CleftGeneDB-Search

Gene: BCO1

Basic information

Tag	Content
Uniprot ID	Q9HAY6; A0AV48; A0AV50; Q9NVH5;
Entrez ID	53630
Genbank protein ID	AAI26213.1; BAA91776.1; EAW95537.1; AAI26211.1; AAG15380.1;
Genbank nucleotide ID	NM_017429.2
Ensembl protein ID	ENSP00000258168
Ensembl nucleotide ID	ENSG00000135697
Gene name	Beta,beta-carotene 15,15'-dioxygenase
Gene symbol	BCO1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism.
Sequence	MDIIFGRNRK EQLEPVRAKV TGKIPAWLQG TLLRNGPGMH TVGESRYNHW FDGLALLHSF 60 TIRDGEVYYR SKYLRSDTYN TNIEANRIVV SEFGTMAYPD PCKNIFSKAF SYLSHTIPDF 120 TDNCLINIMK CGEDFYATSE TNYIRKINPQ TLETLEKVDY RKYVAVNLAT SHPHYDEAGN 180 VLNMGTSIVE KGKTKYVIFK IPATVPEGKK QGKSPWKHTE VFCSIPSRSL LSPSYYHSFG 240 VTENYVIFLE QPFRLDILKM ATAYIRRMSW ASCLAFHREE KTYIHIIDQR TRQPVQTKFY 300 TDAMVVFHHV NAYEEDGCIV FDVIAYEDNS LYQLFYLANL NQDFKENSRL TSVPTLRRFA 360 VPLHVDKNAE VGTNLIKVAS TTATALKEED GQVYCQPEFL YEGLELPRVN YAHNGKQYRY 420 VFATGVQWSP IPTKIIKYDI LTKSSLKWRE DDCWPAEPLF VPAPGAKDED DGVILSAIVS 480 TDPQKLPFLL ILDAKSFTEL ARASVDVDMH MDLHGLFITD MDWDTKKQAA SEEQRDRASD 540 CHGAPLT 547

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 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	BCO1	102179507	A0A452FQT3		Capra hircus	Prediction	More>>
1:1 ortholog	BCO1	53630	Q9HAY6		Homo sapiens	Prediction	More>>
1:1 ortholog	Bco1	63857	Q9JJS6	CPO	Mus musculus	Publication	More>>
1:1 ortholog	BCO1	468043	H2QBK9		Pan troglodytes	Prediction	More>>
1:1 ortholog	BCO1		A0A287BCU5		Sus scrofa	Prediction	More>>
1:1 ortholog	BCO1	100358087	G1SEP0		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Bco1	114106	G3V7N1		Rattus norvegicus	Prediction	More>>
1:1 ortholog	bco1	84039	Q7ZTS0		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs770370906	p.Ile3Val	missense variant	-	NC_000016.10:g.81238915A>G	ExAC,TOPMed,gnomAD
rs1311564026	p.Ile4Met	missense variant	-	NC_000016.10:g.81238920A>G	gnomAD
rs1457447196	p.Ile4Leu	missense variant	-	NC_000016.10:g.81238918A>C	TOPMed
rs764350135	p.Gly6Asp	missense variant	-	NC_000016.10:g.81238925G>A	ExAC,gnomAD
rs763179209	p.Gly6Ser	missense variant	-	NC_000016.10:g.81238924G>A	ExAC,gnomAD
rs746577332	p.Asn8Lys	missense variant	-	NC_000016.10:g.81238932T>A	ExAC,TOPMed,gnomAD
rs770468926	p.Arg9Ser	missense variant	-	NC_000016.10:g.81238935G>C	ExAC,TOPMed,gnomAD
rs1264701868	p.Arg9Lys	missense variant	-	NC_000016.10:g.81238934G>A	TOPMed
rs1458057207	p.Arg9Gly	missense variant	-	NC_000016.10:g.81238933A>G	TOPMed
rs756003443	p.Gln12Ter	stop gained	-	NC_000016.10:g.81238942C>T	ExAC,gnomAD
rs142824860	p.Glu14Gly	missense variant	-	NC_000016.10:g.81238949A>G	ESP,ExAC,TOPMed,gnomAD
rs928179301	p.Glu14Lys	missense variant	-	NC_000016.10:g.81238948G>A	TOPMed,gnomAD
rs928179301	p.Glu14Gln	missense variant	-	NC_000016.10:g.81238948G>C	TOPMed,gnomAD
rs1460850828	p.Pro15Ala	missense variant	-	NC_000016.10:g.81238951C>G	gnomAD
rs1460850828	p.Pro15Ser	missense variant	-	NC_000016.10:g.81238951C>T	gnomAD
rs1167537614	p.Pro15Leu	missense variant	-	NC_000016.10:g.81238952C>T	gnomAD
rs1406202429	p.Arg17Ser	missense variant	-	NC_000016.10:g.81238959G>T	TOPMed,gnomAD
rs146092611	p.Ala18Val	missense variant	-	NC_000016.10:g.81238961C>T	ESP,ExAC,TOPMed,gnomAD
rs1366749587	p.Lys19Ile	missense variant	-	NC_000016.10:g.81238964A>T	gnomAD
rs747820378	p.Val20Leu	missense variant	-	NC_000016.10:g.81238966G>C	ExAC,TOPMed,gnomAD
rs758117162	p.Thr21Arg	missense variant	-	NC_000016.10:g.81238970C>G	ExAC,TOPMed,gnomAD
rs759437372	p.Ile24Thr	missense variant	-	NC_000016.10:g.81245481T>C	ExAC,gnomAD
rs752187886	p.Trp27Arg	missense variant	-	NC_000016.10:g.81245489T>C	ExAC,gnomAD
COSM704644	p.Trp27Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.81245490G>A	NCI-TCGA Cosmic
COSM3512696	p.Gly30Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81245499G>A	NCI-TCGA Cosmic
rs372051322	p.Thr31Ile	missense variant	-	NC_000016.10:g.81245502C>T	ESP,ExAC,TOPMed,gnomAD
rs756913044	p.Leu32Val	missense variant	-	NC_000016.10:g.81245504C>G	ExAC,TOPMed,gnomAD
rs780538586	p.Leu33Phe	missense variant	-	NC_000016.10:g.81245507C>T	ExAC,gnomAD
rs201320081	p.Arg34Cys	missense variant	-	NC_000016.10:g.81245510C>T	NCI-TCGA,NCI-TCGA Cosmic
rs755530410	p.Arg34His	missense variant	-	NC_000016.10:g.81245511G>A	ExAC,TOPMed,gnomAD
rs201320081	p.Arg34Cys	missense variant	-	NC_000016.10:g.81245510C>T	1000Genomes,TOPMed,gnomAD
rs755530410	p.Arg34Leu	missense variant	-	NC_000016.10:g.81245511G>T	ExAC,TOPMed,gnomAD
rs905894692	p.Asn35Ser	missense variant	-	NC_000016.10:g.81245514A>G	TOPMed
rs772224825	p.Gly36Arg	missense variant	-	NC_000016.10:g.81245516G>A	ExAC,TOPMed,gnomAD
rs1425595008	p.Gly38Ala	missense variant	-	NC_000016.10:g.81245523G>C	gnomAD
NCI-TCGA novel	p.Met39Ile	missense variant	-	NC_000016.10:g.81245527G>A	NCI-TCGA
rs777809771	p.Val42Phe	missense variant	-	NC_000016.10:g.81245534G>T	ExAC,gnomAD
rs747232099	p.Val42Ala	missense variant	-	NC_000016.10:g.81245535T>C	ExAC,TOPMed,gnomAD
rs896361256	p.Glu44Asp	missense variant	-	NC_000016.10:g.81245542G>C	TOPMed,gnomAD
rs1333266032	p.Ser45Tyr	missense variant	-	NC_000016.10:g.81245544C>A	gnomAD
rs1386307274	p.Arg46Lys	missense variant	-	NC_000016.10:g.81245547G>A	gnomAD
rs1296317671	p.Tyr47His	missense variant	-	NC_000016.10:g.81245549T>C	gnomAD
rs1367983747	p.Asn48Lys	missense variant	-	NC_000016.10:g.81245554C>G	TOPMed,gnomAD
rs1367983747	p.Asn48Lys	missense variant	-	NC_000016.10:g.81245554C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn48His	missense variant	-	NC_000016.10:g.81245552A>C	NCI-TCGA
rs1269479360	p.His49Tyr	missense variant	-	NC_000016.10:g.81245555C>T	TOPMed
rs1358740191	p.His49Arg	missense variant	-	NC_000016.10:g.81245556A>G	gnomAD
rs771181325	p.Trp50Ter	stop gained	-	NC_000016.10:g.81245559G>A	ExAC,TOPMed,gnomAD
rs771181325	p.Trp50Leu	missense variant	-	NC_000016.10:g.81245559G>T	ExAC,TOPMed,gnomAD
rs776403869	p.Phe51Leu	missense variant	-	NC_000016.10:g.81245563C>G	ExAC,TOPMed,gnomAD
rs776403869	p.Phe51Leu	missense variant	-	NC_000016.10:g.81245563C>A	ExAC,TOPMed,gnomAD
rs775406463	p.Asp52Asn	missense variant	-	NC_000016.10:g.81245564G>A	ExAC,TOPMed,gnomAD
rs371593751	p.Gly53Val	missense variant	-	NC_000016.10:g.81245568G>T	ESP
rs1284429525	p.Gly53Ser	missense variant	-	NC_000016.10:g.81245567G>A	gnomAD
rs371593751	p.Gly53Val	missense variant	-	NC_000016.10:g.81245568G>T	NCI-TCGA
rs970446615	p.Leu56Val	missense variant	-	NC_000016.10:g.81245576C>G	TOPMed,gnomAD
rs761525134	p.Thr61Ser	missense variant	-	NC_000016.10:g.81245591A>T	ExAC,gnomAD
rs767339497	p.Ile62Phe	missense variant	-	NC_000016.10:g.81245594A>T	ExAC,gnomAD
rs1199541366	p.Arg63Ter	stop gained	-	NC_000016.10:g.81245597A>T	gnomAD
NCI-TCGA novel	p.Arg63Thr	missense variant	-	NC_000016.10:g.81245598G>C	NCI-TCGA
COSM6145339	p.Asp64Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81245601A>T	NCI-TCGA Cosmic
rs779898920	p.Gly65Asp	missense variant	-	NC_000016.10:g.81259676G>A	ExAC,gnomAD
rs201365652	p.Gly65Ser	missense variant	-	NC_000016.10:g.81245603G>A	ESP,ExAC,TOPMed,gnomAD
rs749097919	p.Glu66Ter	stop gained	-	NC_000016.10:g.81259678G>T	ExAC,TOPMed,gnomAD
rs749097919	p.Glu66Lys	missense variant	-	NC_000016.10:g.81259678G>A	ExAC,TOPMed,gnomAD
rs1230406249	p.Val67Ala	missense variant	-	NC_000016.10:g.81259682T>C	gnomAD
rs1310951145	p.Tyr68Cys	missense variant	-	NC_000016.10:g.81259685A>G	gnomAD
COSM1318551	p.Tyr69Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81259687T>G	NCI-TCGA Cosmic
rs747623587	p.Arg70Gly	missense variant	-	NC_000016.10:g.81259690A>G	ExAC,TOPMed,gnomAD
rs771730557	p.Arg70Ser	missense variant	-	NC_000016.10:g.81259692G>T	ExAC,TOPMed,gnomAD
rs747623587	p.Arg70Trp	missense variant	-	NC_000016.10:g.81259690A>T	ExAC,TOPMed,gnomAD
rs909766540	p.Arg75Lys	missense variant	-	NC_000016.10:g.81259706G>A	TOPMed,gnomAD
rs909766540	p.Arg75Thr	missense variant	-	NC_000016.10:g.81259706G>C	TOPMed,gnomAD
rs370221081	p.Ser76Arg	missense variant	-	NC_000016.10:g.81259710C>A	ESP,ExAC,TOPMed,gnomAD
rs370221081	p.Ser76Arg	missense variant	-	NC_000016.10:g.81259710C>G	ESP,ExAC,TOPMed,gnomAD
rs1474257186	p.Ser76Gly	missense variant	-	NC_000016.10:g.81259708A>G	TOPMed
rs1206529401	p.Asp77Gly	missense variant	-	NC_000016.10:g.81259712A>G	gnomAD
rs200423956	p.Asp77Tyr	missense variant	-	NC_000016.10:g.81259711G>T	ESP,ExAC,TOPMed,gnomAD
rs200423956	p.Asp77Asn	missense variant	-	NC_000016.10:g.81259711G>A	ESP,ExAC,TOPMed,gnomAD
rs200423956	p.Asp77His	missense variant	-	NC_000016.10:g.81259711G>C	ESP,ExAC,TOPMed,gnomAD
rs1206529401	p.Asp77Val	missense variant	-	NC_000016.10:g.81259712A>T	gnomAD
rs764591988	p.Thr78Ser	missense variant	-	NC_000016.10:g.81259715C>G	ExAC,gnomAD
rs1184407934	p.Asn80Thr	missense variant	-	NC_000016.10:g.81259721A>C	gnomAD
rs767559657	p.Thr81Ile	missense variant	-	NC_000016.10:g.81259724C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr81Ala	missense variant	-	NC_000016.10:g.81259723A>G	NCI-TCGA
rs750572177	p.Asn82Ser	missense variant	-	NC_000016.10:g.81259727A>G	ExAC,TOPMed,gnomAD
rs750572177	p.Asn82Ile	missense variant	-	NC_000016.10:g.81259727A>T	ExAC,TOPMed,gnomAD
rs1319211402	p.Ile83Thr	missense variant	-	NC_000016.10:g.81259730T>C	gnomAD
rs756317602	p.Ile83Val	missense variant	-	NC_000016.10:g.81259729A>G	ExAC,gnomAD
rs141547242	p.Asn86Lys	missense variant	-	NC_000016.10:g.81259740C>G	1000Genomes,ExAC,gnomAD
rs199858016	p.Arg87Lys	missense variant	-	NC_000016.10:g.81259742G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1280370472	p.Ile88Thr	missense variant	-	NC_000016.10:g.81259745T>C	TOPMed
NCI-TCGA novel	p.Val89Ala	missense variant	-	NC_000016.10:g.81259748T>C	NCI-TCGA
rs1279643052	p.Val90Leu	missense variant	-	NC_000016.10:g.81259750G>T	gnomAD
rs1247368705	p.Ser91Tyr	missense variant	-	NC_000016.10:g.81259754C>A	gnomAD
rs1374640322	p.Glu92Asp	missense variant	-	NC_000016.10:g.81259758G>C	TOPMed
rs778862007	p.Phe93Ser	missense variant	-	NC_000016.10:g.81259760T>C	ExAC,gnomAD
rs748077462	p.Thr95Lys	missense variant	-	NC_000016.10:g.81259766C>A	ExAC,gnomAD
rs748077462	p.Thr95Arg	missense variant	-	NC_000016.10:g.81259766C>G	ExAC,gnomAD
rs772176060	p.Met96Leu	missense variant	-	NC_000016.10:g.81259768A>C	ExAC,TOPMed,gnomAD
rs777417161	p.Met96Thr	missense variant	-	NC_000016.10:g.81259769T>C	ExAC,gnomAD
rs746573315	p.Pro99Leu	missense variant	-	NC_000016.10:g.81259778C>T	ExAC,TOPMed,gnomAD
rs746573315	p.Pro99Gln	missense variant	-	NC_000016.10:g.81259778C>A	ExAC,TOPMed,gnomAD
rs1440916483	p.Asp100Glu	missense variant	-	NC_000016.10:g.81259782C>A	gnomAD
rs1187173943	p.Cys102Tyr	missense variant	-	NC_000016.10:g.81259787G>A	gnomAD
rs776149387	p.Lys103Arg	missense variant	-	NC_000016.10:g.81259790A>G	ExAC,gnomAD
rs895983618	p.Ile105Val	missense variant	-	NC_000016.10:g.81259795A>G	TOPMed
rs1473634579	p.Ile105Met	missense variant	-	NC_000016.10:g.81259797A>G	gnomAD
rs1013066076	p.Phe106Val	missense variant	-	NC_000016.10:g.81259798T>G	TOPMed
NCI-TCGA novel	p.Ser107GlnPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.81259795_81259796AT>-	NCI-TCGA
COSM1709458	p.Ser107Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81259802C>T	NCI-TCGA Cosmic
rs199710262	p.Ala109Asp	missense variant	-	NC_000016.10:g.81262138C>A	ExAC,TOPMed,gnomAD
rs199710262	p.Ala109Gly	missense variant	-	NC_000016.10:g.81262138C>G	ExAC,TOPMed,gnomAD
rs766347639	p.Tyr112Ser	missense variant	-	NC_000016.10:g.81262147A>C	ExAC,gnomAD
rs1475121526	p.Leu113Phe	missense variant	-	NC_000016.10:g.81262151G>C	TOPMed
rs776813359	p.Ser114Cys	missense variant	-	NC_000016.10:g.81262153C>G	ExAC,gnomAD
NCI-TCGA novel	p.His115Asp	missense variant	-	NC_000016.10:g.81262155C>G	NCI-TCGA
rs752480679	p.Pro118Ser	missense variant	-	NC_000016.10:g.81262164C>T	ExAC,gnomAD
rs752480679	p.Pro118Thr	missense variant	-	NC_000016.10:g.81262164C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro118Leu	missense variant	-	NC_000016.10:g.81262165C>T	NCI-TCGA
rs764080372	p.Asp119Asn	missense variant	-	NC_000016.10:g.81262167G>A	ExAC,gnomAD
rs764080372	p.Asp119Tyr	missense variant	-	NC_000016.10:g.81262167G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp119His	missense variant	-	NC_000016.10:g.81262167G>C	NCI-TCGA
NCI-TCGA novel	p.Phe120Val	missense variant	-	NC_000016.10:g.81262170T>G	NCI-TCGA
rs912504653	p.Thr121Ala	missense variant	-	NC_000016.10:g.81262173A>G	gnomAD
rs780533156	p.Asp122Asn	missense variant	-	NC_000016.10:g.81262176G>A	ExAC
rs373346551	p.Asp122Gly	missense variant	-	NC_000016.10:g.81262177A>G	ESP,ExAC,TOPMed,gnomAD
rs376471797	p.Ile126Thr	missense variant	-	NC_000016.10:g.81262189T>C	ESP,ExAC,TOPMed,gnomAD
rs867803292	p.Ile128Val	missense variant	-	NC_000016.10:g.81262194A>G	TOPMed
rs867803292	p.Ile128Leu	missense variant	-	NC_000016.10:g.81262194A>C	TOPMed
rs1297196024	p.Met129Val	missense variant	-	NC_000016.10:g.81262197A>G	TOPMed,gnomAD
rs886153068	p.Lys130Thr	missense variant	-	NC_000016.10:g.81262201A>C	TOPMed
rs772450083	p.Gly132Arg	missense variant	-	NC_000016.10:g.81262206G>A	ExAC,TOPMed,gnomAD
rs746790957	p.Gly132Glu	missense variant	-	NC_000016.10:g.81262207G>A	TOPMed,gnomAD
rs1209690264	p.Glu133Lys	missense variant	-	NC_000016.10:g.81262209G>A	gnomAD
rs773618146	p.Phe135Val	missense variant	-	NC_000016.10:g.81262215T>G	ExAC,gnomAD
rs199834539	p.Tyr136Ter	stop gained	-	NC_000016.10:g.81262220C>G	ESP,ExAC,TOPMed,gnomAD
rs199834539	p.Tyr136Ter	stop gained	-	NC_000016.10:g.81262220C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr136His	missense variant	-	NC_000016.10:g.81262218T>C	NCI-TCGA
rs1046638346	p.Ala137Pro	missense variant	-	NC_000016.10:g.81262221G>C	TOPMed
rs200428274	p.Ala137Val	missense variant	-	NC_000016.10:g.81262222C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala137Thr	missense variant	-	NC_000016.10:g.81262221G>A	NCI-TCGA
rs370376971	p.Thr138Ala	missense variant	-	NC_000016.10:g.81262224A>G	ESP,ExAC,TOPMed,gnomAD
rs765487181	p.Thr141Ser	missense variant	-	NC_000016.10:g.81262233A>T	ExAC,gnomAD
rs775884304	p.Tyr143His	missense variant	-	NC_000016.10:g.81262239T>C	ExAC
rs201662228	p.Ile144Val	missense variant	-	NC_000016.10:g.81262242A>G	1000Genomes,ExAC,gnomAD
rs1386145787	p.Lys146Asn	missense variant	-	NC_000016.10:g.81262250A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ile147Met	missense variant	-	NC_000016.10:g.81262253C>G	NCI-TCGA
rs1434161074	p.Leu152Val	missense variant	-	NC_000016.10:g.81262266C>G	gnomAD
rs866662767	p.Glu153Lys	missense variant	-	NC_000016.10:g.81262269G>A	-
rs751408559	p.Glu153Ala	missense variant	-	NC_000016.10:g.81262270A>C	ExAC,TOPMed,gnomAD
rs757134025	p.Thr154Ile	missense variant	-	NC_000016.10:g.81262273C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu156Asp	missense variant	-	NC_000016.10:g.81262280G>T	NCI-TCGA
rs1203590205	p.Lys157Ter	stop gained	-	NC_000016.10:g.81262281A>T	TOPMed
rs1395125401	p.Val158Ile	missense variant	-	NC_000016.10:g.81264640G>A	TOPMed
NCI-TCGA novel	p.Asp159Glu	missense variant	-	NC_000016.10:g.81264645T>G	NCI-TCGA
rs1277432334	p.Tyr160Phe	missense variant	-	NC_000016.10:g.81264647A>T	gnomAD
rs147813781	p.Arg161Cys	missense variant	-	NC_000016.10:g.81264649C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs568154975	p.Arg161His	missense variant	-	NC_000016.10:g.81264650G>A	ExAC,TOPMed,gnomAD
rs764757293	p.Val164Met	missense variant	-	NC_000016.10:g.81264658G>A	ExAC,TOPMed,gnomAD
rs148919906	p.Ala165Val	missense variant	-	NC_000016.10:g.81264662C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139667928	p.Val166Ile	missense variant	-	NC_000016.10:g.81264664G>A	ESP,ExAC,TOPMed,gnomAD
rs1190411487	p.Asn167Ser	missense variant	-	NC_000016.10:g.81264668A>G	gnomAD
rs145127976	p.Ala169Gly	missense variant	-	NC_000016.10:g.81264674C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala169Val	missense variant	-	NC_000016.10:g.81264674C>T	NCI-TCGA
RCV000005038	p.Thr170Met	missense variant	Hypercarotenemia and vitamin a deficiency, autosomal dominant (HCVAD)	NC_000016.10:g.81264677C>T	ClinVar
rs1170790963	p.Thr170Pro	missense variant	-	NC_000016.10:g.81264676A>C	gnomAD
rs119478057	p.Thr170Met	missense variant	-	NC_000016.10:g.81264677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs119478057	p.Thr170Lys	missense variant	-	NC_000016.10:g.81264677C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1324730047	p.His172Arg	missense variant	-	NC_000016.10:g.81264683A>G	gnomAD
rs1347406661	p.His174Arg	missense variant	-	NC_000016.10:g.81264689A>G	TOPMed
rs778912655	p.Tyr175Phe	missense variant	-	NC_000016.10:g.81264692A>T	ExAC,TOPMed,gnomAD
rs143043516	p.Asp176Glu	missense variant	-	NC_000016.10:g.81264696T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs536329686	p.Ala178Pro	missense variant	-	NC_000016.10:g.81264700G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs371846416	p.Ala178Gly	missense variant	-	NC_000016.10:g.81264701C>G	ESP,ExAC,TOPMed,gnomAD
rs371846416	p.Ala178Val	missense variant	-	NC_000016.10:g.81264701C>T	ESP,ExAC,TOPMed,gnomAD
rs770786848	p.Gly179Arg	missense variant	-	NC_000016.10:g.81264703G>A	ExAC,gnomAD
rs1373235925	p.Asn180Ser	missense variant	-	NC_000016.10:g.81264707A>G	TOPMed
rs776579175	p.Val181Ile	missense variant	-	NC_000016.10:g.81264709G>A	ExAC,TOPMed,gnomAD
rs776579175	p.Val181Leu	missense variant	-	NC_000016.10:g.81264709G>C	ExAC,TOPMed,gnomAD
rs1248403052	p.Gly185Val	missense variant	-	NC_000016.10:g.81264722G>T	gnomAD
rs774899787	p.Thr186Ile	missense variant	-	NC_000016.10:g.81264725C>T	ExAC,gnomAD
rs762658812	p.Ser187Phe	missense variant	-	NC_000016.10:g.81264728C>T	ExAC,gnomAD
rs762658812	p.Ser187Tyr	missense variant	-	NC_000016.10:g.81264728C>A	ExAC,gnomAD
rs762658812	p.Ser187Cys	missense variant	-	NC_000016.10:g.81264728C>G	ExAC,gnomAD
rs1190728999	p.Ser187Ala	missense variant	-	NC_000016.10:g.81264727T>G	gnomAD
rs750755364	p.Ile188Leu	missense variant	-	NC_000016.10:g.81264730A>C	ExAC,gnomAD
rs151149493	p.Glu190Lys	missense variant	-	NC_000016.10:g.81264736G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1427194741	p.Lys191Asn	missense variant	-	NC_000016.10:g.81264741G>C	TOPMed
NCI-TCGA novel	p.Lys191ArgPheSerTerUnk	frameshift	-	NC_000016.10:g.81264737A>-	NCI-TCGA
rs1264545464	p.Lys193Ter	stop gained	-	NC_000016.10:g.81264745A>T	TOPMed
rs1404084100	p.Lys195Gln	missense variant	-	NC_000016.10:g.81264751A>C	gnomAD
rs145899743	p.Lys195Asn	missense variant	-	NC_000016.10:g.81264753G>C	ESP,ExAC,TOPMed,gnomAD
rs1325908245	p.Lys195Arg	missense variant	-	NC_000016.10:g.81264752A>G	gnomAD
NCI-TCGA novel	p.Lys195ThrPheSerTerUnk	frameshift	-	NC_000016.10:g.81264751_81264752insCGAT	NCI-TCGA
COSM704643	p.Lys195Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81264753G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr196ProPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.81264753_81264754insCCACAGAAGCACACCAGCTCCCTAAC	NCI-TCGA
rs779046372	p.Val197Met	missense variant	-	NC_000016.10:g.81264757G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val197Glu	missense variant	-	NC_000016.10:g.81264758T>A	NCI-TCGA
rs748236344	p.Ile198Leu	missense variant	-	NC_000016.10:g.81264760A>C	ExAC,TOPMed,gnomAD
rs113894835	p.Lys200Glu	missense variant	-	NC_000016.10:g.81264766A>G	ESP,ExAC,TOPMed,gnomAD
rs746764244	p.Ile201Thr	missense variant	-	NC_000016.10:g.81264770T>C	ExAC,gnomAD
rs776458742	p.Pro202Ser	missense variant	-	NC_000016.10:g.81264772C>T	ExAC,gnomAD
rs1450570614	p.Ala203Val	missense variant	-	NC_000016.10:g.81264776C>T	gnomAD
rs1466049907	p.Thr204Ile	missense variant	-	NC_000016.10:g.81264779C>T	gnomAD
rs200324875	p.Pro206Ala	missense variant	-	NC_000016.10:g.81264784C>G	1000Genomes,TOPMed,gnomAD
rs200324875	p.Pro206Ser	missense variant	-	NC_000016.10:g.81264784C>T	1000Genomes,TOPMed,gnomAD
rs769682221	p.Glu207Gln	missense variant	-	NC_000016.10:g.81264787G>C	ExAC,TOPMed,gnomAD
rs370084672	p.Lys209Glu	missense variant	-	NC_000016.10:g.81267913A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Lys209Asn	missense variant	-	NC_000016.10:g.81267915G>T	NCI-TCGA
rs1235177386	p.Gly212Arg	missense variant	-	NC_000016.10:g.81267922G>C	gnomAD
rs531421974	p.Gly212Val	missense variant	-	NC_000016.10:g.81267923G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1210503777	p.Lys213Arg	missense variant	-	NC_000016.10:g.81267926A>G	gnomAD
rs753165872	p.Trp216Ter	stop gained	-	NC_000016.10:g.81267935G>A	ExAC,gnomAD
rs1044944025	p.Thr219Arg	missense variant	-	NC_000016.10:g.81267944C>G	TOPMed
rs368008947	p.Glu220Gln	missense variant	-	NC_000016.10:g.81267946G>C	ESP,ExAC,gnomAD
rs368008947	p.Glu220Lys	missense variant	-	NC_000016.10:g.81267946G>A	ESP,ExAC,gnomAD
rs368008947	p.Glu220Ter	stop gained	-	NC_000016.10:g.81267946G>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Val221Glu	missense variant	-	NC_000016.10:g.81267950T>A	NCI-TCGA
rs1250460901	p.Phe222Leu	missense variant	-	NC_000016.10:g.81267954C>G	TOPMed,gnomAD
rs1250460901	p.Phe222Leu	missense variant	-	NC_000016.10:g.81267954C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Phe222Leu	missense variant	-	NC_000016.10:g.81267952T>C	NCI-TCGA
rs764128777	p.Cys223Phe	missense variant	-	NC_000016.10:g.81267956G>T	ExAC,TOPMed,gnomAD
rs764128777	p.Cys223Ser	missense variant	-	NC_000016.10:g.81267956G>C	ExAC,TOPMed,gnomAD
rs764128777	p.Cys223Tyr	missense variant	-	NC_000016.10:g.81267956G>A	ExAC,TOPMed,gnomAD
rs1179096219	p.Ile225Met	missense variant	-	NC_000016.10:g.81267963C>G	TOPMed
rs781402582	p.Pro226Leu	missense variant	-	NC_000016.10:g.81267965C>T	ExAC,TOPMed,gnomAD
rs562843128	p.Ser227Cys	missense variant	-	NC_000016.10:g.81267968C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs747676129	p.Arg228His	missense variant	-	NC_000016.10:g.81267971G>A	ExAC,TOPMed,gnomAD
rs143003259	p.Arg228Cys	missense variant	-	NC_000016.10:g.81267970C>T	ESP,ExAC,TOPMed,gnomAD
rs143003259	p.Arg228Ser	missense variant	-	NC_000016.10:g.81267970C>A	ESP,ExAC,TOPMed,gnomAD
rs200091655	p.Leu230Gln	missense variant	-	NC_000016.10:g.81267977T>A	ExAC,gnomAD
rs145049631	p.Leu231Phe	missense variant	-	NC_000016.10:g.81267979C>T	ESP,ExAC,TOPMed,gnomAD
rs145049631	p.Leu231Val	missense variant	-	NC_000016.10:g.81267979C>G	ESP,ExAC,TOPMed,gnomAD
rs138840753	p.Pro233Thr	missense variant	-	NC_000016.10:g.81267985C>A	ESP,ExAC,TOPMed,gnomAD
rs138840753	p.Pro233Ser	missense variant	-	NC_000016.10:g.81267985C>T	ESP,ExAC,TOPMed,gnomAD
rs1343356033	p.Ser234Gly	missense variant	-	NC_000016.10:g.81267988A>G	TOPMed
rs1009686915	p.Tyr235Cys	missense variant	-	NC_000016.10:g.81267992A>G	gnomAD
rs34746358	p.Tyr236Ser	missense variant	-	NC_000016.10:g.81267995A>C	ESP,ExAC,TOPMed,gnomAD
rs1304779014	p.Tyr236Asp	missense variant	-	NC_000016.10:g.81267994T>G	TOPMed
rs1212213618	p.His237Arg	missense variant	-	NC_000016.10:g.81267998A>G	gnomAD
rs761882293	p.Ser238Asn	missense variant	-	NC_000016.10:g.81268001G>A	ExAC,gnomAD
rs1188782826	p.Gly240Ter	stop gained	-	NC_000016.10:g.81268006G>T	TOPMed,gnomAD
rs149344514	p.Gly240Val	missense variant	-	NC_000016.10:g.81268007G>T	ESP,TOPMed,gnomAD
rs373571833	p.Val241Ile	missense variant	-	NC_000016.10:g.81268009G>A	ESP,ExAC,TOPMed,gnomAD
rs373571833	p.Val241Leu	missense variant	-	NC_000016.10:g.81268009G>C	ESP,ExAC,TOPMed,gnomAD
rs373571833	p.Val241Phe	missense variant	-	NC_000016.10:g.81268009G>T	ESP,ExAC,TOPMed,gnomAD
rs1459373189	p.Glu243Asp	missense variant	-	NC_000016.10:g.81268017G>C	TOPMed,gnomAD
rs766086270	p.Glu243Lys	missense variant	-	NC_000016.10:g.81268015G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu243Asp	missense variant	-	NC_000016.10:g.81268017G>T	NCI-TCGA
rs753728650	p.Tyr245His	missense variant	-	NC_000016.10:g.81268021T>C	ExAC,TOPMed,gnomAD
rs1029390527	p.Tyr245Ser	missense variant	-	NC_000016.10:g.81268022A>C	TOPMed
rs1435569117	p.Val246Leu	missense variant	-	NC_000016.10:g.81268024G>C	gnomAD
rs754905093	p.Ile247Phe	missense variant	-	NC_000016.10:g.81268027A>T	ExAC
rs1321416885	p.Leu249Phe	missense variant	-	NC_000016.10:g.81268033C>T	gnomAD
rs747623490	p.Gln251Glu	missense variant	-	NC_000016.10:g.81268039C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln251His	missense variant	-	NC_000016.10:g.81268041G>C	NCI-TCGA
rs758003404	p.Pro252Arg	missense variant	-	NC_000016.10:g.81268043C>G	ExAC,TOPMed,gnomAD
rs746609569	p.Asp256Tyr	missense variant	-	NC_000016.10:g.81268054G>T	ExAC,TOPMed,gnomAD
rs746609569	p.Asp256Asn	missense variant	-	NC_000016.10:g.81268054G>A	ExAC,TOPMed,gnomAD
rs770683611	p.Ile257Val	missense variant	-	NC_000016.10:g.81268057A>G	ExAC,gnomAD
COSM1479126	p.Lys259Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81268064A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met260Leu	missense variant	-	NC_000016.10:g.81268066A>C	NCI-TCGA
rs775699758	p.Ala261Val	missense variant	-	NC_000016.10:g.81268070C>T	ExAC,gnomAD
COSM974083	p.Ala261Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81268069G>A	NCI-TCGA Cosmic
rs373952238	p.Ala263Thr	missense variant	-	NC_000016.10:g.81268075G>A	ESP,ExAC,TOPMed,gnomAD
rs762358911	p.Tyr264Ser	missense variant	-	NC_000016.10:g.81268079A>C	ExAC,gnomAD
rs142844835	p.Arg266Gln	missense variant	-	NC_000016.10:g.81268085G>A	ESP,ExAC,TOPMed,gnomAD
rs148510879	p.Arg266Trp	missense variant	-	NC_000016.10:g.81268084C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12934922	p.Arg267Ser	missense variant	-	NC_000016.10:g.81268089A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1425087165	p.Arg267Lys	missense variant	-	NC_000016.10:g.81268088G>A	gnomAD
rs12934922	p.Arg267Ser	missense variant	-	NC_000016.10:g.81268089A>T	UniProt,dbSNP
VAR_048406	p.Arg267Ser	missense variant	-	NC_000016.10:g.81268089A>T	UniProt
rs1417118834	p.Trp270Cys	missense variant	-	NC_000016.10:g.81268098G>C	gnomAD
NCI-TCGA novel	p.Trp270Arg	missense variant	-	NC_000016.10:g.81268096T>C	NCI-TCGA
rs1437222620	p.Ala271Val	missense variant	-	NC_000016.10:g.81268100C>T	TOPMed
rs1161119082	p.Ser272Phe	missense variant	-	NC_000016.10:g.81268103C>T	TOPMed,gnomAD
rs754852032	p.Cys273Trp	missense variant	-	NC_000016.10:g.81268107C>G	ExAC,gnomAD
rs1335545819	p.Cys273Tyr	missense variant	-	NC_000016.10:g.81268106G>A	TOPMed
NCI-TCGA novel	p.Leu274Val	missense variant	-	NC_000016.10:g.81268108C>G	NCI-TCGA
rs758449542	p.Ala275Val	missense variant	-	NC_000016.10:g.81268112C>T	ExAC,gnomAD
rs752658399	p.Ala275Ser	missense variant	-	NC_000016.10:g.81268111G>T	ExAC,TOPMed,gnomAD
rs758449542	p.Ala275Asp	missense variant	-	NC_000016.10:g.81268112C>A	ExAC,gnomAD
rs752658399	p.Ala275Thr	missense variant	-	NC_000016.10:g.81268111G>A	ExAC,TOPMed,gnomAD
rs777142346	p.Phe276Leu	missense variant	-	NC_000016.10:g.81268116C>G	ExAC,gnomAD
rs1270405772	p.Arg278Gly	missense variant	-	NC_000016.10:g.81268120A>G	gnomAD
rs1315544963	p.Glu280Lys	missense variant	-	NC_000016.10:g.81268126G>A	TOPMed,gnomAD
rs1256247702	p.Lys281Asn	missense variant	-	NC_000016.10:g.81268131G>T	gnomAD
rs1256247702	p.Lys281Asn	missense variant	-	NC_000016.10:g.81268131G>C	gnomAD
rs1465380813	p.Tyr283Cys	missense variant	-	NC_000016.10:g.81270163A>G	TOPMed,gnomAD
COSM435829	p.Tyr283Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.81270164T>A	NCI-TCGA Cosmic
rs371894990	p.Ile284Val	missense variant	-	NC_000016.10:g.81270165A>G	ESP,ExAC,TOPMed,gnomAD
rs1417922546	p.His285Arg	missense variant	-	NC_000016.10:g.81270169A>G	TOPMed
rs911831366	p.His285Tyr	missense variant	-	NC_000016.10:g.81270168C>T	TOPMed,gnomAD
rs911831366	p.His285Asp	missense variant	-	NC_000016.10:g.81270168C>G	TOPMed,gnomAD
rs1231587352	p.Ile286Val	missense variant	-	NC_000016.10:g.81270171A>G	gnomAD
rs747012263	p.Ile287Met	missense variant	-	NC_000016.10:g.81270176C>G	ExAC,gnomAD
rs373911986	p.Asp288Glu	missense variant	-	NC_000016.10:g.81270179C>A	ESP,ExAC,TOPMed,gnomAD
rs776889148	p.Asp288Ala	missense variant	-	NC_000016.10:g.81270178A>C	ExAC,gnomAD
rs139655280	p.Asp288Asn	missense variant	-	NC_000016.10:g.81270177G>A	ESP,ExAC,TOPMed,gnomAD
rs145265153	p.Gln289Glu	missense variant	-	NC_000016.10:g.81270180C>G	ESP,ExAC,TOPMed,gnomAD
rs1222272747	p.Arg290Lys	missense variant	-	NC_000016.10:g.81270184G>A	gnomAD
rs1271451898	p.Arg292Lys	missense variant	-	NC_000016.10:g.81270190G>A	TOPMed
rs763897086	p.Pro294Leu	missense variant	-	NC_000016.10:g.81270196C>T	ExAC,TOPMed,gnomAD
rs751535643	p.Val295Met	missense variant	-	NC_000016.10:g.81270198G>A	ExAC,gnomAD
rs761703330	p.Val295Ala	missense variant	-	NC_000016.10:g.81270199T>C	ExAC,gnomAD
rs751535643	p.Val295Leu	missense variant	-	NC_000016.10:g.81270198G>T	ExAC,gnomAD
rs1335199761	p.Gln296Ter	stop gained	-	NC_000016.10:g.81270201C>T	TOPMed
rs767012049	p.Gln296His	missense variant	-	NC_000016.10:g.81270203G>C	ExAC,TOPMed,gnomAD
rs1259994460	p.Gln296Arg	missense variant	-	NC_000016.10:g.81270202A>G	TOPMed
rs767012049	p.Gln296His	missense variant	-	NC_000016.10:g.81270203G>T	ExAC,TOPMed,gnomAD
rs749993915	p.Thr297Ala	missense variant	-	NC_000016.10:g.81270204A>G	ExAC,gnomAD
rs779685560	p.Phe299Val	missense variant	-	NC_000016.10:g.81270210T>G	ExAC,gnomAD
rs758817028	p.Ala303Thr	missense variant	-	NC_000016.10:g.81270222G>A	ExAC,gnomAD
rs1365511380	p.Met304Ile	missense variant	-	NC_000016.10:g.81270227G>C	gnomAD
rs1324721528	p.Met304Thr	missense variant	-	NC_000016.10:g.81270226T>C	gnomAD
rs1365511380	p.Met304Ile	missense variant	-	NC_000016.10:g.81270227G>T	gnomAD
rs546502921	p.Phe307Leu	missense variant	-	NC_000016.10:g.81270236C>A	1000Genomes
rs1368181098	p.Phe307Ser	missense variant	-	NC_000016.10:g.81270235T>C	TOPMed
rs1327480490	p.His308Asp	missense variant	-	NC_000016.10:g.81270237C>G	TOPMed
rs778051988	p.His309Asp	missense variant	-	NC_000016.10:g.81270240C>G	ExAC,gnomAD
rs139501868	p.His309Gln	missense variant	-	NC_000016.10:g.81270242C>A	ESP,ExAC,TOPMed,gnomAD
rs781405260	p.Val310Ile	missense variant	-	NC_000016.10:g.81270243G>A	ExAC,TOPMed,gnomAD
rs1291958653	p.Asn311Ile	missense variant	-	NC_000016.10:g.81270247A>T	gnomAD
NCI-TCGA novel	p.Asn311Thr	missense variant	-	NC_000016.10:g.81270247A>C	NCI-TCGA
rs149697391	p.Ala312Gly	missense variant	-	NC_000016.10:g.81270250C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770074943	p.Ala312Thr	missense variant	-	NC_000016.10:g.81270249G>A	ExAC,TOPMed,gnomAD
rs1465495836	p.Tyr313Cys	missense variant	-	NC_000016.10:g.81270253A>G	gnomAD
rs535639302	p.Glu314Lys	missense variant	-	NC_000016.10:g.81270255G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749961967	p.Asp316Tyr	missense variant	-	NC_000016.10:g.81270261G>T	ExAC,gnomAD
rs767457543	p.Gly317Ser	missense variant	-	NC_000016.10:g.81270264G>A	ExAC,gnomAD
rs145438816	p.Gly317Asp	missense variant	-	NC_000016.10:g.81270265G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs957543256	p.Cys318Ser	missense variant	-	NC_000016.10:g.81270268G>C	TOPMed
rs957543256	p.Cys318Tyr	missense variant	-	NC_000016.10:g.81270268G>A	TOPMed
rs1325297727	p.Val320Glu	missense variant	-	NC_000016.10:g.81270274T>A	gnomAD
rs570126506	p.Val320Met	missense variant	-	NC_000016.10:g.81270273G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs148824103	p.Val323Ile	missense variant	-	NC_000016.10:g.81270282G>A	ESP,ExAC,TOPMed,gnomAD
rs144501132	p.Ile324Val	missense variant	-	NC_000016.10:g.81270285A>G	ESP,ExAC,TOPMed,gnomAD
rs141202792	p.Ile324Thr	missense variant	-	NC_000016.10:g.81270286T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs572933939	p.Glu327Lys	missense variant	-	NC_000016.10:g.81270294G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1330029626	p.Asp328Asn	missense variant	-	NC_000016.10:g.81270297G>A	gnomAD
rs77264642	p.Asn329Thr	missense variant	-	NC_000016.10:g.81270301A>C	ExAC,gnomAD
rs920475663	p.Asn329His	missense variant	-	NC_000016.10:g.81270300A>C	TOPMed,gnomAD
rs920475663	p.Asn329Asp	missense variant	-	NC_000016.10:g.81270300A>G	TOPMed,gnomAD
rs768820868	p.Ser330Arg	missense variant	-	NC_000016.10:g.81270305C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser330Ile	missense variant	-	NC_000016.10:g.81270304G>T	NCI-TCGA
NCI-TCGA novel	p.Ser330Arg	missense variant	-	NC_000016.10:g.81270303A>C	NCI-TCGA
rs774139831	p.Leu331Phe	missense variant	-	NC_000016.10:g.81270306C>T	ExAC,gnomAD
rs747900683	p.Tyr332Cys	missense variant	-	NC_000016.10:g.81270310A>G	ExAC,gnomAD
rs1413149969	p.Gln333Glu	missense variant	-	NC_000016.10:g.81270312C>G	TOPMed,gnomAD
rs1413149969	p.Gln333Ter	stop gained	-	NC_000016.10:g.81270312C>T	TOPMed,gnomAD
rs773159889	p.Leu334Val	missense variant	-	NC_000016.10:g.81270315C>G	ExAC,TOPMed,gnomAD
rs1414496200	p.Phe335Ser	missense variant	-	NC_000016.10:g.81270319T>C	gnomAD
COSM1302279	p.Phe335Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81270320C>G	NCI-TCGA Cosmic
rs1372676499	p.Tyr336Asn	missense variant	-	NC_000016.10:g.81270321T>A	TOPMed
rs776073789	p.Tyr336Ser	missense variant	-	NC_000016.10:g.81270322A>C	ExAC,TOPMed,gnomAD
rs776073789	p.Tyr336Phe	missense variant	-	NC_000016.10:g.81270322A>T	ExAC,TOPMed,gnomAD
rs1414090246	p.Ala338Val	missense variant	-	NC_000016.10:g.81270328C>T	gnomAD
COSM3512706	p.Asn339Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81270331A>G	NCI-TCGA Cosmic
rs1288977521	p.Asn341Lys	missense variant	-	NC_000016.10:g.81270338C>G	gnomAD
rs545815843	p.Gln342Glu	missense variant	-	NC_000016.10:g.81270339C>G	ExAC,gnomAD
COSM3512707	p.Asp343Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81270342G>A	NCI-TCGA Cosmic
rs764808400	p.Phe344Val	missense variant	-	NC_000016.10:g.81270345T>G	ExAC,gnomAD
rs375079645	p.Lys345Asn	missense variant	-	NC_000016.10:g.81270350G>C	ESP,ExAC,TOPMed,gnomAD
rs1187223890	p.Glu346Lys	missense variant	-	NC_000016.10:g.81270351G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu346Gln	missense variant	-	NC_000016.10:g.81270351G>C	NCI-TCGA
rs1282403809	p.Asn347Ile	missense variant	-	NC_000016.10:g.81270355A>T	TOPMed
rs756724798	p.Arg349Gly	missense variant	-	NC_000016.10:g.81270360A>G	ExAC,TOPMed,gnomAD
rs1484768355	p.Arg349Met	missense variant	-	NC_000016.10:g.81270361G>T	gnomAD
rs902862596	p.Leu350Phe	missense variant	-	NC_000016.10:g.81270363C>T	TOPMed,gnomAD
rs749341872	p.Thr351Asn	missense variant	-	NC_000016.10:g.81270367C>A	ExAC,TOPMed,gnomAD
rs1180140180	p.Ser352Leu	missense variant	-	NC_000016.10:g.81270370C>T	gnomAD
rs1478135186	p.Val353Phe	missense variant	-	NC_000016.10:g.81270372G>T	gnomAD
rs1392709380	p.Pro354Leu	missense variant	-	NC_000016.10:g.81270376C>T	gnomAD
COSM3512709	p.Pro354Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81270375C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr355Ala	missense variant	-	NC_000016.10:g.81270378A>G	NCI-TCGA
rs267604656	p.Leu356Phe	missense variant	-	NC_000016.10:g.81270381C>T	gnomAD
rs771835453	p.Leu356His	missense variant	-	NC_000016.10:g.81270382T>A	ExAC,gnomAD
rs771835453	p.Leu356Pro	missense variant	-	NC_000016.10:g.81270382T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu356Ile	missense variant	-	NC_000016.10:g.81270381C>A	NCI-TCGA
rs773033355	p.Arg357Ser	missense variant	-	NC_000016.10:g.81270386G>T	ExAC,gnomAD
rs746947911	p.Arg358Lys	missense variant	-	NC_000016.10:g.81270388G>A	ExAC,TOPMed,gnomAD
rs758970284	p.Val361Met	missense variant	-	NC_000016.10:g.81270396G>A	ExAC,TOPMed,gnomAD
rs372190931	p.Val361Ala	missense variant	-	NC_000016.10:g.81270397T>C	ESP,ExAC,gnomAD
rs758970284	p.Val361Leu	missense variant	-	NC_000016.10:g.81270396G>C	ExAC,TOPMed,gnomAD
rs1345739402	p.Leu363Phe	missense variant	-	NC_000016.10:g.81270402C>T	gnomAD
NCI-TCGA novel	p.Leu363SerPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.81270399C>-	NCI-TCGA
rs1252357610	p.His364Asp	missense variant	-	NC_000016.10:g.81270405C>G	gnomAD
rs376838072	p.Val365Met	missense variant	-	NC_000016.10:g.81270408G>A	ESP,ExAC,TOPMed,gnomAD
rs1250255265	p.Asp366Gly	missense variant	-	NC_000016.10:g.81270412A>G	gnomAD
NCI-TCGA novel	p.Asp366Asn	missense variant	-	NC_000016.10:g.81270411G>A	NCI-TCGA
rs1008324951	p.Lys367Thr	missense variant	-	NC_000016.10:g.81270415A>C	TOPMed
rs1008324951	p.Lys367Arg	missense variant	-	NC_000016.10:g.81270415A>G	TOPMed
rs1198889098	p.Asn368Lys	missense variant	-	NC_000016.10:g.81280859T>A	gnomAD
rs760132973	p.Ala369Gly	missense variant	-	NC_000016.10:g.81280861C>G	ExAC,gnomAD
rs765230331	p.Glu370Ala	missense variant	-	NC_000016.10:g.81280864A>C	ExAC,gnomAD
rs1379310235	p.Glu370Gln	missense variant	-	NC_000016.10:g.81280863G>C	gnomAD
rs375301674	p.Val371Leu	missense variant	-	NC_000016.10:g.81280866G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs375301674	p.Val371Met	missense variant	-	NC_000016.10:g.81280866G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs140479675	p.Thr373Ala	missense variant	-	NC_000016.10:g.81280872A>G	ESP,ExAC,TOPMed,gnomAD
rs777973552	p.Asn374His	missense variant	-	NC_000016.10:g.81280875A>C	ExAC,TOPMed,gnomAD
rs1419979074	p.Lys377Asn	missense variant	-	NC_000016.10:g.81280886A>C	TOPMed
rs1459655694	p.Lys377Arg	missense variant	-	NC_000016.10:g.81280885A>G	TOPMed
rs1356684176	p.Lys377Ter	stop gained	-	NC_000016.10:g.81280884A>T	gnomAD
rs7501331	p.Ala379Val	missense variant	-	NC_000016.10:g.81280891C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751311880	p.Ala379Ser	missense variant	-	NC_000016.10:g.81280890G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser380Cys	missense variant	-	NC_000016.10:g.81280894C>G	NCI-TCGA
rs781089493	p.Thr381Ala	missense variant	-	NC_000016.10:g.81280896A>G	ExAC,TOPMed,gnomAD
rs888549373	p.Thr381Arg	missense variant	-	NC_000016.10:g.81280897C>G	TOPMed,gnomAD
rs745761600	p.Thr382Ile	missense variant	-	NC_000016.10:g.81280900C>T	ExAC,gnomAD
rs1262132285	p.Thr382Ala	missense variant	-	NC_000016.10:g.81280899A>G	gnomAD
rs779053226	p.Thr384Met	missense variant	-	NC_000016.10:g.81280906C>T	ExAC,TOPMed,gnomAD
rs1476130491	p.Ala385Asp	missense variant	-	NC_000016.10:g.81280909C>A	TOPMed,gnomAD
rs1185804692	p.Lys387Ter	stop gained	-	NC_000016.10:g.81280914A>T	TOPMed,gnomAD
rs1277923022	p.Glu388Lys	missense variant	-	NC_000016.10:g.81280917G>A	TOPMed
rs774169999	p.Glu389Gln	missense variant	-	NC_000016.10:g.81280920G>C	ExAC,TOPMed,gnomAD
rs370178723	p.Gln392Glu	missense variant	-	NC_000016.10:g.81280929C>G	ESP,ExAC
rs1347211910	p.Val393Ala	missense variant	-	NC_000016.10:g.81280933T>C	TOPMed,gnomAD
rs1438472025	p.Tyr394His	missense variant	-	NC_000016.10:g.81280935T>C	TOPMed
rs771171844	p.Cys395Arg	missense variant	-	NC_000016.10:g.81280938T>C	ExAC,TOPMed,gnomAD
rs759949907	p.Cys395Ter	stop gained	-	NC_000016.10:g.81280940C>A	ExAC,TOPMed,gnomAD
rs771171844	p.Cys395Gly	missense variant	-	NC_000016.10:g.81280938T>G	ExAC,TOPMed,gnomAD
rs777124692	p.Cys395Phe	missense variant	-	NC_000016.10:g.81280939G>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu398Asp	missense variant	-	NC_000016.10:g.81280949A>C	NCI-TCGA
rs1405692032	p.Phe399Cys	missense variant	-	NC_000016.10:g.81280951T>G	TOPMed
rs775477981	p.Leu400Val	missense variant	-	NC_000016.10:g.81280953C>G	ExAC,TOPMed,gnomAD
rs1005564682	p.Tyr401His	missense variant	-	NC_000016.10:g.81280956T>C	TOPMed
rs763049247	p.Glu402Ala	missense variant	-	NC_000016.10:g.81280960A>C	ExAC,TOPMed,gnomAD
rs766662649	p.Glu402Asp	missense variant	-	NC_000016.10:g.81280961A>T	TOPMed
rs368261768	p.Arg408Trp	missense variant	-	NC_000016.10:g.81285554C>T	ESP,ExAC,TOPMed,gnomAD
rs200527924	p.Arg408Gln	missense variant	-	NC_000016.10:g.81285555G>A	TOPMed,gnomAD
rs965295686	p.Val409Ile	missense variant	-	NC_000016.10:g.81285557G>A	TOPMed
rs757924558	p.Val409Asp	missense variant	-	NC_000016.10:g.81285558T>A	ExAC,gnomAD
rs1302022865	p.Asn410Ser	missense variant	-	NC_000016.10:g.81285561A>G	TOPMed,gnomAD
rs1270810593	p.Asn414His	missense variant	-	NC_000016.10:g.81285572A>C	gnomAD
rs1451131360	p.Gly415Arg	missense variant	-	NC_000016.10:g.81285575G>A	gnomAD
rs1202705823	p.Lys416Gln	missense variant	-	NC_000016.10:g.81285578A>C	TOPMed
rs920963812	p.Arg419Ter	stop gained	-	NC_000016.10:g.81285587C>T	TOPMed,gnomAD
rs372527154	p.Arg419Gln	missense variant	-	NC_000016.10:g.81285588G>A	ESP,ExAC,TOPMed,gnomAD
rs372527154	p.Arg419Leu	missense variant	-	NC_000016.10:g.81285588G>T	ESP,ExAC,TOPMed,gnomAD
rs375802934	p.Phe422Tyr	missense variant	-	NC_000016.10:g.81285597T>A	ESP
rs1192063354	p.Ala423Thr	missense variant	-	NC_000016.10:g.81285599G>A	TOPMed,gnomAD
rs746168176	p.Ala423Val	missense variant	-	NC_000016.10:g.81285600C>T	ExAC,gnomAD
rs1188736466	p.Val426Gly	missense variant	-	NC_000016.10:g.81285609T>G	gnomAD
rs780433756	p.Gln427Arg	missense variant	-	NC_000016.10:g.81285612A>G	ExAC,TOPMed,gnomAD
rs749790044	p.Gln427His	missense variant	-	NC_000016.10:g.81285613G>T	ExAC,gnomAD
rs769208141	p.Trp428Gly	missense variant	-	NC_000016.10:g.81285614T>G	ExAC,gnomAD
rs564100060	p.Ser429Asn	missense variant	-	NC_000016.10:g.81285618G>A	1000Genomes,ExAC,gnomAD
rs564100060	p.Ser429Thr	missense variant	-	NC_000016.10:g.81285618G>C	1000Genomes,ExAC,gnomAD
COSM3889042	p.Pro430Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81285621C>T	NCI-TCGA Cosmic
rs1459543837	p.Ile431Val	missense variant	-	NC_000016.10:g.81285623A>G	gnomAD
rs760969522	p.Ile435Leu	missense variant	-	NC_000016.10:g.81287295A>T	ExAC,TOPMed,gnomAD
rs760969522	p.Ile435Val	missense variant	-	NC_000016.10:g.81287295A>G	ExAC,TOPMed,gnomAD
rs776504532	p.Ile436Lys	missense variant	-	NC_000016.10:g.81287299T>A	ExAC,gnomAD
rs1388641693	p.Ile436Met	missense variant	-	NC_000016.10:g.81287300A>G	TOPMed,gnomAD
rs1364785681	p.Leu441Pro	missense variant	-	NC_000016.10:g.81287314T>C	gnomAD
rs755750511	p.Lys443Glu	missense variant	-	NC_000016.10:g.81287319A>G	ExAC,TOPMed,gnomAD
rs373464064	p.Ser444Pro	missense variant	-	NC_000016.10:g.81287322T>C	ESP,ExAC,TOPMed,gnomAD
rs1379097031	p.Trp448Arg	missense variant	-	NC_000016.10:g.81287334T>C	gnomAD
NCI-TCGA novel	p.Trp448Ter	stop gained	-	NC_000016.10:g.81287336G>A	NCI-TCGA
rs763651894	p.Arg449Ile	missense variant	-	NC_000016.10:g.81287338G>T	ExAC
NCI-TCGA novel	p.Glu450Ter	stop gained	-	NC_000016.10:g.81287340G>T	NCI-TCGA
rs1356326722	p.Asp451Asn	missense variant	-	NC_000016.10:g.81287343G>A	TOPMed
rs756844444	p.Asp451Glu	missense variant	-	NC_000016.10:g.81287345C>A	ExAC,TOPMed,gnomAD
rs1337378796	p.Asp452Glu	missense variant	-	NC_000016.10:g.81287348C>A	gnomAD
rs754153507	p.Asp452Asn	missense variant	-	NC_000016.10:g.81287346G>A	ExAC,gnomAD
rs143876304	p.Asp452Gly	missense variant	-	NC_000016.10:g.81287347A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Trp454Ter	stop gained	-	NC_000016.10:g.81287353G>A	NCI-TCGA
rs779680407	p.Ala456Val	missense variant	-	NC_000016.10:g.81287359C>T	gnomAD
COSM4897603	p.Ala456Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81287359C>G	NCI-TCGA Cosmic
COSM6145338	p.Glu457Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81287361G>A	NCI-TCGA Cosmic
rs1367916145	p.Pro458Leu	missense variant	-	NC_000016.10:g.81287365C>T	TOPMed,gnomAD
rs758890015	p.Pro458Thr	missense variant	-	NC_000016.10:g.81287364C>A	ExAC,TOPMed,gnomAD
rs758890015	p.Pro458Ser	missense variant	-	NC_000016.10:g.81287364C>T	ExAC,TOPMed,gnomAD
rs777855496	p.Leu459Pro	missense variant	-	NC_000016.10:g.81287368T>C	ExAC,gnomAD
rs747094348	p.Phe460Leu	missense variant	-	NC_000016.10:g.81287372T>A	ExAC,gnomAD
rs1343462513	p.Phe460Tyr	missense variant	-	NC_000016.10:g.81287371T>A	gnomAD
NCI-TCGA novel	p.Pro462Ser	missense variant	-	NC_000016.10:g.81287376C>T	NCI-TCGA
rs746137348	p.Ala463Val	missense variant	-	NC_000016.10:g.81287380C>T	ExAC,TOPMed,gnomAD
rs375617198	p.Ala463Thr	missense variant	-	NC_000016.10:g.81287379G>A	ESP,ExAC,TOPMed,gnomAD
rs1356505741	p.Gly465Arg	missense variant	-	NC_000016.10:g.81287385G>C	TOPMed
rs1306968185	p.Gly465Val	missense variant	-	NC_000016.10:g.81287386G>T	TOPMed
rs138223356	p.Ala466Gly	missense variant	-	NC_000016.10:g.81287389C>G	ESP,ExAC,TOPMed,gnomAD
rs1052615604	p.Lys467Thr	missense variant	-	NC_000016.10:g.81287392A>C	TOPMed,gnomAD
rs562023046	p.Asp468Gly	missense variant	-	NC_000016.10:g.81287395A>G	1000Genomes,ExAC,gnomAD
rs1331990712	p.Glu469Lys	missense variant	-	NC_000016.10:g.81287397G>A	gnomAD
rs901569270	p.Glu469Gly	missense variant	-	NC_000016.10:g.81287398A>G	TOPMed
rs763950117	p.Asp471Glu	missense variant	-	NC_000016.10:g.81287405C>A	ExAC,TOPMed,gnomAD
rs143238312	p.Gly472Ala	missense variant	-	NC_000016.10:g.81290348G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs529606533	p.Gly472Arg	missense variant	-	NC_000016.10:g.81287406G>C	1000Genomes,ExAC,gnomAD
rs529606533	p.Gly472Arg	missense variant	-	NC_000016.10:g.81287406G>A	1000Genomes,ExAC,gnomAD
rs780170423	p.Ile474Val	missense variant	-	NC_000016.10:g.81290353A>G	ExAC,gnomAD
rs1276189901	p.Ser476Leu	missense variant	-	NC_000016.10:g.81290360C>T	TOPMed
rs1326447507	p.Ser480Pro	missense variant	-	NC_000016.10:g.81290371T>C	TOPMed
rs754871031	p.Thr481Ile	missense variant	-	NC_000016.10:g.81290375C>T	ExAC,gnomAD
rs1339175805	p.Pro483Ala	missense variant	-	NC_000016.10:g.81290380C>G	TOPMed
rs967088093	p.Gln484Pro	missense variant	-	NC_000016.10:g.81290384A>C	TOPMed,gnomAD
rs1398682170	p.Leu490Phe	missense variant	-	NC_000016.10:g.81290401C>T	gnomAD
rs1356425007	p.Asp493Val	missense variant	-	NC_000016.10:g.81290411A>T	gnomAD
rs375017107	p.Thr498Met	missense variant	-	NC_000016.10:g.81290426C>T	ESP,ExAC,TOPMed,gnomAD
rs375017107	p.Thr498Lys	missense variant	-	NC_000016.10:g.81290426C>A	ESP,ExAC,TOPMed,gnomAD
COSM3512714	p.Glu499Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81290428G>A	NCI-TCGA Cosmic
rs772645757	p.Arg502His	missense variant	-	NC_000016.10:g.81290438G>A	ExAC,gnomAD
rs772011367	p.Arg502Ser	missense variant	-	NC_000016.10:g.81290437C>A	ExAC,TOPMed,gnomAD
rs772011367	p.Arg502Cys	missense variant	-	NC_000016.10:g.81290437C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala503Gly	missense variant	-	NC_000016.10:g.81290441C>G	NCI-TCGA
rs1487054115	p.Val505Ile	missense variant	-	NC_000016.10:g.81290446G>A	gnomAD
rs1487054115	p.Val505Leu	missense variant	-	NC_000016.10:g.81290446G>C	gnomAD
rs770573150	p.Asp508Asn	missense variant	-	NC_000016.10:g.81290455G>A	ExAC,TOPMed,gnomAD
rs1486503957	p.Met509Val	missense variant	-	NC_000016.10:g.81290458A>G	gnomAD
rs1179884241	p.Met509Thr	missense variant	-	NC_000016.10:g.81290459T>C	gnomAD
rs1255264213	p.Met509Ile	missense variant	-	NC_000016.10:g.81290460G>C	gnomAD
rs776129002	p.Met511Val	missense variant	-	NC_000016.10:g.81290464A>G	ExAC,TOPMed,gnomAD
rs759269101	p.Asp512Asn	missense variant	-	NC_000016.10:g.81290467G>A	ExAC,gnomAD
rs752026741	p.His514Arg	missense variant	-	NC_000016.10:g.81290474A>G	ExAC,gnomAD
rs762349657	p.Gly515Arg	missense variant	-	NC_000016.10:g.81290476G>A	ExAC,gnomAD
rs1417215948	p.Leu516Ser	missense variant	-	NC_000016.10:g.81290480T>C	gnomAD
rs780913495	p.Leu516Phe	missense variant	-	NC_000016.10:g.81290481A>T	ExAC,TOPMed,gnomAD
rs1264289459	p.Phe517Ser	missense variant	-	NC_000016.10:g.81290483T>C	TOPMed
rs750474504	p.Asp520Asn	missense variant	-	NC_000016.10:g.81290491G>A	ExAC,gnomAD
rs750474504	p.Asp520His	missense variant	-	NC_000016.10:g.81290491G>C	ExAC,gnomAD
rs984465964	p.Met521Thr	missense variant	-	NC_000016.10:g.81290495T>C	TOPMed,gnomAD
rs780230107	p.Met521Val	missense variant	-	NC_000016.10:g.81290494A>G	ExAC
rs372672097	p.Asp522Asn	missense variant	-	NC_000016.10:g.81290497G>A	ESP,ExAC,gnomAD
rs755252628	p.Lys526Glu	missense variant	-	NC_000016.10:g.81290509A>G	ExAC,gnomAD
COSM4063098	p.Lys526Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81290509A>C	NCI-TCGA Cosmic
rs1238825168	p.Ala529Thr	missense variant	-	NC_000016.10:g.81290518G>A	gnomAD
rs1453899750	p.Ala529Val	missense variant	-	NC_000016.10:g.81290519C>T	TOPMed
rs148049024	p.Ala530Pro	missense variant	-	NC_000016.10:g.81290521G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148049024	p.Ala530Ser	missense variant	-	NC_000016.10:g.81290521G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148049024	p.Ala530Thr	missense variant	-	NC_000016.10:g.81290521G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183335331	p.Glu533Gln	missense variant	-	NC_000016.10:g.81290530G>C	gnomAD
rs377275995	p.Gln534Glu	missense variant	-	NC_000016.10:g.81290533C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1236668913	p.Gln534His	missense variant	-	NC_000016.10:g.81290535G>C	TOPMed,gnomAD
rs199758470	p.Arg535Gln	missense variant	-	NC_000016.10:g.81290537G>A	ESP,ExAC,TOPMed,gnomAD
rs199758470	p.Arg535Pro	missense variant	-	NC_000016.10:g.81290537G>C	ESP,ExAC,TOPMed,gnomAD
rs770313011	p.Arg535Trp	missense variant	-	NC_000016.10:g.81290536C>T	ExAC,TOPMed,gnomAD
rs928846473	p.Asp536Asn	missense variant	-	NC_000016.10:g.81290539G>A	gnomAD
rs928846473	p.Asp536Tyr	missense variant	-	NC_000016.10:g.81290539G>T	gnomAD
rs75043910	p.Arg537Lys	missense variant	-	NC_000016.10:g.81290543G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs570252686	p.Arg537Ser	missense variant	-	NC_000016.10:g.81290544G>C	1000Genomes,ExAC,gnomAD
rs1395807940	p.Ala538Val	missense variant	-	NC_000016.10:g.81290546C>T	gnomAD
rs762298422	p.Ser539Pro	missense variant	-	NC_000016.10:g.81290548T>C	ExAC,gnomAD
COSM3512715	p.Ser539Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81290549C>T	NCI-TCGA Cosmic
rs376817384	p.Asp540Asn	missense variant	-	NC_000016.10:g.81290551G>A	ESP,ExAC,TOPMed,gnomAD
rs1158977542	p.Asp540Ala	missense variant	-	NC_000016.10:g.81290552A>C	TOPMed,gnomAD
rs376817384	p.Asp540His	missense variant	-	NC_000016.10:g.81290551G>C	ESP,ExAC,TOPMed,gnomAD
RCV000420606	p.Cys541Tyr	missense variant	-	NC_000016.10:g.81290555G>A	ClinVar
rs141781255	p.Cys541Tyr	missense variant	-	NC_000016.10:g.81290555G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755127833	p.His542Leu	missense variant	-	NC_000016.10:g.81290558A>T	ExAC
rs199638187	p.His542Gln	missense variant	-	NC_000016.10:g.81290559C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752443339	p.Gly543Arg	missense variant	-	NC_000016.10:g.81290560G>A	ExAC,TOPMed,gnomAD
rs777667407	p.Ala544Thr	missense variant	-	NC_000016.10:g.81290563G>A	ExAC,gnomAD
rs757272575	p.Thr547Ser	missense variant	-	NC_000016.10:g.81290573C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ter548SerGluUnkThrTerUnkUnk	stop lost	-	NC_000016.10:g.81290576G>C	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0035309	Retinal Diseases	group	BEFREE
C0037268	Skin Abnormalities	group	HPO
C0037274	Dermatologic disorders	group	HPO
C0042842	Vitamin A Deficiency	disease	BEFREE;HPO
C0242383	Age related macular degeneration	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0730362	Disorder of macula of retina	group	BEFREE
C2676023	Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C2676024	CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1	phenotype	ORPHANET;UNIPROT
C3469186	HEMOCHROMATOSIS, TYPE 1	disease	BEFREE
C3815172	Interleukin 1 Beta Measurement	phenotype	GWASCAT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003834	beta-carotene 15,15'-monooxygenase activity	IDA
GO:0003834	beta-carotene 15,15'-monooxygenase activity	IBA
GO:0004744	retinal isomerase activity	IBA
GO:0010436	carotenoid dioxygenase activity	IBA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001523	retinoid metabolic process	IDA
GO:0001523	retinoid metabolic process	TAS
GO:0016121	carotene catabolic process	IBA
GO:0035238	vitamin A biosynthetic process	NAS
GO:0042572	retinol metabolic process	IEA
GO:0042574	retinal metabolic process	NAS
GO:0042574	retinal metabolic process	IBA
GO:0055114	oxidation-reduction process	IEA
GO:1901810	beta-carotene metabolic process	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS
R-HSA-2187338	Visual phototransduction	TAS
R-HSA-372790	Signaling by GPCR	TAS
R-HSA-388396	GPCR downstream signalling	TAS
R-HSA-418594	G alpha (i) signalling events	TAS
R-HSA-6806667	Metabolism of fat-soluble vitamins	TAS
R-HSA-975634	Retinoid metabolism and transport	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of BCO1 mRNA	21346803
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C496492	abrine	abrine results in decreased expression of BCO1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of BCO1 mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of BCO1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of BCO1 gene	27153756
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of BCO1 mRNA	21757418
D000077556	Alitretinoin	Alitretinoin results in decreased expression of BCO1 mRNA	16699835
D000499	Allylamine	Allylamine affects the expression of BCO1 mRNA	15910882
D000638	Amiodarone	Amiodarone results in decreased expression of BCO1 mRNA	24535564
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of BCO1 mRNA	16483693
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of BCO1 mRNA	15761015
D001205	Ascorbic Acid	Ascorbic Acid inhibits the reaction [Oxidants inhibits the reaction [BCO1 protein results in increased oxidation of beta Carotene]]	9526112
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of BCO1 mRNA	20127859
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of BCO1 mRNA	19770486
D019207	beta Carotene	beta Carotene results in increased expression of and results in increased activity of BCO1 protein	16186334
D019207	beta Carotene	beta Carotene results in increased expression of BCO1 mRNA	16186334
D019207	beta Carotene	BCO1 protein affects the susceptibility to beta Carotene	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of ACAD9 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of AEBP1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of APPBP2 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of ARHGAP26 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of ATP8B1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of CDCA8 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of CENPE mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of CLCN3 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of COQ7 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of CTNNAL1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of DHFR mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of DTWD2 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of EDN1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of EIF2S1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of FOXM1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of FZD6 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of IRX4 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of ITM2A mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of KIF11 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of LANCL1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of LMNB2 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of METTL21A mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of METTL9 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of MRPL57 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of MTCH2 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of NCKAP1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of NOM1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of PARD6A mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of PCDH1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of PLAT mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of RPP14 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of RRM1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of TFCP2 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of THOC7 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of TMEM209 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of TTC21B mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of TWF1 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of TYMP mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of YTHDC2 mRNA	24657404
D019207	beta Carotene	[BCO1 protein affects the susceptibility to beta Carotene] which affects the expression of ZDHHC3 mRNA	24657404
D019207	beta Carotene	Ascorbic Acid inhibits the reaction [Oxidants inhibits the reaction [BCO1 protein results in increased oxidation of beta Carotene]]	9526112
D019207	beta Carotene	BCO1 protein results in increased oxidation of beta Carotene	9526112
D019207	beta Carotene	Oxidants inhibits the reaction [BCO1 protein results in increased oxidation of beta Carotene]	9526112
D019207	beta Carotene	Vitamin E inhibits the reaction [Oxidants inhibits the reaction [BCO1 protein results in increased oxidation of beta Carotene]]	9526112
D019207	beta Carotene	BCO1 protein results in increased cleavage of beta Carotene	16711651
D019207	beta Carotene	[BCO1 protein results in increased metabolism of beta Carotene] which results in increased abundance of Vitamin A	25344780
C006780	bisphenol A	bisphenol A results in decreased methylation of BCO1 gene	22576693
C006780	bisphenol A	bisphenol A results in increased expression of BCO1 mRNA	22576693
C006780	bisphenol A	bisphenol A results in increased expression of BCO1 mRNA	26063408
C006780	bisphenol A	bisphenol A affects the expression of BCO1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of BCO1 mRNA	30816183
C018475	butyraldehyde	butyraldehyde results in decreased expression of BCO1 mRNA	26079696
D002104	Cadmium	Cadmium results in increased expression of BCO1 mRNA	19556237
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of BCO1 mRNA	23741332
D002251	Carbon Tetrachloride	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of BCO1 mRNA	30517762
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of BCO1 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of BCO1 mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of BCO1 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of BCO1 mRNA]	31150632
D004041	Dietary Fats	Dietary Fats results in decreased expression of BCO1 mRNA	18457598
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of BCO1 mRNA	31163220
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of BCO1 mRNA	24535843
D004147	Dioxins	Dioxins affects the expression of BCO1 mRNA	20463971
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of BCO1 mRNA	29391264
C118739	entinostat	entinostat results in decreased expression of BCO1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
D000431	Ethanol	Ethanol results in decreased expression of BCO1 mRNA	29361514
D000431	Ethanol	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of BCO1 mRNA	30517762
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of BCO1 mRNA	17606305
D017313	Fenretinide	Fenretinide results in decreased expression of BCO1 mRNA	28973697
D005419	Flavonoids	Flavonoids results in increased expression of BCO1 mRNA	18035473
C069837	fullerene C60	fullerene C60 results in decreased expression of BCO1 mRNA	19167457
C039281	furan	furan results in increased expression of BCO1 mRNA	24183702
C039281	furan	furan results in increased methylation of BCO1 gene	22079235
D007213	Indomethacin	Indomethacin results in increased expression of BCO1 mRNA	28201806
D000077276	Lycopene	BCO1 affects the reaction [Lycopene results in decreased abundance of Testosterone]	21935922
C042720	mercuric bromide	mercuric bromide results in decreased expression of BCO1 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of BCO1 mRNA	26272509
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of BCO1 mRNA	25620056
C028007	nickel monoxide	nickel monoxide results in decreased expression of BCO1 mRNA	19167457
C007350	nitrofen	nitrofen results in increased expression of BCO1 protein	25344780
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of BCO1 mRNA	25729387
D016877	Oxidants	Ascorbic Acid inhibits the reaction [Oxidants inhibits the reaction [BCO1 protein results in increased oxidation of beta Carotene]]	9526112
D016877	Oxidants	Oxidants inhibits the reaction [BCO1 protein results in increased oxidation of beta Carotene]	9526112
D016877	Oxidants	Vitamin E inhibits the reaction [Oxidants inhibits the reaction [BCO1 protein results in increased oxidation of beta Carotene]]	9526112
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in decreased expression of BCO1 mRNA	26272509
D010634	Phenobarbital	Phenobarbital affects the expression of BCO1 mRNA	23091169
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of BCO1 mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of BCO1 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of BCO1 mRNA	20813756; 23811191;
D028321	Plant Preparations	BCO1 affects the reaction [Plant Preparations results in decreased abundance of Testosterone]	21935922
D012172	Retinaldehyde	BCO1 protein results in increased chemical synthesis of Retinaldehyde	16711651
C084904	Ro 41-5253	Ro 41-5253 results in increased expression of BCO1 mRNA	16186334
C084904	Ro 41-5253	Ro 41-5253 results in increased expression of BCO1 protein	16186334
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of BCO1 mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of BCO1 mRNA	25895662
C017947	sodium arsenite	sodium arsenite results in decreased expression of BCO1 mRNA	29361514
C016104	sodium bichromate	sodium bichromate results in decreased expression of BCO1 mRNA	24612858
D013739	Testosterone	BCO1 affects the reaction [Lycopene results in decreased abundance of Testosterone]	21935922
D013739	Testosterone	BCO1 affects the reaction [Plant Preparations results in decreased abundance of Testosterone]	21935922
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BCO1 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BCO1 mRNA	26377647
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of BCO1 mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of BCO1 mRNA	18230668
D014212	Tretinoin	Tretinoin results in increased expression of BCO1 mRNA	20530235
D014212	Tretinoin	Tretinoin affects the expression of BCO1 mRNA	16186334
D014212	Tretinoin	Tretinoin results in decreased expression of BCO1 mRNA	16699835
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of BCO1 mRNA	24935251; 26272509;
D000077288	Troglitazone	Troglitazone results in decreased expression of BCO1 mRNA	28973697
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of BCO1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of BCO1 mRNA	23179753; 24383497; 26272509;
D014635	Valproic Acid	Valproic Acid results in increased methylation of BCO1 gene	29154799
D014635	Valproic Acid	Valproic Acid results in decreased expression of BCO1 mRNA	24535564
D014801	Vitamin A	[BCO1 protein results in increased metabolism of beta Carotene] which results in increased abundance of Vitamin A	25344780
D014810	Vitamin E	Vitamin E inhibits the reaction [Oxidants inhibits the reaction [BCO1 protein results in increased oxidation of beta Carotene]]	9526112

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0223	Dioxygenase
KW-0225	Disease mutation
KW-0408	Iron
KW-0479	Metal-binding
KW-0560	Oxidoreductase
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR004294	Carotenoid_Oase

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03055	RPE65

Gene: BCO1

Basic information

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