12:g.72132286C>T	gnomAD
rs943721142	p.Ser495Phe	missense variant	-	NC_000002.12:g.72132282G>A	TOPMed
rs773092721	p.Asn496Asp	missense variant	-	NC_000002.12:g.72132280T>C	ExAC,gnomAD
rs138558556	p.Gln497His	missense variant	-	NC_000002.12:g.72132275C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1475207350	p.Gln497Ter	stop gained	-	NC_000002.12:g.72132277G>A	gnomAD
rs140097862	p.Asn498Lys	missense variant	-	NC_000002.12:g.72132272G>T	ESP,ExAC,TOPMed,gnomAD
rs142056257	p.Glu499Lys	missense variant	-	NC_000002.12:g.72132271C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1249329697	p.Ile500Ser	missense variant	-	NC_000002.12:g.72132267A>C	TOPMed,gnomAD
rs1249329697	p.Ile500Thr	missense variant	-	NC_000002.12:g.72132267A>G	TOPMed,gnomAD
rs919489984	p.Leu501Pro	missense variant	-	NC_000002.12:g.72132264A>G	TOPMed
rs146447538	p.Pro502Thr	missense variant	-	NC_000002.12:g.72132262G>T	ESP,ExAC,TOPMed,gnomAD
rs375261360	p.Pro502Arg	missense variant	-	NC_000002.12:g.72132261G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro502Ser	missense variant	-	NC_000002.12:g.72132262G>A	NCI-TCGA
rs375261360	p.Pro502Leu	missense variant	-	NC_000002.12:g.72132261G>A	ESP,ExAC,TOPMed,gnomAD
rs202200784	p.Glu503Asp	missense variant	-	NC_000002.12:g.72132257C>A	ESP,ExAC,TOPMed,gnomAD
rs1328372634	p.Ala506Asp	missense variant	-	NC_000002.12:g.72132249G>T	TOPMed,gnomAD
rs1328372634	p.Ala506Val	missense variant	-	NC_000002.12:g.72132249G>A	TOPMed,gnomAD
rs1389948857	p.Met507Val	missense variant	-	NC_000002.12:g.72132247T>C	gnomAD
rs1294240501	p.Ser509Thr	missense variant	-	NC_000002.12:g.72132240C>G	TOPMed,gnomAD
rs1294240501	p.Ser509Asn	missense variant	-	NC_000002.12:g.72132240C>T	TOPMed,gnomAD
rs754415899	p.Ala510Thr	missense variant	-	NC_000002.12:g.72132238C>T	ExAC,TOPMed,gnomAD
rs1473083430	p.Thr511Ala	missense variant	-	NC_000002.12:g.72132235T>C	gnomAD
rs1179205871	p.Ter513Gln	stop lost	-	NC_000002.12:g.72132229A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003706	Arachnodactyly	disease	HPO
C0003850	Arteriosclerosis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0010278	Craniosynostosis	disease	BEFREE;GENOMICS_ENGLAND;HPO
C0010346	Crohn Disease	disease	BEFREE
C0014067	Occipital Encephalocele	disease	HPO
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0026636	Mouth Diseases	group	CTD_human
C0027819	Neuroblastoma	group	BEFREE
C0028754	Obesity	disease	CTD_human
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0036341	Schizophrenia	disease	BEFREE;GWASCAT;PSYGENET
C0221356	Brachycephaly	disease	HPO
C0235942	Abnormality of the skull	phenotype	HPO
C0279626	Squamous cell carcinoma of esophagus	disease	CTD_human
C0376634	Craniofacial Abnormalities	group	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C1863360	Radiohumeral synostosis of elbow	phenotype	HPO
C2930865	Ramer Ladda syndrome	disease	HPO
C3280729	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES	disease	CLINVAR;ORPHANET;UNIPROT
C3887496	Oligodactyly	disease	HPO
C4072823	Broad cranium shape	phenotype	HPO
C4072824	Wide skull shape	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000249	C-22 sterol desaturase activity	IBA
GO:0001972	retinoic acid binding	IDA
GO:0004497	monooxygenase activity	IBA
GO:0005506	iron ion binding	IEA
GO:0008401	retinoic acid 4-hydroxylase activity	IDA
GO:0016491	oxidoreductase activity	IBA
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IDA
GO:0020037	heme binding	NAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001709	cell fate determination	ISS
GO:0001768	establishment of T cell polarity	IEA
GO:0001822	kidney development	IEA
GO:0006696	ergosterol biosynthetic process	IBA
GO:0006766	vitamin metabolic process	TAS
GO:0006805	xenobiotic metabolic process	IDA
GO:0006954	inflammatory response	IEA
GO:0007140	male meiotic nuclear division	ISS
GO:0007283	spermatogenesis	ISS
GO:0009954	proximal/distal pattern formation	ISS
GO:0010628	positive regulation of gene expression	IEA
GO:0016125	sterol metabolic process	IBA
GO:0030326	embryonic limb morphogenesis	ISS
GO:0033189	response to vitamin A	IEA
GO:0034653	retinoic acid catabolic process	IDA
GO:0042573	retinoic acid metabolic process	IDA
GO:0043587	tongue morphogenesis	IEA
GO:0045580	regulation of T cell differentiation	IEA
GO:0048384	retinoic acid receptor signaling pathway	IEA
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	TAS
GO:0055114	oxidation-reduction process	IDA
GO:0055114	oxidation-reduction process	IBA
GO:0060349	bone morphogenesis	IMP
GO:0061436	establishment of skin barrier	IEA
GO:0070268	cornification	IEA
GO:0071300	cellular response to retinoic acid	IEA
GO:2001037	positive regulation of tongue muscle cell differentiation	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005789	endoplasmic reticulum membrane	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-211859	Biological oxidations	TAS
R-HSA-211897	Cytochrome P450 - arranged by substrate type	TAS
R-HSA-211916	Vitamins	TAS
R-HSA-211945	Phase I - Functionalization of compounds	TAS
R-HSA-5362517	Signaling by Retinoic Acid	TAS
R-HSA-5365859	RA biosynthesis pathway	TAS
R-HSA-5579015	Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	TAS
R-HSA-5579029	Metabolic disorders of biological oxidation enzymes	TAS
R-HSA-5668914	Diseases of metabolism	TAS
R-HSA-9006931	Signaling by Nuclear Receptors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in decreased expression of CYP26B1 mRNA	26377693
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of CYP26B1 mRNA	22698814; 28903501;
C055506	4-(diethylamino)benzaldehyde	4-(diethylamino)benzaldehyde inhibits the reaction [R 115866 results in decreased activity of CYP26B1 protein]	17164423
C019429	4-hydroxyretinoic acid	4-hydroxyretinoic acid affects the expression of CYP26B1 mRNA	16054125
C002202	4-oxoretinoic acid	4-oxoretinoic acid affects the expression of CYP26B1 mRNA	16054125
C521334	5-(4-dimethylaminobenzoyl)-aminovaleric acid hydroxamate	5-(4-dimethylaminobenzoyl)-aminovaleric acid hydroxamate affects the expression of CYP26B1 mRNA	20932894
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of CYP26B1 mRNA	22485181
C496492	abrine	abrine results in decreased expression of CYP26B1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of CYP26B1 mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of CYP26B1 mRNA	28959563
C006418	adrenocorticotropin zinc	adrenocorticotropin zinc results in increased expression of CYP26B1 mRNA	19920212
D000077556	Alitretinoin	Alitretinoin results in increased expression of CYP26B1 mRNA	30248606
D000077556	Alitretinoin	Alitretinoin results in increased expression of CYP26B1 mRNA	28689802
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of CYP26B1 mRNA	16483693
D001115	Arecoline	Arecoline results in decreased expression of CYP26B1 mRNA	17682004
D001151	Arsenic	Arsenic affects the methylation of CYP26B1 gene	25304211
D001151	Arsenic	Arsenic results in increased expression of CYP26B1 mRNA	19654921
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to CYP26B1 promoter]	19654925
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of CYP26B1 mRNA	21569818
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of CYP26B1 mRNA	27195522
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of CYP26B1 mRNA	26377693
D000077610	Bexarotene	Bexarotene results in increased expression of CYP26B1 mRNA	17849452
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of CYP26B1 mRNA	27685785
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of CYP26B1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of CYP26B1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of CYP26B1 mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased expression of CYP26B1 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of CYP26B1 mRNA	30951980
D002104	Cadmium	Cadmium results in decreased expression of CYP26B1 mRNA	19556237
D002117	Calcitriol	Calcitriol results in increased expression of CYP26B1 mRNA	16002434; 26485663;
D002166	Camptothecin	CYP26B1 mRNA results in decreased susceptibility to Camptothecin	25269479
D002737	Chloroprene	Chloroprene results in decreased expression of CYP26B1 mRNA	23125180
D004390	Chlorpyrifos	[Copper co-treated with Chlorpyrifos] results in decreased expression of CYP26B1 mRNA	21356183
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of CYP26B1 gene	20938992
D002945	Cisplatin	Cisplatin affects the expression of CYP26B1 mRNA	23300844
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of CYP26B1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of CYP26B1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of CYP26B1 mRNA	22023808
D003033	Coal Tar	Coal Tar results in decreased expression of CYP26B1 mRNA	27858113
D003042	Cocaine	CYP26B1 protein results in decreased susceptibility to Cocaine	27899881
D003300	Copper	[Copper co-treated with Chlorpyrifos] results in decreased expression of CYP26B1 mRNA	21356183
D003300	Copper	Copper results in decreased expression of CYP26B1 mRNA	21356183
D019327	Copper Sulfate	Copper Sulfate results in increased expression of CYP26B1 mRNA	19549813
C037304	cyhalothrin	cyhalothrin results in decreased expression of CYP26B1 mRNA	29727961
C093628	cyproconazole	cyproconazole results in increased expression of CYP26B1 mRNA	22045034
D000077209	Decitabine	Decitabine affects the expression of CYP26B1 mRNA	23300844
D003671	DEET	[fipronil co-treated with DEET] results in increased expression of CYP26B1 mRNA	27091632
D004041	Dietary Fats	Dietary Fats results in decreased expression of CYP26B1 mRNA	25016146
C014476	diethyl maleate	diethyl maleate results in decreased expression of CYP26B1 mRNA	21161181
D004237	Diuron	Diuron metabolite results in increased expression of CYP26B1 mRNA	24172598
C012301	domoic acid	domoic acid results in decreased expression of CYP26B1 mRNA	18936300
D004317	Doxorubicin	Doxorubicin results in decreased expression of CYP26B1 mRNA	29803840
D004726	Endosulfan	Endosulfan results in increased expression of CYP26B1 mRNA	29391264
D004958	Estradiol	Estradiol results in decreased expression of CYP26B1 mRNA	30248606
D004958	Estradiol	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of CYP26B1 mRNA	19619570
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of CYP26B1 mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of CYP26B1 mRNA	19619570
D000431	Ethanol	Ethanol results in increased expression of CYP26B1 mRNA	29361514
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of CYP26B1 mRNA	18936297
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of CYP26B1 mRNA	17557909
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of CYP26B1 mRNA	23129252
C024565	ethylene dichloride	ethylene dichloride results in increased expression of CYP26B1 mRNA	28189721
D017313	Fenretinide	Fenretinide results in increased expression of CYP26B1 mRNA	28973697
D017313	Fenretinide	Fenretinide results in increased expression of CYP26B1 mRNA	14592467
C082360	fipronil	[fipronil co-treated with DEET] results in increased expression of CYP26B1 mRNA	27091632
C082360	fipronil	fipronil results in increased expression of CYP26B1 mRNA	27091632
D015725	Fluconazole	Fluconazole results in increased expression of CYP26B1 mRNA	19429397
D005473	Fluoxetine	Fluoxetine results in decreased expression of CYP26B1 mRNA	17033635
C061365	flusilazole	flusilazole results in increased expression of CYP26B1 mRNA	28263823
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of CYP26B1 gene	20938992
C069837	fullerene C60	fullerene C60 results in decreased expression of CYP26B1 mRNA	19167457
C039281	furan	furan results in decreased methylation of CYP26B1 gene	27387713
C039281	furan	furan results in increased expression of CYP26B1 mRNA	25539665; 27387713;
C409722	hexaconazole	hexaconazole results in increased expression of CYP26B1 mRNA	22045034
C000625836	HFPO4 compound	HFPO4 compound results in increased expression of CYP26B1 mRNA	27553808
D007545	Isoproterenol	Isoproterenol results in decreased expression of CYP26B1 mRNA	20003209
D015474	Isotretinoin	Isotretinoin results in increased expression of CYP26B1 mRNA	17486130; 18769122;
D015474	Isotretinoin	R116010 promotes the reaction [Isotretinoin results in increased expression of CYP26B1 mRNA]	17486130
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of CYP26B1 mRNA	27392435
D007654	Ketoconazole	Ketoconazole inhibits the reaction [CYP26B1 protein results in increased metabolism of Tretinoin]	21906690
D007654	Ketoconazole	Ketoconazole inhibits the reaction [CYP26B1 results in increased metabolism of Tretinoin]	14532297
D007654	Ketoconazole	Ketoconazole results in decreased activity of CYP26B1	14532297
C011890	kojic acid	kojic acid results in increased expression of CYP26B1 mRNA	16595896
D019344	Lactic Acid	Lactic Acid results in decreased expression of CYP26B1 mRNA	30851411
D000077339	Leflunomide	Leflunomide results in decreased expression of CYP26B1 mRNA	19751817
D008070	Lipopolysaccharides	Lipopolysaccharides inhibits the reaction [Tretinoin results in increased expression of CYP26B1 mRNA]	17185629
D008345	Manganese	Manganese results in decreased expression of CYP26B1 mRNA	26745496
C025340	manganese chloride	manganese chloride results in decreased expression of CYP26B1 mRNA	26745496
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of CYP26B1 gene	20938992
D008731	Methoxychlor	Methoxychlor results in increased expression of CYP26B1 mRNA	23303685
D008731	Methoxychlor	Methoxychlor results in increased methylation of CYP26B1 gene	23303685
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of CYP26B1 mRNA	26011545
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of CYP26B1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of CYP26B1 mRNA	25620056
C007350	nitrofen	nitrofen results in decreased expression of CYP26B1 mRNA	17203325; 26720608;
D019301	Oleic Acid	[Palmitic Acid co-treated with Oleic Acid] results in increased expression of CYP26B1 mRNA	30547786
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of CYP26B1 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of CYP26B1 mRNA	25729387
D019308	Palmitic Acid	[Palmitic Acid co-treated with Oleic Acid] results in increased expression of CYP26B1 mRNA	30547786
D010269	Paraquat	Paraquat results in increased expression of CYP26B1 mRNA	21371552
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of CYP26B1 mRNA	27181905
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of CYP26B1 mRNA	23427857
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of CYP26B1 mRNA	28511854
C551178	PF-04254644	PF-04254644 affects the expression of CYP26B1 mRNA	22936366
D010634	Phenobarbital	Phenobarbital results in increased expression of CYP26B1 mRNA	22258563
D010634	Phenobarbital	Phenobarbital affects the expression of CYP26B1 mRNA	23091169
D010656	Phenylephrine	Phenylephrine results in increased expression of CYP26B1 mRNA	18158353
D010936	Plant Extracts	Plant Extracts inhibits the reaction [quinalphos results in decreased expression of CYP26B1 mRNA]	24581381
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of CYP26B1 mRNA	24780913; 25825206;
C012526	quercitrin	quercitrin results in increased expression of CYP26B1 mRNA	25193878
C009145	quinalphos	Plant Extracts inhibits the reaction [quinalphos results in decreased expression of CYP26B1 mRNA]	24581381
C009145	quinalphos	quinalphos results in decreased expression of CYP26B1 mRNA	24581381
C406527	R 115866	4-(diethylamino)benzaldehyde inhibits the reaction [R 115866 results in decreased activity of CYP26B1 protein]	17164423
C406527	R 115866	R 115866 results in decreased activity of CYP26B1 protein	17164423
C406527	R 115866	[R 115866 results in decreased activity of CYP26B1 protein] which results in increased activity of Tretinoin	20606468
C406527	R 115866	[R 115866 co-treated with Vitamin A] results in increased expression of CYP26B1 mRNA	17510468
C406527	R 115866	[R 115866 results in decreased activity of CYP26B1 protein] which results in increased abundance of Tretinoin	17510468
C406527	R 115866	R 115866 results in increased expression of CYP26B1 mRNA	17510468
C450682	R116010	R116010 promotes the reaction [Isotretinoin results in increased expression of CYP26B1 mRNA]	17486130
C450682	R116010	R116010 promotes the reaction [Tretinoin results in increased expression of CYP26B1 mRNA]	17486130
D020849	Raloxifene Hydrochloride	[Raloxifene Hydrochloride co-treated with ESR2 protein] results in decreased expression of CYP26B1 mRNA	19059307
D000077185	Resveratrol	[Resveratrol co-treated with Streptozocin] results in increased expression of CYP26B1 mRNA	25905778
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of CYP26B1 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of CYP26B1 mRNA	23806026
D012999	Soman	Soman results in increased expression of CYP26B1 mRNA	19281266
D053260	Soot	Soot affects the expression of CYP26B1 mRNA	26551751
D013311	Streptozocin	[Resveratrol co-treated with Streptozocin] results in increased expression of CYP26B1 mRNA	25905778
C016766	sulforafan	[NFE2L2 protein affects the susceptibility to sulforafan] which affects the expression of CYP26B1 mRNA	30529165
D000077210	Sunitinib	Sunitinib results in decreased expression of CYP26B1 mRNA	31533062
D013629	Tamoxifen	[Tamoxifen co-treated with ESR2 protein] results in decreased expression of CYP26B1 mRNA	19059307
D013629	Tamoxifen	Tamoxifen results in decreased expression of CYP26B1 mRNA	25123088
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CYP26B1 mRNA	16443690
D013749	Tetrachlorodibenzodioxin	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of CYP26B1 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CYP26B1 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CYP26B1 mRNA	23238561
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of CYP26B1 mRNA	28213091
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of CYP26B1 mRNA	19490992
C009495	titanium dioxide	titanium dioxide results in decreased expression of CYP26B1 mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in decreased expression of CYP26B1 mRNA	30012374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of CYP26B1 mRNA	20133372
D014050	Toluene	Toluene affects the expression of CYP26B1 mRNA	18653662
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of CYP26B1 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of CYP26B1 mRNA	25729387
D014212	Tretinoin	Tretinoin affects the expression of CYP26B1 mRNA	16054125
D014212	Tretinoin	Tretinoin affects the expression of CYP26B1 mRNA	17164423
D014212	Tretinoin	Tretinoin results in increased expression of CYP26B1 mRNA	18230668; 20530235; 30248606;
D014212	Tretinoin	CYP26B1 gene SNP results in decreased abundance of Tretinoin	29379198
D014212	Tretinoin	CYP26B1 protein affects the degradation of Tretinoin	16574820
D014212	Tretinoin	CYP26B1 protein binds to and results in increased metabolism of Tretinoin	21906690
D014212	Tretinoin	CYP26B1 protein results in decreased activity of Tretinoin	20606468
D014212	Tretinoin	CYP26B1 protein results in increased metabolism of and results in decreased abundance of Tretinoin	29379198
D014212	Tretinoin	CYP26B1 protein results in increased metabolism of Tretinoin	17486130
D014212	Tretinoin	CYP26B1 results in increased metabolism of Tretinoin	14532297
D014212	Tretinoin	Ketoconazole inhibits the reaction [CYP26B1 protein results in increased metabolism of Tretinoin]	21906690
D014212	Tretinoin	Ketoconazole inhibits the reaction [CYP26B1 results in increased metabolism of Tretinoin]	14532297
D014212	Tretinoin	[R 115866 results in decreased activity of CYP26B1 protein] which results in increased activity of Tretinoin	20606468
D014212	Tretinoin	R116010 promotes the reaction [Tretinoin results in increased expression of CYP26B1 mRNA]	17486130
D014212	Tretinoin	Tretinoin results in increased expression of CYP26B1 mRNA	17431108; 17486130; 20606468; 21934132; 23724009; 23830798;
D014212	Tretinoin	Tretinoin results in increased expression of CYP26B1 mRNA	16688765
D014212	Tretinoin	CYP26B1 protein results in increased degradation of Tretinoin	21138835; 27899881;
D014212	Tretinoin	Lipopolysaccharides inhibits the reaction [Tretinoin results in increased expression of CYP26B1 mRNA]	17185629
D014212	Tretinoin	[R 115866 results in decreased activity of CYP26B1 protein] which results in increased abundance of Tretinoin	17510468
D014212	Tretinoin	Tretinoin results in increased expression of CYP26B1 mRNA	14592467; 17185629; 17510468; 20488242; 21138835; 22262565;
D014212	Tretinoin	Tretinoin results in increased expression of CYP26B1 mRNA	28689802
D014212	Tretinoin	CYP26B1 protein results in increased degradation of Tretinoin	17510468
D014212	Tretinoin	CYP26B1 protein results in increased metabolism of and results in decreased activity of Tretinoin	16933217
D014212	Tretinoin	CYP26B1 protein results in increased metabolism of Tretinoin	21674038
C032910	triadimefon	triadimefon results in increased expression of CYP26B1 mRNA	24962053
D014241	Trichloroethylene	Trichloroethylene results in decreased expression of CYP26B1 mRNA	25549359
C012589	trichostatin A	trichostatin A results in decreased expression of CYP26B1 mRNA	15901671
C012589	trichostatin A	trichostatin A results in increased expression of CYP26B1 mRNA	24935251
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of CYP26B1 mRNA	19042947
D014635	Valproic Acid	Valproic Acid results in decreased expression of CYP26B1 mRNA	15901671
D014635	Valproic Acid	Valproic Acid results in increased expression of CYP26B1 mRNA	24383497; 28001369;
D014635	Valproic Acid	Valproic Acid affects the expression of CYP26B1 mRNA	17292431
D014635	Valproic Acid	Valproic Acid results in decreased expression of CYP26B1 mRNA	22045034
C025643	vinclozolin	vinclozolin results in increased expression of CYP26B1 mRNA	20566332
C017963	vinyl carbamate	vinyl carbamate results in decreased expression of CYP26B1 mRNA	17849452
D014801	Vitamin A	[R 115866 co-treated with Vitamin A] results in increased expression of CYP26B1 mRNA	17510468
C574123	walrycin A	walrycin A results in increased expression of CYP26B1 mRNA	22314385

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0989	Craniosynostosis
KW-0225	Disease mutation
KW-0256	Endoplasmic reticulum
KW-0349	Heme
KW-0408	Iron
KW-0472	Membrane
KW-0479	Metal-binding
KW-0492	Microsome
KW-0503	Monooxygenase
KW-0560	Oxidoreductase
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR001128	Cyt_P450
IPR017972	Cyt_P450_CS
IPR002403	Cyt_P450_E_grp-IV
IPR036396	Cyt_P450_sf

PROSITE

PROSITE ID	PROSITE Term
PS00086	CYTOCHROME_P450

Pfam

Pfam ID	Pfam Term
PF00067	p450

Gene: CYP26B1

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