CleftGeneDB-Search

Gene: CYP51A1

Basic information

Tag	Content
Uniprot ID	A0A0C4DFL7
Entrez ID	1595
Genbank protein ID
Genbank nucleotide ID	NM_000786.3
Ensembl protein ID	ENSP00000003100
Ensembl nucleotide ID	ENSG00000001630
Gene name	Lanosterol 14-alpha demethylase
Gene symbol	CYP51A1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MAAAAGMLLL GLLQAGGSVL GQAMEKVTGG NLLSMLLIAC AFTLSLVYLI RLAAGHLVQL 60 PAGVKSPPYI FSPIPFLGHA IAFGKSPIEF LENAYEKYGP VFSFTMVGKT FTYLLGSDAA 120 ALLFNSKNED LNAEDVYSRL TTPVFGKGVA YDVPNPVFLE QKKMLKSGLN IAHFKQHVSI 180 IEKETKEYFE SWGESGEKNV FEALSELIIL TASHCLHGKE IRSQLNEKVA QLYADLDGGF 240 SHAAWLLPGW LPLPSFRRRD RAHREIKDIF YKAIQKRRQS QEKIDDILQT LLDATYKDGR 300 PLTDDEVAGM LIGLLLAGQH TSSTTSAWMG FFLARDKTLQ KKCYLEQKTV CGENLPPLTY 360 DQLKDLNLLD RCIKETLRLR PPIMIMMRMA RTPQTVAGYT IPPGHQVCVS PTVNQRLKDS 420 WVERLDFNPD RYLQDNPASG EKFAYVPFGA GRHRCIGENF AYVQIKTIWS TMLRLYEFDL 480 IDGYFPTVNY TTMIHTPENP VIRYKRRSK 509

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	CYP51A1	505060	Q4PJW3		Bos taurus	Prediction	More>>
1:1 ortholog	CYP51A1	102177400	A0A452E234		Capra hircus	Prediction	More>>
1:1 ortholog	CYP51A1	1595	A0A0C4DFL7		Homo sapiens	Prediction	More>>
1:1 ortholog	Cyp51a1	13121	Q8K0C4	CPO	Mus musculus	Publication	More>>
1:1 ortholog	CYP51A1	403334	O46420		Sus scrofa	Prediction	More>>
1:1 ortholog	Cyp51a1	25427	Q64654		Rattus norvegicus	Prediction	More>>
1:1 ortholog	cyp51	414331	Q1JPY5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM3883350	p.Ala2Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92134360G>A	NCI-TCGA Cosmic
rs312262909	p.Ala5Thr	missense variant	-	NC_000007.14:g.92134352C>T	TOPMed,gnomAD
rs312262909	p.Ala5Pro	missense variant	-	NC_000007.14:g.92134352C>G	TOPMed,gnomAD
rs759186637	p.Leu8Val	missense variant	-	NC_000007.14:g.92134343G>C	ExAC,gnomAD
rs765891268	p.Leu9Pro	missense variant	-	NC_000007.14:g.92134339A>G	ExAC,gnomAD
rs1257617460	p.Gln14Leu	missense variant	-	NC_000007.14:g.92134324T>A	gnomAD
rs138006785	p.Ala15Val	missense variant	-	NC_000007.14:g.92134321G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1370167546	p.Gly16Val	missense variant	-	NC_000007.14:g.92134318C>A	TOPMed,gnomAD
rs770354825	p.Gly16Arg	missense variant	-	NC_000007.14:g.92134319C>G	ExAC
rs777085204	p.Gly17Glu	missense variant	-	NC_000007.14:g.92134315C>T	ExAC,TOPMed,gnomAD
rs777085204	p.Gly17Ala	missense variant	-	NC_000007.14:g.92134315C>G	ExAC,TOPMed,gnomAD
rs769042342	p.Ser18Ter	stop gained	-	NC_000007.14:g.92134312G>T	ExAC,gnomAD
rs769042342	p.Ser18Trp	missense variant	-	NC_000007.14:g.92134312G>C	ExAC,gnomAD
rs1006063551	p.Ser18Ala	missense variant	-	NC_000007.14:g.92134313A>C	gnomAD
rs2229188	p.Val19Ala	missense variant	-	NC_000007.14:g.92134309A>G	ExAC,gnomAD
rs1434418422	p.Ala23Thr	missense variant	-	NC_000007.14:g.92134298C>T	gnomAD
rs745869732	p.Met24Ile	missense variant	-	NC_000007.14:g.92134293C>G	ExAC,TOPMed,gnomAD
rs772192197	p.Met24Leu	missense variant	-	NC_000007.14:g.92134295T>A	ExAC,gnomAD
rs745869732	p.Met24Ile	missense variant	-	NC_000007.14:g.92134293C>A	ExAC,TOPMed,gnomAD
rs1179748917	p.Lys26Asn	missense variant	-	NC_000007.14:g.92134287C>G	TOPMed,gnomAD
rs1232419052	p.Lys26Arg	missense variant	-	NC_000007.14:g.92134288T>C	gnomAD
rs777701358	p.Val27Glu	missense variant	-	NC_000007.14:g.92134285A>T	ExAC,gnomAD
rs146964281	p.Asn31Lys	missense variant	-	NC_000007.14:g.92134272G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1313413	p.Leu33Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92134268A>C	NCI-TCGA Cosmic
rs754634511	p.Leu33Ser	missense variant	-	NC_000007.14:g.92134267A>G	ExAC,TOPMed,gnomAD
rs1278131014	p.Met35Leu	missense variant	-	NC_000007.14:g.92134262T>G	gnomAD
rs751210534	p.Met35Ile	missense variant	-	NC_000007.14:g.92134260C>A	ExAC,gnomAD
rs765867586	p.Leu36Arg	missense variant	-	NC_000007.14:g.92134258A>C	ExAC
rs762525937	p.Leu37Val	missense variant	-	NC_000007.14:g.92134256G>C	ExAC,gnomAD
rs1278512464	p.Leu37Pro	missense variant	-	NC_000007.14:g.92134255A>G	gnomAD
rs749892526	p.Ala39Ser	missense variant	-	NC_000007.14:g.92134250C>A	ExAC,gnomAD
rs765865740	p.Cys40Ser	missense variant	-	NC_000007.14:g.92134246C>G	ExAC,TOPMed,gnomAD
rs1414578203	p.Cys40Gly	missense variant	-	NC_000007.14:g.92134247A>C	gnomAD
rs376664914	p.Ala41Thr	missense variant	-	NC_000007.14:g.92134244C>T	ESP,ExAC,gnomAD
rs772128272	p.Arg51Cys	missense variant	-	NC_000007.14:g.92134214G>A	ExAC,gnomAD
rs141141306	p.Arg51His	missense variant	-	NC_000007.14:g.92134213C>T	ESP,ExAC,TOPMed,gnomAD
rs772128272	p.Arg51Ser	missense variant	-	NC_000007.14:g.92134214G>T	ExAC,gnomAD
rs778926494	p.Leu52Val	missense variant	-	NC_000007.14:g.92134211G>C	ExAC,TOPMed,gnomAD
rs372343694	p.Ala54Thr	missense variant	-	NC_000007.14:g.92134205C>T	ESP,ExAC,TOPMed,gnomAD
rs1217673079	p.Ala54Val	missense variant	-	NC_000007.14:g.92134204G>A	gnomAD
rs1283391141	p.His56Gln	missense variant	-	NC_000007.14:g.92134197G>C	gnomAD
rs573353670	p.His56Tyr	missense variant	-	NC_000007.14:g.92134199G>A	ExAC,TOPMed,gnomAD
rs1293347153	p.Leu60Met	missense variant	-	NC_000007.14:g.92134187G>T	gnomAD
rs1232344451	p.Pro61Leu	missense variant	-	NC_000007.14:g.92134183G>A	gnomAD
rs779766189	p.Ala62Ser	missense variant	-	NC_000007.14:g.92134181C>A	ExAC,gnomAD
rs376480367	p.Gly63Glu	missense variant	-	NC_000007.14:g.92134177C>T	ExAC,gnomAD
rs1411606857	p.Gly63Trp	missense variant	-	NC_000007.14:g.92134178C>A	gnomAD
rs1194909981	p.Val64Met	missense variant	-	NC_000007.14:g.92134175C>T	TOPMed
rs1461734631	p.Lys65Arg	missense variant	-	NC_000007.14:g.92131871T>C	gnomAD
rs1352969867	p.Ser66Gly	missense variant	-	NC_000007.14:g.92131869T>C	gnomAD
rs1168081018	p.Pro68Thr	missense variant	-	NC_000007.14:g.92131863G>T	gnomAD
rs774551272	p.Tyr69Ter	stop gained	-	NC_000007.14:g.92131858G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr69Cys	missense variant	-	NC_000007.14:g.92131859T>C	NCI-TCGA
rs766521402	p.Ile70Val	missense variant	-	NC_000007.14:g.92131857T>C	ExAC,gnomAD
rs763030715	p.Phe71Val	missense variant	-	NC_000007.14:g.92131854A>C	ExAC,gnomAD
rs773113914	p.Ser72Phe	missense variant	-	NC_000007.14:g.92131850G>A	ExAC,gnomAD
rs148197561	p.Ile74Val	missense variant	-	NC_000007.14:g.92131845T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148197561	p.Ile74Leu	missense variant	-	NC_000007.14:g.92131845T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148197561	p.Ile74Phe	missense variant	-	NC_000007.14:g.92131845T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1230760264	p.Phe76Tyr	missense variant	-	NC_000007.14:g.92131838A>T	gnomAD
rs1213473126	p.Leu77Phe	missense variant	-	NC_000007.14:g.92131836G>A	gnomAD
rs771992136	p.Gly78Val	missense variant	-	NC_000007.14:g.92131832C>A	ExAC,gnomAD
rs375716835	p.His79Tyr	missense variant	-	NC_000007.14:g.92131830G>A	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Ala80Asp	missense variant	-	NC_000007.14:g.92131826G>T	NCI-TCGA
rs1280033473	p.Phe83Leu	missense variant	-	NC_000007.14:g.92131818A>G	gnomAD
rs138205508	p.Ile88Val	missense variant	-	NC_000007.14:g.92131803T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149112643	p.Ile88Thr	missense variant	-	NC_000007.14:g.92131802A>G	ESP,ExAC,TOPMed,gnomAD
COSM1092997	p.Glu89Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92131800C>T	NCI-TCGA Cosmic
rs1034741279	p.Glu92Gly	missense variant	-	NC_000007.14:g.92131790T>C	TOPMed
COSM1313412	p.Glu96Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92131779C>T	NCI-TCGA Cosmic
rs756695149	p.Glu96Gly	missense variant	-	NC_000007.14:g.92131778T>C	ExAC,TOPMed,gnomAD
COSM3883349	p.Lys97Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.92131776T>A	NCI-TCGA Cosmic
rs755424289	p.Tyr98Cys	missense variant	-	NC_000007.14:g.92129055T>C	ExAC,gnomAD
rs780364458	p.Ser103Gly	missense variant	-	NC_000007.14:g.92129041T>C	ExAC,gnomAD
rs957151238	p.Phe104Cys	missense variant	-	NC_000007.14:g.92129037A>C	TOPMed,gnomAD
rs750608351	p.Thr105Ser	missense variant	-	NC_000007.14:g.92129034G>C	ExAC,gnomAD
rs750608351	p.Thr105Asn	missense variant	-	NC_000007.14:g.92129034G>T	ExAC,gnomAD
rs146474563	p.Met106Val	missense variant	-	NC_000007.14:g.92129032T>C	ESP,ExAC,TOPMed,gnomAD
rs551704866	p.Val107Ile	missense variant	-	NC_000007.14:g.92129029C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1275196515	p.Val107Ala	missense variant	-	NC_000007.14:g.92129028A>G	TOPMed,gnomAD
rs759517992	p.Thr112Ser	missense variant	-	NC_000007.14:g.92129014T>A	ExAC,TOPMed,gnomAD
rs1242380745	p.Leu114Pro	missense variant	-	NC_000007.14:g.92129007A>G	gnomAD
rs1328030760	p.Leu115Arg	missense variant	-	NC_000007.14:g.92129004A>C	TOPMed,gnomAD
rs528523424	p.Asp118Ala	missense variant	-	NC_000007.14:g.92128995T>G	1000Genomes,ExAC,gnomAD
rs1381645352	p.Ala119Gly	missense variant	-	NC_000007.14:g.92128992G>C	gnomAD
rs770839295	p.Ala120Val	missense variant	-	NC_000007.14:g.92128989G>A	ExAC,gnomAD
rs762730609	p.Ala121Thr	missense variant	-	NC_000007.14:g.92128987C>T	ExAC,gnomAD
rs375807424	p.Ala121Val	missense variant	-	NC_000007.14:g.92128986G>A	ESP,ExAC,gnomAD
rs372875744	p.Asn125His	missense variant	-	NC_000007.14:g.92128975T>G	ESP,ExAC,TOPMed,gnomAD
rs780640460	p.Ser126Asn	missense variant	-	NC_000007.14:g.92128971C>T	ExAC,gnomAD
rs1374029916	p.Asp130His	missense variant	-	NC_000007.14:g.92128960C>G	TOPMed,gnomAD
rs747490076	p.Asp130Glu	missense variant	-	NC_000007.14:g.92128958G>T	ExAC,gnomAD
rs1353246786	p.Ala133Val	missense variant	-	NC_000007.14:g.92128950G>A	TOPMed
rs1441644451	p.Asp135Gly	missense variant	-	NC_000007.14:g.92128944T>C	TOPMed
NCI-TCGA novel	p.Asp135Tyr	missense variant	-	NC_000007.14:g.92128945C>A	NCI-TCGA
rs368261783	p.Tyr137Cys	missense variant	-	NC_000007.14:g.92128938T>C	ESP,ExAC,gnomAD
rs750743669	p.Ser138Asn	missense variant	-	NC_000007.14:g.92128935C>T	ExAC,gnomAD
rs140356336	p.Arg139Leu	missense variant	-	NC_000007.14:g.92128932C>A	ESP,ExAC,TOPMed,gnomAD
rs140356336	p.Arg139His	missense variant	-	NC_000007.14:g.92128932C>T	ESP,ExAC,TOPMed,gnomAD
rs758553106	p.Arg139Cys	missense variant	-	NC_000007.14:g.92128933G>A	ExAC,TOPMed,gnomAD
rs1340319542	p.Pro143Ser	missense variant	-	NC_000007.14:g.92128921G>A	gnomAD
NCI-TCGA novel	p.Ala150Thr	missense variant	-	NC_000007.14:g.92128900C>T	NCI-TCGA
rs312262912	p.Tyr151Asp	missense variant	-	NC_000007.14:g.92128897A>C	TOPMed
rs766350147	p.Asp152Glu	missense variant	-	NC_000007.14:g.92128892A>T	ExAC,gnomAD
rs371492794	p.Asp152Gly	missense variant	-	NC_000007.14:g.92128893T>C	ESP,ExAC,TOPMed,gnomAD
rs755026542	p.Asp152Asn	missense variant	-	NC_000007.14:g.92128894C>T	ExAC,gnomAD
rs1320973894	p.Pro154Thr	missense variant	-	NC_000007.14:g.92128888G>T	gnomAD
rs762665681	p.Pro154Leu	missense variant	-	NC_000007.14:g.92128887G>A	ExAC,TOPMed,gnomAD
rs1396756852	p.Asn155Ser	missense variant	-	NC_000007.14:g.92128884T>C	gnomAD
rs146573154	p.Pro156Leu	missense variant	-	NC_000007.14:g.92128881G>A	ESP,ExAC,TOPMed,gnomAD
rs1363459886	p.Val157Ala	missense variant	-	NC_000007.14:g.92127630A>G	gnomAD
rs1363459886	p.Val157Gly	missense variant	-	NC_000007.14:g.92127630A>C	gnomAD
rs766245719	p.Val157Ile	missense variant	-	NC_000007.14:g.92127631C>T	ExAC,gnomAD
rs1180347451	p.Phe158Val	missense variant	-	NC_000007.14:g.92127628A>C	gnomAD
rs144068591	p.Met164Leu	missense variant	-	NC_000007.14:g.92127610T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750224776	p.Leu165Ter	stop gained	-	NC_000007.14:g.92127606A>C	ExAC,gnomAD
rs1441786183	p.Ser167Gly	missense variant	-	NC_000007.14:g.92127601T>C	TOPMed,gnomAD
rs1225000839	p.Leu169Val	missense variant	-	NC_000007.14:g.92127595G>C	gnomAD
NCI-TCGA novel	p.Leu169Ile	missense variant	-	NC_000007.14:g.92127595G>T	NCI-TCGA
rs139239552	p.Ile171Val	missense variant	-	NC_000007.14:g.92127589T>C	ESP,ExAC,TOPMed,gnomAD
rs776271983	p.Ala172Val	missense variant	-	NC_000007.14:g.92127585G>A	ExAC,TOPMed,gnomAD
rs1400566855	p.His177Gln	missense variant	-	NC_000007.14:g.92127569A>T	TOPMed
rs535433995	p.His177Arg	missense variant	-	NC_000007.14:g.92127570T>C	TOPMed
rs927164088	p.Val178Ile	missense variant	-	NC_000007.14:g.92127568C>T	TOPMed,gnomAD
rs1294304078	p.Ser179Pro	missense variant	-	NC_000007.14:g.92127565A>G	gnomAD
rs1157146367	p.Ile180Val	missense variant	-	NC_000007.14:g.92127562T>C	gnomAD
rs760201793	p.Ile180Thr	missense variant	-	NC_000007.14:g.92127561A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu184ArgPheSerTerUnk	frameshift	-	NC_000007.14:g.92127550_92127551insT	NCI-TCGA
rs772499331	p.Thr185Ala	missense variant	-	NC_000007.14:g.92127547T>C	ExAC,gnomAD
rs151249652	p.Tyr188Cys	missense variant	-	NC_000007.14:g.92127537T>C	ESP,ExAC,TOPMed,gnomAD
rs1157034982	p.Glu190Gly	missense variant	-	NC_000007.14:g.92127531T>C	gnomAD
rs771325259	p.Glu190Asp	missense variant	-	NC_000007.14:g.92127530C>G	ExAC,TOPMed,gnomAD
rs1418779389	p.Trp192Ter	stop gained	-	NC_000007.14:g.92127524C>T	gnomAD
NCI-TCGA novel	p.Glu194Asp	missense variant	-	NC_000007.14:g.92127518T>G	NCI-TCGA
rs1188399041	p.Glu197Gln	missense variant	-	NC_000007.14:g.92127511C>G	gnomAD
NCI-TCGA novel	p.Glu197Ter	stop gained	-	NC_000007.14:g.92127511C>A	NCI-TCGA
rs1472321575	p.Lys198Arg	missense variant	-	NC_000007.14:g.92127507T>C	gnomAD
rs1411407729	p.Asn199Ser	missense variant	-	NC_000007.14:g.92126427T>C	gnomAD
rs768885299	p.Asn199MetPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.92127505T>-	NCI-TCGA
rs763768697	p.Val200Leu	missense variant	-	NC_000007.14:g.92126425C>A	ExAC,TOPMed,gnomAD
rs763768697	p.Val200Met	missense variant	-	NC_000007.14:g.92126425C>T	ExAC,TOPMed,gnomAD
rs752203059	p.Ala203Thr	missense variant	-	NC_000007.14:g.92126416C>T	ExAC,gnomAD
rs1286438351	p.Ala203Val	missense variant	-	NC_000007.14:g.92126415G>A	TOPMed
rs1469378177	p.Ile208Val	missense variant	-	NC_000007.14:g.92126401T>C	TOPMed,gnomAD
rs1469378177	p.Ile208Leu	missense variant	-	NC_000007.14:g.92126401T>G	TOPMed,gnomAD
rs541254407	p.Ile209Val	missense variant	-	NC_000007.14:g.92126398T>C	1000Genomes,ExAC,gnomAD
rs760031694	p.Thr211Ile	missense variant	-	NC_000007.14:g.92126391G>A	ExAC,gnomAD
rs1227796916	p.Ala212Ser	missense variant	-	NC_000007.14:g.92126389C>A	TOPMed
rs771282146	p.Ala212Gly	missense variant	-	NC_000007.14:g.92126388G>C	ExAC,gnomAD
rs771282146	p.Ala212Val	missense variant	-	NC_000007.14:g.92126388G>A	ExAC,gnomAD
rs1215466875	p.His214Arg	missense variant	-	NC_000007.14:g.92126382T>C	gnomAD
rs895752376	p.Leu216Phe	missense variant	-	NC_000007.14:g.92126375C>G	TOPMed
rs763430437	p.His217Leu	missense variant	-	NC_000007.14:g.92126373T>A	ExAC,TOPMed,gnomAD
rs1196930833	p.Lys219Arg	missense variant	-	NC_000007.14:g.92126367T>C	TOPMed
NCI-TCGA novel	p.Glu220Lys	missense variant	-	NC_000007.14:g.92126365C>T	NCI-TCGA
rs773667970	p.Gln224Ter	stop gained	-	NC_000007.14:g.92126353G>A	ExAC,gnomAD
rs770177052	p.Leu225Val	missense variant	-	NC_000007.14:g.92126350G>C	ExAC,gnomAD
rs1194927681	p.Asn226Ser	missense variant	-	NC_000007.14:g.92126346T>C	TOPMed,gnomAD
rs748357739	p.Glu227Gly	missense variant	-	NC_000007.14:g.92126343T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu227Ter	stop gained	-	NC_000007.14:g.92126344C>A	NCI-TCGA
rs142437178	p.Lys228Gln	missense variant	-	NC_000007.14:g.92126341T>G	ESP,ExAC,TOPMed,gnomAD
rs998666900	p.Val229Leu	missense variant	-	NC_000007.14:g.92126338C>A	TOPMed,gnomAD
COSM1092995	p.Ala230Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92126335C>T	NCI-TCGA Cosmic
rs1260803309	p.Tyr233Cys	missense variant	-	NC_000007.14:g.92126325T>C	gnomAD
rs1009256662	p.Gly238Glu	missense variant	-	NC_000007.14:g.92126310C>T	TOPMed
rs1486619228	p.Gly239Asp	missense variant	-	NC_000007.14:g.92126307C>T	gnomAD
rs375056689	p.Ser241Thr	missense variant	-	NC_000007.14:g.92126301C>G	ESP,ExAC,TOPMed,gnomAD
rs747004092	p.Ser241Cys	missense variant	-	NC_000007.14:g.92126302T>A	ExAC,gnomAD
rs757146746	p.His242Arg	missense variant	-	NC_000007.14:g.92126298T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala243Thr	missense variant	-	NC_000007.14:g.92126296C>T	NCI-TCGA
rs1281027698	p.Ala244Gly	missense variant	-	NC_000007.14:g.92126292G>C	gnomAD
rs753673809	p.Trp245Ter	stop gained	-	NC_000007.14:g.92126289C>T	ExAC,TOPMed,gnomAD
rs1042844921	p.Leu247Ser	missense variant	-	NC_000007.14:g.92126283A>G	TOPMed,gnomAD
rs1190105933	p.Pro248Ser	missense variant	-	NC_000007.14:g.92126281G>A	gnomAD
rs1487310779	p.Gly249Ser	missense variant	-	NC_000007.14:g.92126278C>T	gnomAD
rs1341840589	p.Pro252Ala	missense variant	-	NC_000007.14:g.92126269G>C	gnomAD
rs1272906205	p.Pro252Arg	missense variant	-	NC_000007.14:g.92126268G>C	gnomAD
rs536125410	p.Leu253Ser	missense variant	-	NC_000007.14:g.92126265A>G	1000Genomes,ExAC,gnomAD
rs536125410	p.Leu253Trp	missense variant	-	NC_000007.14:g.92126265A>C	1000Genomes,ExAC,gnomAD
rs1257635853	p.Ser255Gly	missense variant	-	NC_000007.14:g.92126260T>C	TOPMed
NCI-TCGA novel	p.Phe256Leu	missense variant	-	NC_000007.14:g.92126255G>T	NCI-TCGA
rs765961879	p.Arg258His	missense variant	-	NC_000007.14:g.92123851C>T	ExAC,TOPMed,gnomAD
rs765961879	p.Arg258Leu	missense variant	-	NC_000007.14:g.92123851C>A	ExAC,TOPMed,gnomAD
rs200921006	p.Arg258Cys	missense variant	-	NC_000007.14:g.92123852G>A	ESP,ExAC,TOPMed,gnomAD
rs1176047095	p.Arg261Lys	missense variant	-	NC_000007.14:g.92123842C>T	TOPMed
rs750961058	p.His263Tyr	missense variant	-	NC_000007.14:g.92123837G>A	ExAC,TOPMed,gnomAD
rs941233670	p.His263Arg	missense variant	-	NC_000007.14:g.92123836T>C	TOPMed
rs372185409	p.Arg264Gly	missense variant	-	NC_000007.14:g.92123834G>C	ESP,ExAC,TOPMed,gnomAD
rs372185409	p.Arg264Trp	missense variant	-	NC_000007.14:g.92123834G>A	ESP,ExAC,TOPMed,gnomAD
rs567300492	p.Arg264Gln	missense variant	-	NC_000007.14:g.92123833C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs370279787	p.Glu265Gly	missense variant	-	NC_000007.14:g.92123830T>C	ESP,ExAC,TOPMed,gnomAD
rs764417991	p.Ile266Ser	missense variant	-	NC_000007.14:g.92123827A>C	ExAC,gnomAD
rs1054840553	p.Asp268Gly	missense variant	-	NC_000007.14:g.92123821T>C	TOPMed
rs760787064	p.Ile269Val	missense variant	-	NC_000007.14:g.92123819T>C	ExAC,gnomAD
rs1433365074	p.Phe270Leu	missense variant	-	NC_000007.14:g.92123814G>C	TOPMed,gnomAD
rs775608607	p.Tyr271Cys	missense variant	-	NC_000007.14:g.92123812T>C	ExAC,TOPMed,gnomAD
rs772139757	p.Lys272Glu	missense variant	-	NC_000007.14:g.92123810T>C	ExAC,TOPMed,gnomAD
rs1475710671	p.Ala273Pro	missense variant	-	NC_000007.14:g.92123807C>G	gnomAD
rs141009880	p.Ile274Thr	missense variant	-	NC_000007.14:g.92123803A>G	ESP,ExAC,gnomAD
rs1239145049	p.Gln275Arg	missense variant	-	NC_000007.14:g.92123800T>C	TOPMed
rs140702410	p.Arg277Leu	missense variant	-	NC_000007.14:g.92123794C>A	1000Genomes,ExAC,gnomAD
rs944015648	p.Arg277Cys	missense variant	-	NC_000007.14:g.92123795G>A	TOPMed,gnomAD
rs140702410	p.Arg277His	missense variant	-	NC_000007.14:g.92123794C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg278LeuPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.92123787_92123793CTGTCTG>-	NCI-TCGA
rs780815145	p.Gln281Pro	missense variant	-	NC_000007.14:g.92123782T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu282Ter	stop gained	-	NC_000007.14:g.92123780C>A	NCI-TCGA
rs1275243191	p.Ile284Val	missense variant	-	NC_000007.14:g.92123774T>C	gnomAD
rs746627790	p.Asp285Gly	missense variant	-	NC_000007.14:g.92123770T>C	ExAC,gnomAD
rs146408738	p.Asp285Tyr	missense variant	-	NC_000007.14:g.92123771C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1394288826	p.Ile287Val	missense variant	-	NC_000007.14:g.92123765T>C	TOPMed,gnomAD
COSM3924213	p.Leu288Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92123762G>A	NCI-TCGA Cosmic
rs779777711	p.Thr290Ala	missense variant	-	NC_000007.14:g.92123756T>C	ExAC,gnomAD
rs757985174	p.Asp293Val	missense variant	-	NC_000007.14:g.92123746T>A	ExAC,gnomAD
rs1386027337	p.Ala294Thr	missense variant	-	NC_000007.14:g.92123744C>T	gnomAD
rs768330653	p.Arg300His	missense variant	-	NC_000007.14:g.92123307C>T	ExAC,TOPMed,gnomAD
rs776543387	p.Arg300Cys	missense variant	-	NC_000007.14:g.92123308G>A	ExAC,TOPMed,gnomAD
rs1391354092	p.Asp305Tyr	missense variant	-	NC_000007.14:g.92123293C>A	gnomAD
NCI-TCGA novel	p.Glu306Lys	missense variant	-	NC_000007.14:g.92123290C>T	NCI-TCGA
rs143968550	p.Ala308Val	missense variant	-	NC_000007.14:g.92123283G>A	ESP,ExAC,TOPMed,gnomAD
rs779863847	p.Leu311Phe	missense variant	-	NC_000007.14:g.92123275G>A	ExAC,gnomAD
rs1397040817	p.Ile312Phe	missense variant	-	NC_000007.14:g.92123272T>A	gnomAD
rs985419477	p.Ala317Val	missense variant	-	NC_000007.14:g.92123256G>A	TOPMed,gnomAD
rs985419477	p.Ala317Glu	missense variant	-	NC_000007.14:g.92123256G>T	TOPMed,gnomAD
rs745413412	p.His320Arg	missense variant	-	NC_000007.14:g.92123247T>C	ExAC,gnomAD
rs745413412	p.His320Pro	missense variant	-	NC_000007.14:g.92123247T>G	ExAC,gnomAD
rs1207863213	p.Thr321Ile	missense variant	-	NC_000007.14:g.92123244G>A	gnomAD
rs932708139	p.Thr324Ala	missense variant	-	NC_000007.14:g.92123236T>C	gnomAD
rs1275047021	p.Thr324Ile	missense variant	-	NC_000007.14:g.92123235G>A	gnomAD
rs377725460	p.Thr325Ala	missense variant	-	NC_000007.14:g.92123233T>C	ESP,ExAC,TOPMed,gnomAD
rs1338992027	p.Ser326Ile	missense variant	-	NC_000007.14:g.92123229C>A	gnomAD
rs1268696350	p.Ser326Arg	missense variant	-	NC_000007.14:g.92123228A>C	gnomAD
rs757841201	p.Met329Val	missense variant	-	NC_000007.14:g.92123221T>C	ExAC,gnomAD
rs754299611	p.Gly330Ala	missense variant	-	NC_000007.14:g.92123217C>G	ExAC,gnomAD
rs1330179621	p.Leu333Ser	missense variant	-	NC_000007.14:g.92123208A>G	gnomAD
NCI-TCGA novel	p.Leu333TrpPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.92123208A>-	NCI-TCGA
rs140118347	p.Ala334Ser	missense variant	-	NC_000007.14:g.92123206C>A	ESP,ExAC,TOPMed,gnomAD
rs1392752438	p.Asp336Glu	missense variant	-	NC_000007.14:g.92123198G>C	gnomAD
rs753013830	p.Thr338Ile	missense variant	-	NC_000007.14:g.92123193G>A	ExAC,gnomAD
rs759721514	p.Gln340Lys	missense variant	-	NC_000007.14:g.92123188G>T	ExAC,gnomAD
rs184629573	p.Lys341Glu	missense variant	-	NC_000007.14:g.92123185T>C	1000Genomes,ExAC,gnomAD
COSM4613162	p.Lys342AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.92123180T>-	NCI-TCGA Cosmic
rs746385504	p.Cys343MetPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.92123179_92123180insT	NCI-TCGA
rs761876372	p.Tyr344His	missense variant	-	NC_000007.14:g.92123176A>G	ExAC,TOPMed,gnomAD
rs1173240766	p.Glu346Asp	missense variant	-	NC_000007.14:g.92123168T>A	gnomAD
rs981295706	p.Gln347Lys	missense variant	-	NC_000007.14:g.92123167G>T	gnomAD
rs981295706	p.Gln347Ter	stop gained	-	NC_000007.14:g.92123167G>A	gnomAD
rs1482034068	p.Pro356Leu	missense variant	-	NC_000007.14:g.92123139G>A	gnomAD
rs775395552	p.Pro356Ser	missense variant	-	NC_000007.14:g.92123140G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro357Ser	missense variant	-	NC_000007.14:g.92123137G>A	NCI-TCGA
rs1237119184	p.Thr359Ser	missense variant	-	NC_000007.14:g.92123130G>C	TOPMed
rs771902126	p.Thr359Ala	missense variant	-	NC_000007.14:g.92123131T>C	ExAC,gnomAD
rs745502963	p.Gln362Glu	missense variant	-	NC_000007.14:g.92123122G>C	ExAC,gnomAD
COSM3833470	p.Asp365Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92118609C>A	NCI-TCGA Cosmic
rs1039290018	p.Asp365Asn	missense variant	-	NC_000007.14:g.92118609C>T	TOPMed,gnomAD
rs1426032093	p.Asp365Val	missense variant	-	NC_000007.14:g.92118608T>A	TOPMed
rs1441769612	p.Asp370Glu	missense variant	-	NC_000007.14:g.92118592A>C	TOPMed,gnomAD
rs376034553	p.Arg371Cys	missense variant	-	NC_000007.14:g.92118591G>A	1000Genomes,ESP,ExAC,gnomAD
rs376034553	p.Arg371Gly	missense variant	-	NC_000007.14:g.92118591G>C	1000Genomes,ESP,ExAC,gnomAD
rs376034553	p.Arg371Ser	missense variant	-	NC_000007.14:g.92118591G>T	1000Genomes,ESP,ExAC,gnomAD
rs138355676	p.Arg371His	missense variant	-	NC_000007.14:g.92118590C>T	ESP,ExAC,TOPMed,gnomAD
rs138355676	p.Arg371Leu	missense variant	-	NC_000007.14:g.92118590C>A	ESP,ExAC,TOPMed,gnomAD
rs1386771548	p.Ile373Val	missense variant	-	NC_000007.14:g.92118585T>C	TOPMed
COSM3431854	p.Glu375Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.92118579C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg378Ile	missense variant	-	NC_000007.14:g.92118569C>A	NCI-TCGA
rs1329435779	p.Leu379Ile	missense variant	-	NC_000007.14:g.92118567G>T	gnomAD
NCI-TCGA novel	p.Arg380ArgIleLeuProCysIlePheLeuAla	insertion	-	NC_000007.14:g.92118562_92118563insGCTAGGAAGATGCAAGGAAGGATTCTC	NCI-TCGA
rs760669078	p.Pro381Thr	missense variant	-	NC_000007.14:g.92118561G>T	ExAC,TOPMed,gnomAD
rs150090274	p.Ile383Leu	missense variant	-	NC_000007.14:g.92118555T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150090274	p.Ile383Val	missense variant	-	NC_000007.14:g.92118555T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3698597	p.Met384Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92118550C>A	NCI-TCGA Cosmic
rs1285150928	p.Met384Leu	missense variant	-	NC_000007.14:g.92118552T>G	gnomAD
NCI-TCGA novel	p.Met384Thr	missense variant	-	NC_000007.14:g.92118551A>G	NCI-TCGA
rs759341868	p.Ile385Phe	missense variant	-	NC_000007.14:g.92118549T>A	ExAC,gnomAD
rs773893086	p.Met386Val	missense variant	-	NC_000007.14:g.92118546T>C	ExAC,gnomAD
rs1355542869	p.Met387Val	missense variant	-	NC_000007.14:g.92118543T>C	TOPMed
rs765119371	p.Met387Ile	missense variant	-	NC_000007.14:g.92118541C>G	ExAC
rs765119371	p.Met387Ile	missense variant	-	NC_000007.14:g.92118541C>T	ExAC
rs748782320	p.Arg388Ter	stop gained	-	NC_000007.14:g.92118540T>A	ExAC,TOPMed,gnomAD
rs772652243	p.Tyr399Asp	missense variant	-	NC_000007.14:g.92117200A>C	ExAC,gnomAD
rs139028687	p.Thr400Ala	missense variant	-	NC_000007.14:g.92117197T>C	1000Genomes,ExAC,gnomAD
rs1394502139	p.Pro403Leu	missense variant	-	NC_000007.14:g.92117187G>A	TOPMed
rs747587844	p.His405Tyr	missense variant	-	NC_000007.14:g.92117182G>A	ExAC,gnomAD
rs1442075748	p.Gln406Arg	missense variant	-	NC_000007.14:g.92117178T>C	gnomAD
rs1186056985	p.Val409Ile	missense variant	-	NC_000007.14:g.92117170C>T	gnomAD
rs999398044	p.Ser410Phe	missense variant	-	NC_000007.14:g.92117166G>A	TOPMed,gnomAD
rs777133695	p.Pro411Ser	missense variant	-	NC_000007.14:g.92117164G>A	ExAC,gnomAD
COSM4676038	p.Val413Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92117158C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln415Glu	missense variant	-	NC_000007.14:g.92117152G>C	NCI-TCGA
rs554366054	p.Leu417Pro	missense variant	-	NC_000007.14:g.92117145A>G	1000Genomes
rs554366054	p.Leu417Arg	missense variant	-	NC_000007.14:g.92117145A>C	1000Genomes
NCI-TCGA novel	p.Lys418MetPheSerTerUnk	frameshift	-	NC_000007.14:g.92117137_92117144AGTCTTTA>-	NCI-TCGA
rs769100106	p.Asp419Tyr	missense variant	-	NC_000007.14:g.92117140C>A	ExAC
rs1342063694	p.Ser420Leu	missense variant	-	NC_000007.14:g.92117136G>A	gnomAD
rs141654764	p.Trp421Ter	stop gained	-	NC_000007.14:g.92117132C>T	ESP,ExAC,TOPMed,gnomAD
rs1220953684	p.Glu423Asp	missense variant	-	NC_000007.14:g.92117126T>G	TOPMed,gnomAD
rs780433685	p.Arg424Cys	missense variant	-	NC_000007.14:g.92117125G>A	ExAC,TOPMed,gnomAD
rs746098957	p.Arg424His	missense variant	-	NC_000007.14:g.92117124C>T	ExAC,TOPMed,gnomAD
rs746098957	p.Arg424Pro	missense variant	-	NC_000007.14:g.92117124C>G	ExAC,TOPMed,gnomAD
rs993711407	p.Asp426Asn	missense variant	-	NC_000007.14:g.92117119C>T	TOPMed
rs779212176	p.Asp430His	missense variant	-	NC_000007.14:g.92117107C>G	ExAC,TOPMed,gnomAD
rs757428909	p.Arg431Cys	missense variant	-	NC_000007.14:g.92117104G>A	ExAC,TOPMed,gnomAD
rs138109473	p.Arg431His	missense variant	-	NC_000007.14:g.92117103C>T	ESP,ExAC,TOPMed,gnomAD
rs1163959642	p.Tyr432Asp	missense variant	-	NC_000007.14:g.92117101A>C	TOPMed,gnomAD
rs1489682758	p.Gln434His	missense variant	-	NC_000007.14:g.92117093C>A	TOPMed
rs751356152	p.Gln434Arg	missense variant	-	NC_000007.14:g.92117094T>C	ExAC,gnomAD
rs145599211	p.Gln434Ter	stop gained	-	NC_000007.14:g.92117095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145599211	p.Gln434Glu	missense variant	-	NC_000007.14:g.92117095G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766179147	p.Asp435Glu	missense variant	-	NC_000007.14:g.92117090A>C	ExAC,gnomAD
rs59683852	p.Pro437Ser	missense variant	-	NC_000007.14:g.92117086G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764811569	p.Glu441Lys	missense variant	-	NC_000007.14:g.92117074C>T	ExAC,gnomAD
rs1036173048	p.Ala444Val	missense variant	-	NC_000007.14:g.92117064G>A	TOPMed
rs1254493611	p.Tyr445Cys	missense variant	-	NC_000007.14:g.92117061T>C	gnomAD
NCI-TCGA novel	p.Pro447Gln	missense variant	-	NC_000007.14:g.92117055G>T	NCI-TCGA
rs776078855	p.Ala450Val	missense variant	-	NC_000007.14:g.92117046G>A	ExAC,gnomAD
rs528934873	p.Arg452His	missense variant	-	NC_000007.14:g.92113840C>T	ExAC,TOPMed,gnomAD
rs779786966	p.Arg452Cys	missense variant	-	NC_000007.14:g.92113841G>A	ExAC,TOPMed,gnomAD
rs779786966	p.Arg452Ser	missense variant	-	NC_000007.14:g.92113841G>T	ExAC,TOPMed,gnomAD
rs1355666477	p.His453Asn	missense variant	-	NC_000007.14:g.92113838G>T	TOPMed
rs542915180	p.Arg454His	missense variant	-	NC_000007.14:g.92113834C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764899491	p.Arg454Cys	missense variant	-	NC_000007.14:g.92113835G>A	ExAC,gnomAD
rs1449788005	p.Ile456Thr	missense variant	-	NC_000007.14:g.92113828A>G	gnomAD
rs1159509770	p.Glu458Lys	missense variant	-	NC_000007.14:g.92113823C>T	gnomAD
NCI-TCGA novel	p.Glu458GlyPheSerTerUnk	frameshift	-	NC_000007.14:g.92113822_92113823insC	NCI-TCGA
NCI-TCGA novel	p.Asn459Thr	missense variant	-	NC_000007.14:g.92113819T>G	NCI-TCGA
rs563098505	p.Tyr462Asn	missense variant	-	NC_000007.14:g.92113811A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1274304469	p.Tyr462Cys	missense variant	-	NC_000007.14:g.92113810T>C	TOPMed
rs563098505	p.Tyr462Asp	missense variant	-	NC_000007.14:g.92113811A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs563098505	p.Tyr462His	missense variant	-	NC_000007.14:g.92113811A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs771331933	p.Val463Ile	missense variant	-	NC_000007.14:g.92113808C>T	ExAC,gnomAD
rs749505034	p.Gln464His	missense variant	-	NC_000007.14:g.92113803T>A	ExAC,gnomAD
rs1203413597	p.Lys466Glu	missense variant	-	NC_000007.14:g.92113799T>C	TOPMed
rs55756240	p.Lys466Arg	missense variant	-	NC_000007.14:g.92113798T>C	ExAC,gnomAD
rs748115797	p.Thr467Lys	missense variant	-	NC_000007.14:g.92113795G>T	ExAC,TOPMed,gnomAD
rs748115797	p.Thr467Ile	missense variant	-	NC_000007.14:g.92113795G>A	ExAC,TOPMed,gnomAD
rs1258756687	p.Ile468Val	missense variant	-	NC_000007.14:g.92113793T>C	gnomAD
rs780062271	p.Trp469Cys	missense variant	-	NC_000007.14:g.92113788C>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr471Ile	missense variant	-	NC_000007.14:g.92113783G>A	NCI-TCGA
rs1322293569	p.Met472Val	missense variant	-	NC_000007.14:g.92113781T>C	gnomAD
rs1046740950	p.Arg474His	missense variant	-	NC_000007.14:g.92113774C>T	TOPMed,gnomAD
rs1046740950	p.Arg474Pro	missense variant	-	NC_000007.14:g.92113774C>G	TOPMed,gnomAD
rs1433918477	p.Leu480Phe	missense variant	-	NC_000007.14:g.92113757G>A	gnomAD
rs145784242	p.Ile481Thr	missense variant	-	NC_000007.14:g.92113753A>G	ESP,TOPMed
rs756970996	p.Ile481Phe	missense variant	-	NC_000007.14:g.92113754T>A	ExAC,TOPMed,gnomAD
rs763598087	p.Asp482Val	missense variant	-	NC_000007.14:g.92113750T>A	ExAC,gnomAD
COSM3883344	p.Gly483Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92113747C>A	NCI-TCGA Cosmic
rs1416184857	p.Gly483Arg	missense variant	-	NC_000007.14:g.92113748C>T	TOPMed
rs577654665	p.Phe485Leu	missense variant	-	NC_000007.14:g.92113740A>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro486Leu	missense variant	-	NC_000007.14:g.92113738G>A	NCI-TCGA
rs1339561444	p.Val488Leu	missense variant	-	NC_000007.14:g.92113733C>G	TOPMed
COSM1092993	p.Asn489Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92113729T>G	NCI-TCGA Cosmic
rs1227488093	p.Thr492Ile	missense variant	-	NC_000007.14:g.92113720G>A	TOPMed
rs768113032	p.Thr492Ala	missense variant	-	NC_000007.14:g.92113721T>C	ExAC,gnomAD
rs749633381	p.Met493Val	missense variant	-	NC_000007.14:g.92113718T>C	gnomAD
rs760102740	p.Thr496Ile	missense variant	-	NC_000007.14:g.92113708G>A	ExAC,gnomAD
rs1211444067	p.Asn499Tyr	missense variant	-	NC_000007.14:g.92113700T>A	gnomAD
rs763338165	p.Pro500Ser	missense variant	-	NC_000007.14:g.92113697G>A	ExAC,TOPMed,gnomAD
rs773579832	p.Pro500Arg	missense variant	-	NC_000007.14:g.92113696G>C	ExAC,gnomAD
rs538826307	p.Arg503Cys	missense variant	-	NC_000007.14:g.92113688G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs573070525	p.Arg503His	missense variant	-	NC_000007.14:g.92113687C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776540678	p.Arg506Gln	missense variant	-	NC_000007.14:g.92113678C>T	ExAC,gnomAD
rs1371070288	p.Arg506Ter	stop gained	-	NC_000007.14:g.92113679G>A	gnomAD
rs553164028	p.Arg507Lys	missense variant	-	NC_000007.14:g.92113675C>T	1000Genomes,ExAC,gnomAD
rs202233563	p.Ser508Thr	missense variant	-	NC_000007.14:g.92113673A>T	1000Genomes,ExAC,gnomAD
rs757058637	p.Ter510Leu	stop lost	-	NC_000007.14:g.92113666C>A	ExAC,gnomAD
RCV000762457	p.Ter510Leu	stop lost	-	NC_000007.14:g.92113666C>A	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0010414	Infection by Cryptococcus neoformans	disease	BEFREE
C0022283	Incontinentia Pigmenti Achromians	disease	BEFREE
C0023290	Leishmaniasis, Visceral	disease	BEFREE
C0023980	Longevity	phenotype	GWASCAT
C0026946	Mycoses	group	BEFREE
C0041234	Chagas Disease	disease	BEFREE
C0086543	Cataract	disease	GENOMICS_ENGLAND
C0220724	CONSTRICTING BANDS, CONGENITAL	disease	BEFREE
C0238013	Invasive aspergillosis	disease	BEFREE
C0276653	Invasive Pulmonary Aspergillosis	disease	BEFREE
C2936791	Antley-Bixler Syndrome, Autosomal Dominant	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1655829	Regulation of cholesterol biosynthesis by SREBP (SREBF)	TAS
R-HSA-191273	Cholesterol biosynthesis	TAS
R-HSA-211859	Biological oxidations	TAS
R-HSA-211897	Cytochrome P450 - arranged by substrate type	TAS
R-HSA-211945	Phase I - Functionalization of compounds	TAS
R-HSA-211976	Endogenous sterols	TAS
R-HSA-2426168	Activation of gene expression by SREBF (SREBP)	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-8957322	Metabolism of steroids	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C059675	14-methylergosta-8,24(28)-dien-3,6-diol	CYP51A1 gene inhibits the reaction [Fluconazole results in decreased metabolism of and results in increased abundance of 14-methylergosta-8,24(28)-dien-3,6-diol]	18694951
C059675	14-methylergosta-8,24(28)-dien-3,6-diol	CYP51A1 gene inhibits the reaction [Itraconazole results in decreased metabolism of and results in increased abundance of 14-methylergosta-8,24(28)-dien-3,6-diol]	18694951
C059675	14-methylergosta-8,24(28)-dien-3,6-diol	CYP51A1 gene inhibits the reaction [Ketoconazole results in decreased metabolism of and results in increased abundance of 14-methylergosta-8,24(28)-dien-3,6-diol]	18694951
C059675	14-methylergosta-8,24(28)-dien-3,6-diol	CYP51A1 gene inhibits the reaction [Voriconazole results in decreased metabolism of and results in increased abundance of 14-methylergosta-8,24(28)-dien-3,6-diol]	18694951
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of CYP51A1 mRNA	28628672
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether affects the expression of CYP51A1 mRNA	31173147
C003585	22-hydroxycholesterol	22-hydroxycholesterol results in decreased expression of CYP51A1 mRNA	19426978
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of CYP51A1 mRNA	22079614
C020738	9,10-dihydro-9,10-dihydroxybenzo(a)pyrene	9,10-dihydro-9,10-dihydroxybenzo(a)pyrene results in decreased expression of CYP51A1 mRNA	26238291
C496492	abrine	abrine results in decreased expression of CYP51A1 protein	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of CYP51A1 mRNA	21420995; 29067470;
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of CYP51A1 mRNA	27153756
D001151	Arsenic	Arsenic affects the methylation of CYP51A1 gene	25304211
C082410	azalanstat	azalanstat results in decreased activity of CYP51A1 protein	17432820
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of CYP51A1 mRNA	21632981; 26238291;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of CYP51A1 mRNA	20127859
C036596	bifonazole	bifonazole results in decreased activity of CYP51A1 protein	16989930
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of CYP51A1 mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of CYP51A1 mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased expression of CYP51A1 mRNA	25181051
C083642	bitertanol	bitertanol results in decreased activity of CYP51A1 protein	16989930
D002945	Cisplatin	Cisplatin affects the expression of CYP51A1 mRNA	27594783
D003022	Clotrimazole	Clotrimazole results in decreased activity of CYP51A1 protein	16989930
D003022	Clotrimazole	CYP51A1 gene results in decreased susceptibility to Clotrimazole	18694951
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of CYP51A1 mRNA	19320972
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of CYP51A1 mRNA	19549813
D003375	Coumestrol	Coumestrol results in increased expression of CYP51A1 mRNA	19167446
D016572	Cyclosporine	Cyclosporine results in decreased expression of CYP51A1 mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in increased expression of CYP51A1 mRNA	27989131
C093628	cyproconazole	cyproconazole results in decreased activity of CYP51A1 protein	16989930
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of CYP51A1 mRNA	28628672
D004008	Diclofenac	Diclofenac metabolite results in decreased activity of CYP51A1 protein	28960974
D013759	Dronabinol	Dronabinol results in decreased expression of CYP51A1 mRNA	18454173
D004464	Econazole	CYP51A1 gene results in decreased susceptibility to Econazole	18694951
C017435	enilconazole	enilconazole results in decreased activity of CYP51A1 protein	16989930
C109476	epoxiconazole	epoxiconazole results in decreased activity of CYP51A1 protein	16989930
D004875	Ergosterol	CYP51A1 gene inhibits the reaction [Fluconazole results in decreased chemical synthesis of Ergosterol]	18694951
D004875	Ergosterol	CYP51A1 gene inhibits the reaction [Itraconazole results in decreased chemical synthesis of Ergosterol]	18694951
D004875	Ergosterol	CYP51A1 gene inhibits the reaction [Ketoconazole results in decreased chemical synthesis of Ergosterol]	18694951
D004875	Ergosterol	CYP51A1 gene inhibits the reaction [Voriconazole results in decreased chemical synthesis of Ergosterol]	18694951
D000069347	Erlotinib Hydrochloride	CYP51A1 mRNA results in increased susceptibility to Erlotinib Hydrochloride	23125191
D004958	Estradiol	Estradiol results in increased expression of CYP51A1 mRNA	19167446
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of CYP51A1 mRNA	23649840
D017316	Fadrozole	Fadrozole results in decreased activity of CYP51A1 protein	16989930
D017313	Fenretinide	Fenretinide results in decreased expression of CYP51A1 mRNA	28973697
C082360	fipronil	fipronil results in increased expression of CYP51A1 mRNA	27091632
D015725	Fluconazole	CYP51A1 gene inhibits the reaction [Fluconazole results in decreased chemical synthesis of Ergosterol]	18694951
D015725	Fluconazole	CYP51A1 gene inhibits the reaction [Fluconazole results in decreased metabolism of and results in increased abundance of 14-methylergosta-8,24(28)-dien-3,6-diol]	18694951
D015725	Fluconazole	CYP51A1 gene inhibits the reaction [Fluconazole results in decreased metabolism of and results in increased abundance of Lanosterol]	18694951
D015725	Fluconazole	CYP51A1 gene results in decreased susceptibility to Fluconazole	18694951
D015725	Fluconazole	Fluconazole results in decreased activity of CYP51A1 protein	16989930
D005472	Fluorouracil	CYP51A1 protein affects the susceptibility to Fluorouracil	16217747
C061365	flusilazole	flusilazole results in decreased activity of CYP51A1 protein	16989930
D005557	Formaldehyde	Formaldehyde results in decreased expression of CYP51A1 mRNA	23649840
C409722	hexaconazole	hexaconazole results in decreased activity of CYP51A1 protein	16989930
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of CYP51A1 mRNA	21179406
D006861	Hydrogen Peroxide	[isoquercitrin co-treated with Hydrogen Peroxide] results in increased expression of CYP51A1 mRNA	18032389
C492448	ICG 001	ICG 001 results in decreased expression of CYP51A1 mRNA	26191083
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in increased expression of CYP51A1 mRNA	29522793
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of CYP51A1 mRNA	28628672
C016527	isoquercitrin	[isoquercitrin co-treated with Hydrogen Peroxide] results in increased expression of CYP51A1 mRNA	18032389
D015474	Isotretinoin	Isotretinoin results in decreased expression of CYP51A1 mRNA	20436886
D017964	Itraconazole	CYP51A1 gene inhibits the reaction [Itraconazole results in decreased chemical synthesis of Ergosterol]	18694951
D017964	Itraconazole	CYP51A1 gene inhibits the reaction [Itraconazole results in decreased metabolism of and results in increased abundance of 14-methylergosta-8,24(28)-dien-3,6-diol]	18694951
D017964	Itraconazole	CYP51A1 gene inhibits the reaction [Itraconazole results in decreased metabolism of and results in increased abundance of Lanosterol]	18694951
D017964	Itraconazole	CYP51A1 gene results in decreased susceptibility to Itraconazole	18694951
D017964	Itraconazole	Itraconazole results in decreased activity of CYP51A1 protein	16989930
D007654	Ketoconazole	CYP51A1 gene inhibits the reaction [Ketoconazole results in decreased chemical synthesis of Ergosterol]	18694951
D007654	Ketoconazole	CYP51A1 gene inhibits the reaction [Ketoconazole results in decreased metabolism of and results in increased abundance of 14-methylergosta-8,24(28)-dien-3,6-diol]	18694951
D007654	Ketoconazole	CYP51A1 gene inhibits the reaction [Ketoconazole results in decreased metabolism of and results in increased abundance of Lanosterol]	18694951
D007654	Ketoconazole	CYP51A1 gene results in decreased susceptibility to Ketoconazole	18694951
D007654	Ketoconazole	Ketoconazole results in decreased activity of CYP51A1 protein	16989930
D019344	Lactic Acid	Lactic Acid results in increased expression of CYP51A1 mRNA	30851411
C015316	lanostenol	CYP51A1 mRNA results in decreased abundance of lanostenol	23125191
D007810	Lanosterol	CYP51A1 gene inhibits the reaction [Fluconazole results in decreased metabolism of and results in increased abundance of Lanosterol]	18694951
D007810	Lanosterol	CYP51A1 gene inhibits the reaction [Itraconazole results in decreased metabolism of and results in increased abundance of Lanosterol]	18694951
D007810	Lanosterol	CYP51A1 gene inhibits the reaction [Ketoconazole results in decreased metabolism of and results in increased abundance of Lanosterol]	18694951
D007810	Lanosterol	CYP51A1 gene inhibits the reaction [Voriconazole results in decreased metabolism of and results in increased abundance of Lanosterol]	18694951
D000077339	Leflunomide	Leflunomide results in decreased expression of CYP51A1 mRNA	28988120
D000077289	Letrozole	Letrozole results in decreased activity of CYP51A1 protein	16989930
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of CYP51A1 mRNA	23649840
D008825	Miconazole	CYP51A1 gene results in decreased susceptibility to Miconazole	18694951
D008825	Miconazole	Miconazole results in decreased activity of CYP51A1 protein	16989930
C406082	monomethylarsonous acid	monomethylarsonous acid results in decreased expression of CYP51A1 protein	24625837
C523799	MRK 003	MRK 003 results in decreased expression of CYP51A1 mRNA	21169257
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of CYP51A1 mRNA	28673683
C464660	obeticholic acid	obeticholic acid results in decreased expression of CYP51A1 mRNA	27939613
C472349	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine affects the expression of CYP51A1 mRNA	17655762
C472349	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine promotes the reaction [Particulate Matter affects the expression of CYP51A1 mRNA]	17655762
C472349	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine promotes the reaction [Vehicle Emissions affects the expression of CYP51A1 mRNA]	17655762
C472349	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	Particulate Matter promotes the reaction [oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine affects the expression of CYP51A1 mRNA]	17655762
C472349	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	Vehicle Emissions promotes the reaction [oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine affects the expression of CYP51A1 mRNA]	17655762
D015125	Oxyquinoline	Oxyquinoline results in decreased expression of CYP51A1 mRNA	21632981
D052638	Particulate Matter	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine promotes the reaction [Particulate Matter affects the expression of CYP51A1 mRNA]	17655762
D052638	Particulate Matter	Particulate Matter affects the expression of CYP51A1 mRNA	17655762
D052638	Particulate Matter	Particulate Matter promotes the reaction [oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine affects the expression of CYP51A1 mRNA]	17655762
D052638	Particulate Matter	Particulate Matter results in decreased expression of CYP51A1 mRNA	24769257
C087058	penconazole	penconazole results in decreased activity of CYP51A1 protein	16989930
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of CYP51A1 protein	26879310
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of CYP51A1 mRNA	23978341; 25868421;
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of CYP51A1 mRNA	30508572
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of CYP51A1 mRNA	17681415
C027579	periodate-oxidized adenosine	periodate-oxidized adenosine affects the expression of CYP51A1 mRNA	17097637
D010665	Phenylpropanolamine	Phenylpropanolamine results in increased expression of CYP51A1 mRNA	27756839
C006253	pirinixic acid	pirinixic acid results in increased expression of CYP51A1 mRNA	18467677
C006253	pirinixic acid	PPARA protein promotes the reaction [pirinixic acid results in increased expression of CYP51A1 mRNA]	18467677
D010936	Plant Extracts	Plant Extracts results in increased expression of CYP51A1 mRNA	23557933
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of CYP51A1 protein	23718831
C572919	PP242	PP242 results in decreased expression of CYP51A1 mRNA	30679557
C045362	prochloraz	prochloraz results in decreased activity of CYP51A1 protein	16989930
D011374	Progesterone	Progesterone results in increased expression of CYP51A1 mRNA	18070364
C045950	propiconazole	propiconazole results in decreased activity of CYP51A1 protein	16989930
D011794	Quercetin	Quercetin results in decreased expression of CYP51A1 mRNA	21632981
D011794	Quercetin	Quercetin results in decreased expression of CYP51A1 mRNA	16455785
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of CYP51A1 protein	28918527
D000077210	Sunitinib	Sunitinib results in increased expression of CYP51A1 mRNA	31533062
C446685	systhane	systhane results in decreased activity of CYP51A1 protein	16989930
C087114	tebuconazole	tebuconazole results in decreased activity of CYP51A1 protein	16989930
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of CYP51A1 mRNA	28065790
C032910	triadimefon	triadimefon results in decreased activity of CYP51A1 protein	16989930
D014635	Valproic Acid	Valproic Acid affects the expression of CYP51A1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of CYP51A1 mRNA	23179753; 27188386;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of CYP51A1 gene	29154799
D001335	Vehicle Emissions	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine promotes the reaction [Vehicle Emissions affects the expression of CYP51A1 mRNA]	17655762
D001335	Vehicle Emissions	Vehicle Emissions affects the expression of CYP51A1 mRNA	17655762
D001335	Vehicle Emissions	Vehicle Emissions promotes the reaction [oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine affects the expression of CYP51A1 mRNA]	17655762
D065819	Voriconazole	CYP51A1 gene inhibits the reaction [Voriconazole results in decreased chemical synthesis of Ergosterol]	18694951
D065819	Voriconazole	CYP51A1 gene inhibits the reaction [Voriconazole results in decreased metabolism of and results in increased abundance of 14-methylergosta-8,24(28)-dien-3,6-diol]	18694951
D065819	Voriconazole	CYP51A1 gene inhibits the reaction [Voriconazole results in decreased metabolism of and results in increased abundance of Lanosterol]	18694951
D065819	Voriconazole	CYP51A1 gene results in decreased susceptibility to Voriconazole	18694951
C066632	yessotoxin	yessotoxin analog results in increased expression of CYP51A1 mRNA	30679557
D015034	Zinc Oxide	Zinc Oxide affects the expression of CYP51A1 mRNA	28648595
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of CYP51A1 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0349	Heme
KW-0408	Iron
KW-0472	Membrane
KW-0479	Metal-binding
KW-0503	Monooxygenase
KW-0560	Oxidoreductase
KW-1267	Proteomics identification
KW-1185	Reference proteome
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

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: CYP51A1

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