CleftGeneDB-Search

Gene: DVL2

Basic information

Tag	Content
Uniprot ID	O14641; D3DTN3; Q53XM0;
Entrez ID	1856
Genbank protein ID	EAW90244.1; AAB65243.1; EAW90245.1; AAP88824.1; AAH14844.1;
Genbank nucleotide ID	NM_004422.2
Ensembl protein ID	ENSP00000005340
Ensembl nucleotide ID	ENSG00000004975
Gene name	Segment polarity protein dishevelled homolog DVL-2
Gene symbol	DVL2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	26602496; 22887353;
Functional description	Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Participates both in canonical and non-canonical Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling.
Sequence	MAGSSTGGGG VGETKVIYHL DEEETPYLVK IPVPAERITL GDFKSVLQRP AGAKYFFKSM 60 DQDFGVVKEE ISDDNARLPC FNGRVVSWLV SSDNPQPEMA PPVHEPRAEL APPAPPLPPL 120 PPERTSGIGD SRPPSFHPNV SSSHENLEPE TETESVVSLR RERPRRRDSS EHGAGGHRTG 180 GPSRLERHLA GYESSSTLMT SELESTSLGD SDEEDTMSRF SSSTEQSSAS RLLKRHRRRR 240 KQRPPRLERT SSFSSVTDST MSLNIITVTL NMEKYNFLGI SIVGQSNERG DGGIYIGSIM 300 KGGAVAADGR IEPGDMLLQV NDMNFENMSN DDAVRVLRDI VHKPGPIVLT VAKCWDPSPQ 360 AYFTLPRNEP IQPIDPAAWV SHSAALTGTF PAYPGSSSMS TITSGSSLPD GCEGRGLSVH 420 TDMASVTKAM AAPESGLEVR DRMWLKITIP NAFLGSDVVD WLYHHVEGFP ERREARKYAS 480 GLLKAGLIRH TVNKITFSEQ CYYVFGDLSG GCESYLVNLS LNDNDGSSGA SDQDTLAPLP 540 GATPWPLLPT FSYQYPAPHP YSPQPPPYHE LSSYTYGGGS ASSQHSEGSR SSGSTRSDGG 600 AGRTGRPEER APESKSGSGS ESEPSSRGGS LRRGGEASGT SDGGPPPSRG STGGAPNLRA 660 HPGLHPYGPP PGMALPYNPM MVVMMPPPPP PVPPAVQPPG APPVRDLGSV PPELTASRQS 720 FHMAMGNPSE FFVDVM 736

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

PDB ID
2REY
3CBX
3CBY
3CBZ
3CC0
4WIP
5LNP
5SUY
5SUZ
6IW3
6JCK
3CBZ
5SUZ
6IW3

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	DVL2		A0A452G485		Capra hircus	Prediction	More>>
1:1 ortholog	DVL2	1856	O14641	CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Dvl2	13543	Q60838		Mus musculus	Prediction	More>>
1:1 ortholog	DVL2	455236	H2QC24		Pan troglodytes	Prediction	More>>
1:1 ortholog	DVL2		A0A287AJQ6		Sus scrofa	Prediction	More>>
1:1 ortholog	Dvl2	303251	D3ZB71		Rattus norvegicus	Prediction	More>>
1:1 ortholog	dvl2		F1QM97		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
DVL2	rs35594616; p.Gln554Gln	PCR-RFLP	22887353
DVL2	rs222850*C	Genotyping	26602496

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1337233293	p.Ala2Glu	missense variant	-	NC_000017.11:g.7234258G>T	gnomAD
rs748460248	p.Gly3Cys	missense variant	-	NC_000017.11:g.7234256C>A	ExAC,gnomAD
rs768855231	p.Gly3Val	missense variant	-	NC_000017.11:g.7234255C>A	ExAC,TOPMed,gnomAD
rs768855231	p.Gly3Asp	missense variant	-	NC_000017.11:g.7234255C>T	ExAC,TOPMed,gnomAD
rs768855231	p.Gly3Ala	missense variant	-	NC_000017.11:g.7234255C>G	ExAC,TOPMed,gnomAD
rs1314140315	p.Ser4Cys	missense variant	-	NC_000017.11:g.7234253T>A	gnomAD
rs1432813408	p.Ser4Thr	missense variant	-	NC_000017.11:g.7234252C>G	gnomAD
rs886830386	p.Thr6Ala	missense variant	-	NC_000017.11:g.7234247T>C	TOPMed
rs1047268927	p.Gly7Trp	missense variant	-	NC_000017.11:g.7234244C>A	TOPMed
rs757300697	p.Gly8Ser	missense variant	-	NC_000017.11:g.7234241C>T	ExAC,gnomAD
rs777685857	p.Gly9Ser	missense variant	-	NC_000017.11:g.7234238C>T	ExAC,gnomAD
rs752473480	p.Gly10Glu	missense variant	-	NC_000017.11:g.7234234C>T	ExAC,gnomAD
rs767091471	p.Val11Phe	missense variant	-	NC_000017.11:g.7234232C>A	ExAC,gnomAD
rs754572995	p.Val11Gly	missense variant	-	NC_000017.11:g.7234231A>C	ExAC,TOPMed,gnomAD
rs754572995	p.Val11Ala	missense variant	-	NC_000017.11:g.7234231A>G	ExAC,TOPMed,gnomAD
rs1185832424	p.Gly12Glu	missense variant	-	NC_000017.11:g.7234228C>T	gnomAD
NCI-TCGA novel	p.Gly12Val	missense variant	-	NC_000017.11:g.7234228C>A	NCI-TCGA
NCI-TCGA novel	p.Glu13Asp	missense variant	-	NC_000017.11:g.7234224C>A	NCI-TCGA
rs1285573350	p.Lys15Arg	missense variant	-	NC_000017.11:g.7234219T>C	gnomAD
rs765841121	p.Val16Met	missense variant	-	NC_000017.11:g.7234217C>T	ExAC,TOPMed,gnomAD
rs763284855	p.Asp21Tyr	missense variant	-	NC_000017.11:g.7234202C>A	TOPMed,gnomAD
rs773578457	p.Asp21Glu	missense variant	-	NC_000017.11:g.7234200A>C	ExAC,gnomAD
rs1297948842	p.Asp21Val	missense variant	-	NC_000017.11:g.7234201T>A	TOPMed
rs763284855	p.Asp21His	missense variant	-	NC_000017.11:g.7234202C>G	TOPMed,gnomAD
rs1412344911	p.Glu22Lys	missense variant	-	NC_000017.11:g.7234199C>T	gnomAD
rs1318871106	p.Glu23Gly	missense variant	-	NC_000017.11:g.7234195T>C	gnomAD
rs765699246	p.Glu23Lys	missense variant	-	NC_000017.11:g.7234196C>T	ExAC,gnomAD
rs776994069	p.Glu24Asp	missense variant	-	NC_000017.11:g.7234191C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu24Asp	missense variant	-	NC_000017.11:g.7234191C>A	NCI-TCGA
NCI-TCGA novel	p.Glu24Gln	missense variant	-	NC_000017.11:g.7234193C>G	NCI-TCGA
rs983186756	p.Pro26Leu	missense variant	-	NC_000017.11:g.7234186G>A	TOPMed
rs1462184716	p.Tyr27His	missense variant	-	NC_000017.11:g.7234184A>G	gnomAD
rs747204709	p.Tyr27Cys	missense variant	-	NC_000017.11:g.7234183T>C	ExAC,gnomAD
rs772266124	p.Leu28Val	missense variant	-	NC_000017.11:g.7234181G>C	ExAC,gnomAD
rs749308726	p.Ile31Met	missense variant	-	NC_000017.11:g.7234170G>C	ExAC,gnomAD
rs930397233	p.Pro32Ser	missense variant	-	NC_000017.11:g.7234169G>A	TOPMed,gnomAD
rs1195960792	p.Pro32Leu	missense variant	-	NC_000017.11:g.7234168G>A	gnomAD
rs139256869	p.Glu36Gln	missense variant	-	NC_000017.11:g.7234157C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6148076	p.Arg37Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7234153C>A	NCI-TCGA Cosmic
rs747920943	p.Leu40Phe	missense variant	-	NC_000017.11:g.7234145G>A	ExAC,gnomAD
rs754662745	p.Asp42Asn	missense variant	-	NC_000017.11:g.7234139C>T	ExAC,gnomAD
rs911793509	p.Phe43Leu	missense variant	-	NC_000017.11:g.7234134G>C	TOPMed,gnomAD
rs751187480	p.Lys44Arg	missense variant	-	NC_000017.11:g.7234132T>C	ExAC,gnomAD
rs779593062	p.Gln48His	missense variant	-	NC_000017.11:g.7234119C>A	ExAC,gnomAD
rs1441322786	p.Arg49Leu	missense variant	-	NC_000017.11:g.7234117C>A	TOPMed,gnomAD
rs1441322786	p.Arg49Gln	missense variant	-	NC_000017.11:g.7234117C>T	TOPMed,gnomAD
rs757899070	p.Arg49Trp	missense variant	-	NC_000017.11:g.7234118G>A	ExAC,gnomAD
rs1425940777	p.Ala51Val	missense variant	-	NC_000017.11:g.7234111G>A	TOPMed
rs913277429	p.Ala51Pro	missense variant	-	NC_000017.11:g.7234112C>G	TOPMed
rs765675161	p.Gly52Ser	missense variant	-	NC_000017.11:g.7234109C>T	ExAC,gnomAD
rs1169678933	p.Ala53Thr	missense variant	-	NC_000017.11:g.7234106C>T	gnomAD
rs149736410	p.Ala53Gly	missense variant	-	NC_000017.11:g.7234105G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149736410	p.Ala53Val	missense variant	-	NC_000017.11:g.7234105G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761035601	p.Lys54Gln	missense variant	-	NC_000017.11:g.7234103T>G	ExAC,gnomAD
rs1470094862	p.Lys54Thr	missense variant	-	NC_000017.11:g.7234102T>G	gnomAD
rs775855221	p.Tyr55Ter	stop gained	-	NC_000017.11:g.7234098G>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe57SerPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.7234093A>-	NCI-TCGA
rs139652472	p.Met60Val	missense variant	-	NC_000017.11:g.7234085T>C	ESP,ExAC,TOPMed,gnomAD
rs759551403	p.Met60Thr	missense variant	-	NC_000017.11:g.7234084A>G	ExAC,gnomAD
COSM983863	p.Asp61Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7234082C>T	NCI-TCGA Cosmic
rs1462629707	p.Val66Met	missense variant	-	NC_000017.11:g.7230796C>T	TOPMed,gnomAD
rs756728574	p.Val66Gly	missense variant	-	NC_000017.11:g.7230795A>C	ExAC,gnomAD
rs1317930532	p.Lys68Arg	missense variant	-	NC_000017.11:g.7230789T>C	TOPMed
COSM983849	p.Glu69Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7230785T>G	NCI-TCGA Cosmic
rs945313962	p.Glu69Lys	missense variant	-	NC_000017.11:g.7230787C>T	gnomAD
rs755362094	p.Glu70Asp	missense variant	-	NC_000017.11:g.7230782T>G	ExAC,gnomAD
rs1215823324	p.Asp73Gly	missense variant	-	NC_000017.11:g.7230774T>C	gnomAD
rs1264988936	p.Ala76Asp	missense variant	-	NC_000017.11:g.7230765G>T	gnomAD
rs1282730801	p.Ala76Thr	missense variant	-	NC_000017.11:g.7230766C>T	TOPMed,gnomAD
rs143043931	p.Arg77His	missense variant	-	NC_000017.11:g.7230762C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758501117	p.Arg77Cys	missense variant	-	NC_000017.11:g.7230763G>A	ExAC,TOPMed,gnomAD
COSM6081581	p.Pro79Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7230756G>A	NCI-TCGA Cosmic
rs767291565	p.Gly83Arg	missense variant	-	NC_000017.11:g.7230745C>G	ExAC,TOPMed,gnomAD
rs767291565	p.Gly83Arg	missense variant	-	NC_000017.11:g.7230745C>T	ExAC,TOPMed,gnomAD
rs1343726628	p.Arg84Ser	missense variant	-	NC_000017.11:g.7230740C>A	TOPMed
rs1306028020	p.Val85Leu	missense variant	-	NC_000017.11:g.7230739C>A	gnomAD
rs1467639055	p.Ser87Phe	missense variant	-	NC_000017.11:g.7230732G>A	TOPMed
NCI-TCGA novel	p.Leu89HisPheSerTerUnk	frameshift	-	NC_000017.11:g.7230429_7230430insTCCTTCCAGT	NCI-TCGA
rs564573436	p.Val90Met	missense variant	-	NC_000017.11:g.7230427C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs564573436	p.Val90Leu	missense variant	-	NC_000017.11:g.7230427C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs564573436	p.Val90Leu	missense variant	-	NC_000017.11:g.7230427C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs139045197	p.Ser91Phe	missense variant	-	NC_000017.11:g.7230423G>A	ESP,ExAC,TOPMed,gnomAD
rs139045197	p.Ser91Tyr	missense variant	-	NC_000017.11:g.7230423G>T	ESP,ExAC,TOPMed,gnomAD
rs936419179	p.Asp93Gly	missense variant	-	NC_000017.11:g.7230417T>C	TOPMed
rs772992689	p.Pro95Arg	missense variant	-	NC_000017.11:g.7230411G>C	ExAC,gnomAD
rs1181517729	p.Pro97Arg	missense variant	-	NC_000017.11:g.7230405G>C	TOPMed,gnomAD
rs1181517729	p.Pro97His	missense variant	-	NC_000017.11:g.7230405G>T	TOPMed,gnomAD
rs376639739	p.Pro97Ser	missense variant	-	NC_000017.11:g.7230406G>A	ESP,ExAC,TOPMed,gnomAD
rs775954963	p.Glu98Lys	missense variant	-	NC_000017.11:g.7230403C>T	ExAC,gnomAD
rs1199153671	p.Glu98Ala	missense variant	-	NC_000017.11:g.7230402T>G	gnomAD
rs769237336	p.Met99Thr	missense variant	-	NC_000017.11:g.7230399A>G	ExAC,TOPMed,gnomAD
rs769237336	p.Met99Lys	missense variant	-	NC_000017.11:g.7230399A>T	ExAC,TOPMed,gnomAD
rs949510439	p.Ala100Pro	missense variant	-	NC_000017.11:g.7230397C>G	TOPMed,gnomAD
rs1261612115	p.Pro101Ser	missense variant	-	NC_000017.11:g.7230394G>A	gnomAD
rs747441206	p.Pro102Leu	missense variant	-	NC_000017.11:g.7230390G>A	ExAC,gnomAD
rs780515259	p.Glu105Ala	missense variant	-	NC_000017.11:g.7230381T>G	ExAC,TOPMed,gnomAD
rs1408686483	p.Pro106Ala	missense variant	-	NC_000017.11:g.7230379G>C	gnomAD
rs962242250	p.Arg107Gln	missense variant	-	NC_000017.11:g.7230375C>T	gnomAD
rs772423522	p.Arg107Trp	missense variant	-	NC_000017.11:g.7230376G>A	ExAC,TOPMed,gnomAD
rs1357342185	p.Ala108Glu	missense variant	-	NC_000017.11:g.7230372G>T	TOPMed
rs746167226	p.Ala108Thr	missense variant	-	NC_000017.11:g.7230373C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala108Val	missense variant	-	NC_000017.11:g.7230372G>A	NCI-TCGA
rs541691960	p.Glu109Ala	missense variant	-	NC_000017.11:g.7230369T>G	1000Genomes,ExAC,gnomAD
rs572686087	p.Ala111Pro	missense variant	-	NC_000017.11:g.7230364C>G	1000Genomes,ExAC,gnomAD
rs572686087	p.Ala111Thr	missense variant	-	NC_000017.11:g.7230364C>T	1000Genomes,ExAC,gnomAD
rs371764720	p.Ala111Val	missense variant	-	NC_000017.11:g.7230363G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367665319	p.Ala114Val	missense variant	-	NC_000017.11:g.7230354G>A	ESP,ExAC,TOPMed,gnomAD
rs1446493028	p.Pro116Leu	missense variant	-	NC_000017.11:g.7230348G>A	TOPMed
rs1357471224	p.Pro118Leu	missense variant	-	NC_000017.11:g.7230342G>A	gnomAD
rs374951296	p.Pro119Leu	missense variant	-	NC_000017.11:g.7230339G>A	ESP,ExAC,TOPMed,gnomAD
rs374951296	p.Pro119Arg	missense variant	-	NC_000017.11:g.7230339G>C	ESP,ExAC,TOPMed,gnomAD
rs1260206520	p.Pro122Leu	missense variant	-	NC_000017.11:g.7230330G>A	TOPMed
rs761312377	p.Glu123Lys	missense variant	-	NC_000017.11:g.7230328C>T	ExAC,TOPMed,gnomAD
rs772512773	p.Thr125Ile	missense variant	-	NC_000017.11:g.7230321G>A	ExAC,gnomAD
rs775865389	p.Thr125Pro	missense variant	-	NC_000017.11:g.7230322T>G	ExAC,gnomAD
rs1334926130	p.Ser126Ile	missense variant	-	NC_000017.11:g.7230318C>A	gnomAD
rs1385306342	p.Gly127Asp	missense variant	-	NC_000017.11:g.7230315C>T	TOPMed
rs148130258	p.Gly127Ser	missense variant	-	NC_000017.11:g.7230316C>T	ESP,ExAC,TOPMed,gnomAD
rs771185372	p.Ile128Thr	missense variant	-	NC_000017.11:g.7230312A>G	ExAC,TOPMed,gnomAD
rs370365396	p.Gly129Glu	missense variant	-	NC_000017.11:g.7230309C>T	ESP,ExAC,TOPMed,gnomAD
rs370365396	p.Gly129Ala	missense variant	-	NC_000017.11:g.7230309C>G	ESP,ExAC,TOPMed,gnomAD
rs368505041	p.Asp130Gly	missense variant	-	NC_000017.11:g.7230306T>C	ESP,ExAC,TOPMed,gnomAD
rs1376778076	p.Asp130Asn	missense variant	-	NC_000017.11:g.7230307C>T	TOPMed
rs965108461	p.Ser131Pro	missense variant	-	NC_000017.11:g.7230304A>G	gnomAD
rs748188334	p.Pro133Arg	missense variant	-	NC_000017.11:g.7230297G>C	ExAC,gnomAD
rs780150593	p.Pro134Ser	missense variant	-	NC_000017.11:g.7230295G>A	ExAC,TOPMed,gnomAD
rs758359254	p.Pro134Leu	missense variant	-	NC_000017.11:g.7230294G>A	ExAC,gnomAD
rs1374139285	p.Phe136Ser	missense variant	-	NC_000017.11:g.7230288A>G	gnomAD
rs765091992	p.Phe136Leu	missense variant	-	NC_000017.11:g.7230289A>G	ExAC,gnomAD
rs557081344	p.His137Tyr	missense variant	-	NC_000017.11:g.7230286G>A	1000Genomes,ExAC,gnomAD
rs954292534	p.Pro138Arg	missense variant	-	NC_000017.11:g.7230153G>C	TOPMed,gnomAD
rs760097668	p.Asn139Asp	missense variant	-	NC_000017.11:g.7230151T>C	ExAC,TOPMed,gnomAD
COSM4069213	p.Ser141Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7230144G>T	NCI-TCGA Cosmic
rs763236259	p.Ser143Asn	missense variant	-	NC_000017.11:g.7230138C>T	ExAC,gnomAD
rs766801484	p.Ser143Gly	missense variant	-	NC_000017.11:g.7230139T>C	ExAC,gnomAD
rs1370447669	p.His144Arg	missense variant	-	NC_000017.11:g.7230135T>C	gnomAD
rs769938313	p.Asn146Ile	missense variant	-	NC_000017.11:g.7230129T>A	ExAC,gnomAD
rs768843844	p.Glu148Gln	missense variant	-	NC_000017.11:g.7230124C>G	ExAC,TOPMed,gnomAD
rs1477467720	p.Glu148Val	missense variant	-	NC_000017.11:g.7230123T>A	gnomAD
NCI-TCGA novel	p.Pro149Leu	missense variant	-	NC_000017.11:g.7230120G>A	NCI-TCGA
rs745866879	p.Glu150Asp	missense variant	-	NC_000017.11:g.7230116C>G	ExAC,gnomAD
rs1183686651	p.Thr153Ile	missense variant	-	NC_000017.11:g.7230108G>A	gnomAD
rs1211436817	p.Glu154Gly	missense variant	-	NC_000017.11:g.7230105T>C	gnomAD
rs200283908	p.Glu154Lys	missense variant	-	NC_000017.11:g.7230106C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200283908	p.Glu154Gln	missense variant	-	NC_000017.11:g.7230106C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749070452	p.Glu154Asp	missense variant	-	NC_000017.11:g.7230104C>G	ExAC,gnomAD
rs1296596617	p.Ser155Ala	missense variant	-	NC_000017.11:g.7230103A>C	gnomAD
rs772035489	p.Val156Ala	missense variant	-	NC_000017.11:g.7230099A>G	ExAC,gnomAD
rs755774216	p.Val157Ala	missense variant	-	NC_000017.11:g.7230096A>G	ExAC,gnomAD
rs149000857	p.Arg160Ser	missense variant	-	NC_000017.11:g.7230086C>A	ESP,ExAC,TOPMed,gnomAD
rs751008671	p.Arg161Gln	missense variant	-	NC_000017.11:g.7230084C>T	ExAC,gnomAD
rs374072094	p.Arg161Trp	missense variant	-	NC_000017.11:g.7230085G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766815245	p.Glu162Gly	missense variant	-	NC_000017.11:g.7230081T>C	ExAC,gnomAD
rs1015638798	p.Glu162Lys	missense variant	-	NC_000017.11:g.7230082C>T	TOPMed
rs750791561	p.Arg163Leu	missense variant	-	NC_000017.11:g.7230078C>A	ExAC,TOPMed,gnomAD
rs750791561	p.Arg163Gln	missense variant	-	NC_000017.11:g.7230078C>T	ExAC,TOPMed,gnomAD
rs763473965	p.Arg163Trp	missense variant	-	NC_000017.11:g.7230079G>A	ExAC,gnomAD
rs144205338	p.Arg165His	missense variant	-	NC_000017.11:g.7230072C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs144205338	p.Arg165Leu	missense variant	-	NC_000017.11:g.7230072C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs909393329	p.Arg165Cys	missense variant	-	NC_000017.11:g.7230073G>A	TOPMed
rs760859355	p.Arg167Gly	missense variant	-	NC_000017.11:g.7230067T>C	ExAC,TOPMed,gnomAD
rs920906597	p.Asp168Glu	missense variant	-	NC_000017.11:g.7230062G>C	gnomAD
rs1055453354	p.Ser170Gly	missense variant	-	NC_000017.11:g.7230058T>C	TOPMed,gnomAD
rs1484168508	p.Gly173Asp	missense variant	-	NC_000017.11:g.7230048C>T	gnomAD
rs564690047	p.Ala174Thr	missense variant	-	NC_000017.11:g.7230046C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747955638	p.Gly176Asp	missense variant	-	NC_000017.11:g.7229937C>T	ExAC,gnomAD
rs1186420528	p.His177Arg	missense variant	-	NC_000017.11:g.7229934T>C	TOPMed,gnomAD
rs932816570	p.His177Asn	missense variant	-	NC_000017.11:g.7229935G>T	TOPMed
rs1476824170	p.Arg178Gly	missense variant	-	NC_000017.11:g.7229932T>C	TOPMed
rs1449137915	p.Arg178Thr	missense variant	-	NC_000017.11:g.7229931C>G	gnomAD
rs1268312758	p.Thr179Ser	missense variant	-	NC_000017.11:g.7229928G>C	TOPMed,gnomAD
rs1268312758	p.Thr179Ile	missense variant	-	NC_000017.11:g.7229928G>A	TOPMed,gnomAD
rs11549559	p.Gly181Ala	missense variant	-	NC_000017.11:g.7229922C>G	gnomAD
rs11549559	p.Gly181Val	missense variant	-	NC_000017.11:g.7229922C>A	gnomAD
rs1455040451	p.Glu186Lys	missense variant	-	NC_000017.11:g.7229908C>T	gnomAD
rs956522691	p.Arg187Cys	missense variant	-	NC_000017.11:g.7229905G>A	TOPMed,gnomAD
rs776368265	p.Arg187His	missense variant	-	NC_000017.11:g.7229904C>T	ExAC,TOPMed,gnomAD
rs1032601139	p.His188Arg	missense variant	-	NC_000017.11:g.7229901T>C	TOPMed,gnomAD
rs201978215	p.Gly191Arg	missense variant	-	NC_000017.11:g.7229893C>T	ExAC,TOPMed,gnomAD
rs140761538	p.Tyr192Ter	stop gained	-	NC_000017.11:g.7229888G>C	ESP,ExAC,TOPMed,gnomAD
rs202089648	p.Glu193Lys	missense variant	-	NC_000017.11:g.7229887C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202089648	p.Glu193Gln	missense variant	-	NC_000017.11:g.7229887C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764534021	p.Ser196Cys	missense variant	-	NC_000017.11:g.7229877G>C	ExAC,gnomAD
rs764534021	p.Ser196Phe	missense variant	-	NC_000017.11:g.7229877G>A	ExAC,gnomAD
rs1166555705	p.Met199Val	missense variant	-	NC_000017.11:g.7229869T>C	TOPMed,gnomAD
rs372715697	p.Met199Thr	missense variant	-	NC_000017.11:g.7229868A>G	ESP,ExAC,TOPMed,gnomAD
rs1280759900	p.Thr200Ser	missense variant	-	NC_000017.11:g.7229865G>C	gnomAD
rs1239103487	p.Ser201Arg	missense variant	-	NC_000017.11:g.7229863T>G	TOPMed
rs753893058	p.Ser205Gly	missense variant	-	NC_000017.11:g.7229851T>C	gnomAD
rs1484359181	p.Ser207Thr	missense variant	-	NC_000017.11:g.7229844C>G	gnomAD
rs1212850132	p.Ser207Arg	missense variant	-	NC_000017.11:g.7229845T>G	TOPMed
rs548574495	p.Leu208Met	missense variant	-	NC_000017.11:g.7229842G>T	ExAC,TOPMed,gnomAD
rs548574495	p.Leu208Val	missense variant	-	NC_000017.11:g.7229842G>C	ExAC,TOPMed,gnomAD
rs1258096872	p.Gly209Val	missense variant	-	NC_000017.11:g.7229838C>A	gnomAD
rs768424932	p.Asp210Asn	missense variant	-	NC_000017.11:g.7229836C>T	ExAC,gnomAD
rs746705349	p.Ser211Leu	missense variant	-	NC_000017.11:g.7229832G>A	ExAC,TOPMed,gnomAD
rs746705349	p.Ser211Trp	missense variant	-	NC_000017.11:g.7229832G>C	ExAC,TOPMed,gnomAD
rs1436669933	p.Asp212Asn	missense variant	-	NC_000017.11:g.7229830C>T	TOPMed
rs745415105	p.Asp212Val	missense variant	-	NC_000017.11:g.7229829T>A	ExAC,TOPMed,gnomAD
rs903803977	p.Asp212Glu	missense variant	-	NC_000017.11:g.7229828G>C	TOPMed,gnomAD
rs543488041	p.Glu213Lys	missense variant	-	NC_000017.11:g.7229827C>T	1000Genomes,gnomAD
rs1304344754	p.Glu214Val	missense variant	-	NC_000017.11:g.7229823T>A	gnomAD
rs1402669612	p.Glu214Lys	missense variant	-	NC_000017.11:g.7229824C>T	gnomAD
rs1377277568	p.Asp215Glu	missense variant	-	NC_000017.11:g.7229819G>T	gnomAD
NCI-TCGA novel	p.Asp215Tyr	missense variant	-	NC_000017.11:g.7229821C>A	NCI-TCGA
rs1020549764	p.Thr216Ser	missense variant	-	NC_000017.11:g.7229817G>C	TOPMed,gnomAD
rs1020549764	p.Thr216Ile	missense variant	-	NC_000017.11:g.7229817G>A	TOPMed,gnomAD
rs373945760	p.Met217Val	missense variant	-	NC_000017.11:g.7229815T>C	ESP,TOPMed
COSM983843	p.Ser218Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7229811C>A	NCI-TCGA Cosmic
rs1194539837	p.Phe220Leu	missense variant	-	NC_000017.11:g.7229677A>G	TOPMed
rs758475973	p.Thr224Met	missense variant	-	NC_000017.11:g.7229664G>A	ExAC,TOPMed,gnomAD
rs760499709	p.Gln226His	missense variant	-	NC_000017.11:g.7229657C>G	ExAC,gnomAD
rs764040738	p.Gln226Pro	missense variant	-	NC_000017.11:g.7229658T>G	ExAC,TOPMed,gnomAD
rs764040738	p.Gln226Arg	missense variant	-	NC_000017.11:g.7229658T>C	ExAC,TOPMed,gnomAD
rs1245801292	p.Ser227Arg	missense variant	-	NC_000017.11:g.7229654G>T	gnomAD
rs752587872	p.Ser227Gly	missense variant	-	NC_000017.11:g.7229656T>C	ExAC,gnomAD
rs1237867003	p.Ser228Thr	missense variant	-	NC_000017.11:g.7229652C>G	TOPMed,gnomAD
rs1191948667	p.Ser230Phe	missense variant	-	NC_000017.11:g.7229646G>A	gnomAD
rs374647852	p.Arg231Leu	missense variant	-	NC_000017.11:g.7229643C>A	ESP,ExAC,TOPMed,gnomAD
rs767205489	p.Arg231Cys	missense variant	-	NC_000017.11:g.7229644G>A	ExAC,gnomAD
rs374647852	p.Arg231His	missense variant	-	NC_000017.11:g.7229643C>T	ESP,ExAC,TOPMed,gnomAD
rs1208017156	p.Leu233His	missense variant	-	NC_000017.11:g.7229637A>T	gnomAD
rs200939029	p.Arg235His	missense variant	-	NC_000017.11:g.7229631C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1358619629	p.Arg235Cys	missense variant	-	NC_000017.11:g.7229632G>A	TOPMed,gnomAD
rs140297538	p.Arg237Trp	missense variant	-	NC_000017.11:g.7229626G>A	ESP,ExAC,TOPMed,gnomAD
rs1340378613	p.Arg237Gln	missense variant	-	NC_000017.11:g.7229625C>T	TOPMed,gnomAD
rs1437375230	p.Arg238Gln	missense variant	-	NC_000017.11:g.7229622C>T	TOPMed,gnomAD
rs772812566	p.Arg238Trp	missense variant	-	NC_000017.11:g.7229623G>A	ExAC,TOPMed,gnomAD
rs770368957	p.Arg239Gln	missense variant	-	NC_000017.11:g.7229619C>T	ExAC,TOPMed,gnomAD
rs748577861	p.Arg240Lys	missense variant	-	NC_000017.11:g.7229616C>T	ExAC,gnomAD
rs1276024736	p.Arg240Gly	missense variant	-	NC_000017.11:g.7229617T>C	TOPMed
rs569695349	p.Pro244Leu	missense variant	-	NC_000017.11:g.7229604G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1170935601	p.Pro245Ala	missense variant	-	NC_000017.11:g.7229602G>C	gnomAD
rs1170935601	p.Pro245Ser	missense variant	-	NC_000017.11:g.7229602G>A	gnomAD
NCI-TCGA novel	p.Pro245Leu	missense variant	-	NC_000017.11:g.7229601G>A	NCI-TCGA
rs780268199	p.Arg246His	missense variant	-	NC_000017.11:g.7229598C>T	ExAC,TOPMed,gnomAD
rs151191814	p.Arg246Cys	missense variant	-	NC_000017.11:g.7229599G>A	ESP,ExAC,TOPMed,gnomAD
rs780268199	p.Arg246Pro	missense variant	-	NC_000017.11:g.7229598C>G	ExAC,TOPMed,gnomAD
rs758567595	p.Leu247Val	missense variant	-	NC_000017.11:g.7229596G>C	ExAC,gnomAD
rs1334291468	p.Thr250Met	missense variant	-	NC_000017.11:g.7229446G>A	TOPMed,gnomAD
rs1388762158	p.Ser252Cys	missense variant	-	NC_000017.11:g.7229440G>C	gnomAD
rs926078603	p.Val256Ile	missense variant	-	NC_000017.11:g.7229429C>T	TOPMed,gnomAD
rs1338504848	p.Asp258Gly	missense variant	-	NC_000017.11:g.7229422T>C	TOPMed
rs775890571	p.Asp258Asn	missense variant	-	NC_000017.11:g.7229423C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp258Tyr	missense variant	-	NC_000017.11:g.7229423C>A	NCI-TCGA
rs1183242438	p.Ser259Phe	missense variant	-	NC_000017.11:g.7229419G>A	gnomAD
rs1183242438	p.Ser259Cys	missense variant	-	NC_000017.11:g.7229419G>C	gnomAD
rs1310267621	p.Thr260Ala	missense variant	-	NC_000017.11:g.7229417T>C	TOPMed
rs1310267621	p.Thr260Ser	missense variant	-	NC_000017.11:g.7229417T>A	TOPMed
rs1465498109	p.Thr260Ile	missense variant	-	NC_000017.11:g.7229416G>A	gnomAD
rs1213733089	p.Met261Val	missense variant	-	NC_000017.11:g.7229414T>C	gnomAD
rs1238138830	p.Met261Ile	missense variant	-	NC_000017.11:g.7229412C>T	TOPMed
rs199741414	p.Asn264Asp	missense variant	-	NC_000017.11:g.7229405T>C	ESP,ExAC,TOPMed,gnomAD
rs766953260	p.Asn264Ser	missense variant	-	NC_000017.11:g.7229404T>C	ExAC,TOPMed,gnomAD
rs777874020	p.Ile266Met	missense variant	-	NC_000017.11:g.7229397G>C	ExAC,gnomAD
rs146828816	p.Thr269Arg	missense variant	-	NC_000017.11:g.7229389G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146828816	p.Thr269Met	missense variant	-	NC_000017.11:g.7229389G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778454660	p.Met272Leu	missense variant	-	NC_000017.11:g.7229381T>G	ExAC,gnomAD
rs1162667818	p.Met272Ile	missense variant	-	NC_000017.11:g.7229379C>T	gnomAD
rs778454660	p.Met272Val	missense variant	-	NC_000017.11:g.7229381T>C	ExAC,gnomAD
rs1450401327	p.Glu273Lys	missense variant	-	NC_000017.11:g.7229378C>T	gnomAD
COSM983841	p.Glu273Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7229273C>A	NCI-TCGA Cosmic
rs760053415	p.Lys274Arg	missense variant	-	NC_000017.11:g.7229271T>C	ExAC,TOPMed,gnomAD
rs1301444726	p.Asn276Ser	missense variant	-	NC_000017.11:g.7229265T>C	gnomAD
VAR_064708	p.Ile282Thr	Missense	-	-	UniProt
rs222837	p.Gln285His	missense variant	-	NC_000017.11:g.7229237C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs222837	p.Gln285His	missense variant	-	NC_000017.11:g.7229237C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1399312912	p.Ser286Asn	missense variant	-	NC_000017.11:g.7229235C>T	TOPMed
rs762008450	p.Asn287Ser	missense variant	-	NC_000017.11:g.7229232T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn287His	missense variant	-	NC_000017.11:g.7229233T>G	NCI-TCGA
rs1014496182	p.Glu288Asp	missense variant	-	NC_000017.11:g.7229228C>A	TOPMed,gnomAD
rs775310167	p.Arg289Trp	missense variant	-	NC_000017.11:g.7229227G>A	ExAC,TOPMed,gnomAD
rs772178047	p.Arg289Gln	missense variant	-	NC_000017.11:g.7229226C>T	ExAC,gnomAD
rs774081156	p.Gly292Arg	missense variant	-	NC_000017.11:g.7229218C>T	ExAC,gnomAD
rs1299791075	p.Gly293Asp	missense variant	-	NC_000017.11:g.7229214C>T	TOPMed
NCI-TCGA novel	p.Ile294Met	missense variant	-	NC_000017.11:g.7229210G>C	NCI-TCGA
rs1195587471	p.Ile296Val	missense variant	-	NC_000017.11:g.7229206T>C	gnomAD
rs1480140879	p.Ile299Val	missense variant	-	NC_000017.11:g.7229197T>C	gnomAD
rs368088453	p.Met300Val	missense variant	-	NC_000017.11:g.7229194T>C	ESP,TOPMed
NCI-TCGA novel	p.Met300Arg	missense variant	-	NC_000017.11:g.7229193A>C	NCI-TCGA
NCI-TCGA novel	p.Met300Ile	missense variant	-	NC_000017.11:g.7229192C>T	NCI-TCGA
rs748976501	p.Lys301Arg	missense variant	-	NC_000017.11:g.7229190T>C	ExAC,gnomAD
rs916383550	p.Gly302Ser	missense variant	-	NC_000017.11:g.7229188C>T	gnomAD
rs1316881346	p.Gly302Val	missense variant	-	NC_000017.11:g.7229187C>A	gnomAD
rs777424121	p.Ala306Val	missense variant	-	NC_000017.11:g.7229175G>A	ExAC,gnomAD
rs866911540	p.Asp308Asn	missense variant	-	NC_000017.11:g.7229170C>T	gnomAD
rs866911540	p.Asp308Tyr	missense variant	-	NC_000017.11:g.7229170C>A	gnomAD
rs752107513	p.Gly309Arg	missense variant	-	NC_000017.11:g.7229167C>G	ExAC,TOPMed,gnomAD
rs752107513	p.Gly309Arg	missense variant	-	NC_000017.11:g.7229167C>T	ExAC,TOPMed,gnomAD
rs1379540784	p.Gly309Glu	missense variant	-	NC_000017.11:g.7229166C>T	gnomAD
rs866201678	p.Arg310His	missense variant	-	NC_000017.11:g.7229163C>T	TOPMed,gnomAD
rs376743029	p.Arg310Cys	missense variant	-	NC_000017.11:g.7229164G>A	ESP,TOPMed,gnomAD
rs766732685	p.Ile311Val	missense variant	-	NC_000017.11:g.7229161T>C	ExAC,TOPMed,gnomAD
rs1043116356	p.Ile311Met	missense variant	-	NC_000017.11:g.7229159A>C	TOPMed
COSM1189374	p.Pro313Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7229155G>A	NCI-TCGA Cosmic
rs758806996	p.Met316Ile	missense variant	-	NC_000017.11:g.7229144C>T	ExAC,gnomAD
rs983418682	p.Met316Val	missense variant	-	NC_000017.11:g.7229146T>C	TOPMed
rs373923131	p.Leu317Val	missense variant	-	NC_000017.11:g.7229143G>C	ESP,ExAC,gnomAD
rs369818238	p.Met323Leu	missense variant	-	NC_000017.11:g.7229036T>A	ESP,ExAC,TOPMed,gnomAD
rs768146653	p.Asn324Lys	missense variant	-	NC_000017.11:g.7229031G>T	ExAC,gnomAD
rs1423410875	p.Phe325Val	missense variant	-	NC_000017.11:g.7229030A>C	TOPMed
NCI-TCGA novel	p.Glu326Gln	missense variant	-	NC_000017.11:g.7229027C>G	NCI-TCGA
rs746563345	p.Asn327Thr	missense variant	-	NC_000017.11:g.7229023T>G	ExAC,TOPMed,gnomAD
COSM269067	p.Met328Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7229020A>G	NCI-TCGA Cosmic
rs1255987739	p.Met328Val	missense variant	-	NC_000017.11:g.7229021T>C	gnomAD
rs1025803726	p.Ser329Asn	missense variant	-	NC_000017.11:g.7229017C>T	TOPMed
rs1420455300	p.Asn330Ser	missense variant	-	NC_000017.11:g.7229014T>C	TOPMed
rs772684304	p.Asp331Asn	missense variant	-	NC_000017.11:g.7229012C>T	ExAC,gnomAD
rs377201716	p.Arg335Gly	missense variant	-	NC_000017.11:g.7229000G>C	ESP,ExAC,TOPMed,gnomAD
rs377201716	p.Arg335Trp	missense variant	-	NC_000017.11:g.7229000G>A	ESP,ExAC,TOPMed,gnomAD
rs368506835	p.Arg335Gln	missense variant	-	NC_000017.11:g.7228999C>T	ESP,ExAC,TOPMed,gnomAD
rs572648827	p.Asp339Asn	missense variant	-	NC_000017.11:g.7228988C>T	ExAC,TOPMed,gnomAD
rs148354072	p.Ile340Val	missense variant	-	NC_000017.11:g.7228985T>C	ESP,ExAC,TOPMed,gnomAD
rs148354072	p.Ile340Phe	missense variant	-	NC_000017.11:g.7228985T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val341Ala	missense variant	-	NC_000017.11:g.7228981A>G	NCI-TCGA
rs1476176986	p.His342Arg	missense variant	-	NC_000017.11:g.7228978T>C	gnomAD
rs866399492	p.Pro346Leu	missense variant	-	NC_000017.11:g.7228042G>A	gnomAD
rs760443700	p.Ile347Leu	missense variant	-	NC_000017.11:g.7228040T>G	ExAC,TOPMed,gnomAD
rs760443700	p.Ile347Val	missense variant	-	NC_000017.11:g.7228040T>C	ExAC,TOPMed,gnomAD
rs1335475116	p.Val351Met	missense variant	-	NC_000017.11:g.7228028C>T	gnomAD
rs1407729554	p.Ala352Val	missense variant	-	NC_000017.11:g.7228024G>A	gnomAD
rs1469955665	p.Ala352Thr	missense variant	-	NC_000017.11:g.7228025C>T	gnomAD
rs767229371	p.Cys354Tyr	missense variant	-	NC_000017.11:g.7228018C>T	ExAC,gnomAD
rs547857082	p.Trp355Cys	missense variant	-	NC_000017.11:g.7228014C>G	1000Genomes,TOPMed,gnomAD
rs547857082	p.Trp355Cys	missense variant	-	NC_000017.11:g.7228014C>A	1000Genomes,TOPMed,gnomAD
rs145138687	p.Asp356Asn	missense variant	-	NC_000017.11:g.7228013C>T	ESP,ExAC,TOPMed,gnomAD
rs1178821874	p.Asp356Val	missense variant	-	NC_000017.11:g.7228012T>A	gnomAD
rs1184490581	p.Pro359Leu	missense variant	-	NC_000017.11:g.7228003G>A	gnomAD
COSM4069210	p.Pro359His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7228003G>T	NCI-TCGA Cosmic
rs143084690	p.Pro359Ser	missense variant	-	NC_000017.11:g.7228004G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1261409013	p.Gln360Arg	missense variant	-	NC_000017.11:g.7228000T>C	gnomAD
rs771612069	p.Gln360Glu	missense variant	-	NC_000017.11:g.7228001G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln360His	missense variant	-	NC_000017.11:g.7227999C>A	NCI-TCGA
rs749743656	p.Ala361Gly	missense variant	-	NC_000017.11:g.7227997G>C	ExAC,gnomAD
rs773689180	p.Tyr362Phe	missense variant	-	NC_000017.11:g.7227994T>A	ExAC,TOPMed,gnomAD
rs1323589742	p.Thr364Ile	missense variant	-	NC_000017.11:g.7227988G>A	TOPMed
rs376020506	p.Pro366Leu	missense variant	-	NC_000017.11:g.7227982G>A	ESP,TOPMed
rs145282702	p.Arg367Gly	missense variant	-	NC_000017.11:g.7227980G>C	ESP,ExAC,TOPMed,gnomAD
COSM4909640	p.Arg367Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227979C>A	NCI-TCGA Cosmic
rs781418768	p.Arg367Gln	missense variant	-	NC_000017.11:g.7227979C>T	ExAC,TOPMed,gnomAD
rs145282702	p.Arg367Ter	stop gained	-	NC_000017.11:g.7227980G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg367GluPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.7227980G>-	NCI-TCGA
NCI-TCGA novel	p.Arg367ProPheSerTerUnk	frameshift	-	NC_000017.11:g.7227979_7227980insG	NCI-TCGA
rs369183923	p.Gln372Ter	stop gained	-	NC_000017.11:g.7227772G>A	ESP,ExAC,gnomAD
rs369183923	p.Gln372Glu	missense variant	-	NC_000017.11:g.7227772G>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gln372Lys	missense variant	-	NC_000017.11:g.7227772G>T	NCI-TCGA
rs768918195	p.Pro373Ser	missense variant	-	NC_000017.11:g.7227769G>A	ExAC,TOPMed,gnomAD
rs768918195	p.Pro373Thr	missense variant	-	NC_000017.11:g.7227769G>T	ExAC,TOPMed,gnomAD
rs199761996	p.Ile374Val	missense variant	-	NC_000017.11:g.7227766T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs780177279	p.Ile374Thr	missense variant	-	NC_000017.11:g.7227765A>G	ExAC,TOPMed,gnomAD
rs1429317949	p.Asp375Glu	missense variant	-	NC_000017.11:g.7227761G>T	gnomAD
rs758413383	p.Ala377Asp	missense variant	-	NC_000017.11:g.7227756G>T	ExAC,gnomAD
rs758413383	p.Ala377Gly	missense variant	-	NC_000017.11:g.7227756G>C	ExAC,gnomAD
rs745911254	p.Ala378Thr	missense variant	-	NC_000017.11:g.7227754C>T	ExAC,gnomAD
rs1485862708	p.Ala378Val	missense variant	-	NC_000017.11:g.7227753G>A	gnomAD
rs372266846	p.Ser381Phe	missense variant	-	NC_000017.11:g.7227744G>A	ESP,gnomAD
rs777601755	p.His382Tyr	missense variant	-	NC_000017.11:g.7227742G>A	ExAC,TOPMed,gnomAD
rs1443737725	p.Ser383Ala	missense variant	-	NC_000017.11:g.7227739A>C	TOPMed
rs1291469270	p.Ser383Tyr	missense variant	-	NC_000017.11:g.7227738G>T	gnomAD
rs767403206	p.Ala384Val	missense variant	-	NC_000017.11:g.7227735G>A	ExAC,gnomAD
rs140277298	p.Ala384Thr	missense variant	-	NC_000017.11:g.7227736C>T	ESP,ExAC,TOPMed,gnomAD
rs1360582197	p.Leu386Val	missense variant	-	NC_000017.11:g.7227730G>C	TOPMed,gnomAD
rs892848753	p.Gly388Asp	missense variant	-	NC_000017.11:g.7227723C>T	TOPMed
NCI-TCGA novel	p.Thr389LeuPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.7227720_7227721GT>-	NCI-TCGA
rs145533856	p.Pro391Ala	missense variant	-	NC_000017.11:g.7227715G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766067350	p.Tyr393Cys	missense variant	-	NC_000017.11:g.7227708T>C	ExAC,gnomAD
rs749913377	p.Gly395Asp	missense variant	-	NC_000017.11:g.7227702C>T	ExAC,TOPMed,gnomAD
rs762396088	p.Gly395Cys	missense variant	-	NC_000017.11:g.7227703C>A	ExAC,TOPMed,gnomAD
COSM1303283	p.Ser397Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227696G>A	NCI-TCGA Cosmic
rs1330117440	p.Ser398Ala	missense variant	-	NC_000017.11:g.7227694A>C	TOPMed
rs117262744	p.Met399Val	missense variant	-	NC_000017.11:g.7227691T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs575711352	p.Met399Thr	missense variant	-	NC_000017.11:g.7227690A>G	1000Genomes,ExAC,gnomAD
rs760962550	p.Ser400Asn	missense variant	-	NC_000017.11:g.7227687C>T	ExAC,TOPMed,gnomAD
rs1268703085	p.Thr403Pro	missense variant	-	NC_000017.11:g.7227679T>G	gnomAD
rs1276906750	p.Ser404Pro	missense variant	-	NC_000017.11:g.7227676A>G	TOPMed
rs1324730572	p.Ser404Phe	missense variant	-	NC_000017.11:g.7227675G>A	TOPMed
rs140804349	p.Gly405Glu	missense variant	-	NC_000017.11:g.7227672C>T	ESP,ExAC,TOPMed,gnomAD
rs140804349	p.Gly405Val	missense variant	-	NC_000017.11:g.7227672C>A	ESP,ExAC,TOPMed,gnomAD
rs769941506	p.Ser406Trp	missense variant	-	NC_000017.11:g.7227669G>C	TOPMed,gnomAD
rs769941506	p.Ser406Leu	missense variant	-	NC_000017.11:g.7227669G>A	TOPMed,gnomAD
rs943589069	p.Pro409Arg	missense variant	-	NC_000017.11:g.7227660G>C	TOPMed
NCI-TCGA novel	p.Pro409Ser	missense variant	-	NC_000017.11:g.7227661G>A	NCI-TCGA
rs1235301580	p.Cys412Arg	missense variant	-	NC_000017.11:g.7227533A>G	gnomAD
rs756683592	p.Arg415Trp	missense variant	-	NC_000017.11:g.7227524G>A	ExAC,TOPMed,gnomAD
rs149100313	p.Arg415Gln	missense variant	-	NC_000017.11:g.7227523C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs567701018	p.Gly416Asp	missense variant	-	NC_000017.11:g.7227520C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs567701018	p.Gly416Val	missense variant	-	NC_000017.11:g.7227520C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753297890	p.Gly416Ser	missense variant	-	NC_000017.11:g.7227521C>T	ExAC,gnomAD
rs753297890	p.Gly416Arg	missense variant	-	NC_000017.11:g.7227521C>G	ExAC,gnomAD
rs1221660861	p.Leu417Phe	missense variant	-	NC_000017.11:g.7227518G>A	TOPMed
rs147661282	p.Val419Ile	missense variant	-	NC_000017.11:g.7227512C>T	ESP,ExAC,TOPMed,gnomAD
rs147661282	p.Val419Phe	missense variant	-	NC_000017.11:g.7227512C>A	ESP,ExAC,TOPMed,gnomAD
rs1384492319	p.His420Arg	missense variant	-	NC_000017.11:g.7227508T>C	gnomAD
rs369536247	p.His420Tyr	missense variant	-	NC_000017.11:g.7227509G>A	ESP,ExAC,TOPMed,gnomAD
rs537514398	p.Thr421Arg	missense variant	-	NC_000017.11:g.7227505G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs537514398	p.Thr421Met	missense variant	-	NC_000017.11:g.7227505G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1425694083	p.Asp422Asn	missense variant	-	NC_000017.11:g.7227503C>T	gnomAD
rs930923701	p.Met423Val	missense variant	-	NC_000017.11:g.7227500T>C	TOPMed
rs773398000	p.Ala424Val	missense variant	-	NC_000017.11:g.7227496G>A	ExAC,gnomAD
rs1367810006	p.Ala424Thr	missense variant	-	NC_000017.11:g.7227497C>T	gnomAD
rs746934686	p.Ser425Leu	missense variant	-	NC_000017.11:g.7227493G>A	ExAC,TOPMed,gnomAD
rs746934686	p.Ser425Trp	missense variant	-	NC_000017.11:g.7227493G>C	ExAC,TOPMed,gnomAD
rs775218768	p.Val426Leu	missense variant	-	NC_000017.11:g.7227491C>A	ExAC,TOPMed,gnomAD
rs780534485	p.Ala429Thr	missense variant	-	NC_000017.11:g.7227482C>T	ExAC,gnomAD
rs778651719	p.Met430Val	missense variant	-	NC_000017.11:g.7227479T>C	ExAC,gnomAD
rs778651719	p.Met430Leu	missense variant	-	NC_000017.11:g.7227479T>A	ExAC,gnomAD
rs1293641688	p.Ser435Phe	missense variant	-	NC_000017.11:g.7227463G>A	gnomAD
rs777251889	p.Arg440Gln	missense variant	-	NC_000017.11:g.7227448C>T	ExAC,gnomAD
rs372746877	p.Arg440Trp	missense variant	-	NC_000017.11:g.7227449G>A	ESP,ExAC,TOPMed,gnomAD
rs865809670	p.Arg442Cys	missense variant	-	NC_000017.11:g.7227443G>A	-
COSM271230	p.Arg442His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227442C>T	NCI-TCGA Cosmic
rs1324693779	p.Met443Val	missense variant	-	NC_000017.11:g.7227440T>C	TOPMed,gnomAD
rs1324693779	p.Met443Leu	missense variant	-	NC_000017.11:g.7227440T>A	TOPMed,gnomAD
rs1382903421	p.Lys446Arg	missense variant	-	NC_000017.11:g.7227430T>C	TOPMed
COSM260615	p.Lys446Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227429C>A	NCI-TCGA Cosmic
rs1278159184	p.Ile447Met	missense variant	-	NC_000017.11:g.7227426G>C	gnomAD
rs1192249976	p.Pro450Leu	missense variant	-	NC_000017.11:g.7227418G>A	TOPMed,gnomAD
rs756679382	p.Asn451Asp	missense variant	-	NC_000017.11:g.7227416T>C	ExAC,gnomAD
rs1474129740	p.Ala452Val	missense variant	-	NC_000017.11:g.7227412G>A	gnomAD
rs767850050	p.Phe453Ser	missense variant	-	NC_000017.11:g.7227409A>G	ExAC,gnomAD
rs374646432	p.Ser456Leu	missense variant	-	NC_000017.11:g.7227266G>A	ESP,ExAC,TOPMed,gnomAD
rs770625484	p.Val458Met	missense variant	-	NC_000017.11:g.7227261C>T	ExAC,gnomAD
rs777339829	p.Val459Ala	missense variant	-	NC_000017.11:g.7227257A>G	ExAC,gnomAD
NCI-TCGA novel	p.Trp461Ter	stop gained	-	NC_000017.11:g.7227251C>T	NCI-TCGA
rs1170674240	p.Leu462Ile	missense variant	-	NC_000017.11:g.7227249G>T	gnomAD
rs1233198382	p.Tyr463His	missense variant	-	NC_000017.11:g.7227246A>G	gnomAD
rs202171326	p.Tyr463Cys	missense variant	-	NC_000017.11:g.7227245T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs374542663	p.His465Gln	missense variant	-	NC_000017.11:g.7227238G>T	ESP,ExAC,TOPMed,gnomAD
rs1237719627	p.Val466Met	missense variant	-	NC_000017.11:g.7227237C>T	gnomAD
NCI-TCGA novel	p.Val466Ala	missense variant	-	NC_000017.11:g.7227236A>G	NCI-TCGA
rs1270913380	p.Gly468Arg	missense variant	-	NC_000017.11:g.7227231C>G	gnomAD
rs1330458797	p.Pro470Ser	missense variant	-	NC_000017.11:g.7227225G>A	gnomAD
COSM3521602	p.Pro470Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227225G>C	NCI-TCGA Cosmic
rs1264036091	p.Pro470Leu	missense variant	-	NC_000017.11:g.7227224G>A	TOPMed
rs1201801044	p.Arg472Gln	missense variant	-	NC_000017.11:g.7227218C>T	TOPMed
rs758763721	p.Arg472Trp	missense variant	-	NC_000017.11:g.7227219G>A	ExAC,TOPMed,gnomAD
rs750681720	p.Arg473Gln	missense variant	-	NC_000017.11:g.7227215C>T	ExAC,TOPMed,gnomAD
rs1219101427	p.Arg473Trp	missense variant	-	NC_000017.11:g.7227216G>A	gnomAD
rs765499408	p.Glu474Gly	missense variant	-	NC_000017.11:g.7227212T>C	ExAC,gnomAD
rs1444007711	p.Ala475Gly	missense variant	-	NC_000017.11:g.7227209G>C	gnomAD
rs1444007711	p.Ala475Val	missense variant	-	NC_000017.11:g.7227209G>A	gnomAD
rs998549572	p.Arg476Cys	missense variant	-	NC_000017.11:g.7227207G>A	TOPMed
rs761974845	p.Arg476His	missense variant	-	NC_000017.11:g.7227206C>T	ExAC,gnomAD
rs1452737917	p.Tyr478Ter	stop gained	-	NC_000017.11:g.7227199A>C	TOPMed,gnomAD
rs753824070	p.Tyr478Cys	missense variant	-	NC_000017.11:g.7227200T>C	ExAC,gnomAD
rs1407604432	p.Ala479Val	missense variant	-	NC_000017.11:g.7227197G>A	gnomAD
rs561234234	p.Ser480Gly	missense variant	-	NC_000017.11:g.7227195T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs774196384	p.Gly481Arg	missense variant	-	NC_000017.11:g.7227192C>T	ExAC,TOPMed,gnomAD
rs762674705	p.Leu483Pro	missense variant	-	NC_000017.11:g.7227185A>G	ExAC
rs747730229	p.Gly486Cys	missense variant	-	NC_000017.11:g.7227177C>A	ExAC,gnomAD
rs1462726201	p.Arg489Ter	stop gained	-	NC_000017.11:g.7227168G>A	gnomAD
rs1235783471	p.Arg489Gln	missense variant	-	NC_000017.11:g.7227167C>T	TOPMed,gnomAD
rs780549231	p.Thr491Ile	missense variant	-	NC_000017.11:g.7227161G>A	ExAC,TOPMed,gnomAD
rs780644904	p.Val492Ile	missense variant	-	NC_000017.11:g.7227159C>T	ExAC,TOPMed,gnomAD
rs758847437	p.Lys494Glu	missense variant	-	NC_000017.11:g.7227153T>C	ExAC,gnomAD
rs1353358793	p.Ile495Val	missense variant	-	NC_000017.11:g.7227150T>C	gnomAD
rs201096093	p.Phe497Leu	missense variant	-	NC_000017.11:g.7227144A>G	1000Genomes
rs779310474	p.Gln500Ter	stop gained	-	NC_000017.11:g.7227135G>A	ExAC,gnomAD
rs757392255	p.Gln500His	missense variant	-	NC_000017.11:g.7227133C>G	ExAC,gnomAD
rs1221916447	p.Tyr502His	missense variant	-	NC_000017.11:g.7227129A>G	TOPMed
rs764074788	p.Val504Ile	missense variant	-	NC_000017.11:g.7227123C>T	ExAC
rs1320127388	p.Gly506Arg	missense variant	-	NC_000017.11:g.7227117C>T	TOPMed,gnomAD
COSM983839	p.Asp507Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227114C>T	NCI-TCGA Cosmic
rs1417664498	p.Asp507Gly	missense variant	-	NC_000017.11:g.7227113T>C	gnomAD
COSM1385934	p.Leu508Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227111G>T	NCI-TCGA Cosmic
rs1250166546	p.Ser509Asn	missense variant	-	NC_000017.11:g.7227107C>T	TOPMed
rs755649203	p.Ser509Gly	missense variant	-	NC_000017.11:g.7227108T>C	gnomAD
rs1164499679	p.Gly510Ser	missense variant	-	NC_000017.11:g.7227105C>T	gnomAD
NCI-TCGA novel	p.Gly510Cys	missense variant	-	NC_000017.11:g.7227105C>A	NCI-TCGA
rs751510485	p.Cys512Ter	stop gained	-	NC_000017.11:g.7227097A>T	ExAC,gnomAD
rs1251719162	p.Cys512Phe	missense variant	-	NC_000017.11:g.7227098C>A	gnomAD
NCI-TCGA novel	p.Cys512LeuPheSerTerUnk	frameshift	-	NC_000017.11:g.7227100_7227101insC	NCI-TCGA
rs766251283	p.Ser514Ile	missense variant	-	NC_000017.11:g.7227092C>A	ExAC,gnomAD
rs762764604	p.Tyr515His	missense variant	-	NC_000017.11:g.7227090A>G	ExAC,gnomAD
rs1317208259	p.Leu516Val	missense variant	-	NC_000017.11:g.7226637G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu516Ile	missense variant	-	NC_000017.11:g.7226637G>T	NCI-TCGA
NCI-TCGA novel	p.Leu516ProPheSerTerUnk	frameshift	-	NC_000017.11:g.7226636_7226637insTATACCCCTTAATGGGATTGCTG	NCI-TCGA
rs1283783633	p.Asn518Ser	missense variant	-	NC_000017.11:g.7226630T>C	gnomAD
rs750278603	p.Leu519Met	missense variant	-	NC_000017.11:g.7226628G>T	ExAC,TOPMed,gnomAD
rs1365176790	p.Leu521Phe	missense variant	-	NC_000017.11:g.7226622G>A	TOPMed,gnomAD
rs1443178944	p.Asn522Ser	missense variant	-	NC_000017.11:g.7226618T>C	TOPMed,gnomAD
rs1356396096	p.Asn524Ser	missense variant	-	NC_000017.11:g.7226612T>C	gnomAD
rs1465615773	p.Asp525Asn	missense variant	-	NC_000017.11:g.7226610C>T	gnomAD
rs1179132425	p.Gly529Glu	missense variant	-	NC_000017.11:g.7226597C>T	gnomAD
rs1267079739	p.Ala530Pro	missense variant	-	NC_000017.11:g.7226595C>G	gnomAD
rs1443073531	p.Gln533Ter	stop gained	-	NC_000017.11:g.7226586G>A	TOPMed,gnomAD
rs1443073531	p.Gln533Lys	missense variant	-	NC_000017.11:g.7226586G>T	TOPMed,gnomAD
rs760294769	p.Gln533Arg	missense variant	-	NC_000017.11:g.7226585T>C	ExAC,gnomAD
rs139855538	p.Asp534Tyr	missense variant	-	NC_000017.11:g.7226583C>A	ESP,ExAC,gnomAD
rs139855538	p.Asp534Asn	missense variant	-	NC_000017.11:g.7226583C>T	ESP,ExAC,gnomAD
rs72839768	p.Thr535Ile	missense variant	-	NC_000017.11:g.7226579G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs72839768	p.Thr535Asn	missense variant	-	NC_000017.11:g.7226579G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774854172	p.Ala537Thr	missense variant	-	NC_000017.11:g.7226574C>T	ExAC,TOPMed,gnomAD
rs1448139578	p.Pro538Leu	missense variant	-	NC_000017.11:g.7226570G>A	TOPMed
rs771212668	p.Pro538Ser	missense variant	-	NC_000017.11:g.7226571G>A	ExAC,gnomAD
rs777885516	p.Pro544His	missense variant	-	NC_000017.11:g.7226552G>T	ExAC,TOPMed,gnomAD
rs777885516	p.Pro544Arg	missense variant	-	NC_000017.11:g.7226552G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu548AlaPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.7226542_7226543insT	NCI-TCGA
rs186932260	p.Pro549Ser	missense variant	-	NC_000017.11:g.7226538G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs758400019	p.Pro549Leu	missense variant	-	NC_000017.11:g.7226537G>A	ExAC,gnomAD
rs750368235	p.Thr550Ala	missense variant	-	NC_000017.11:g.7226535T>C	ExAC,TOPMed,gnomAD
rs1176352987	p.Phe551Ile	missense variant	-	NC_000017.11:g.7226532A>T	gnomAD
rs765167402	p.Ser552Thr	missense variant	-	NC_000017.11:g.7226529A>T	ExAC,gnomAD
rs1243195423	p.Ser552Phe	missense variant	-	NC_000017.11:g.7226528G>A	gnomAD
rs565161291	p.Tyr553Cys	missense variant	-	NC_000017.11:g.7226525T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs565161291	p.Tyr553Phe	missense variant	-	NC_000017.11:g.7226525T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1226080062	p.Gln554Arg	missense variant	-	NC_000017.11:g.7226522T>C	TOPMed
rs1216256662	p.Tyr555His	missense variant	-	NC_000017.11:g.7226520A>G	gnomAD
rs1359860604	p.Pro556Ser	missense variant	-	NC_000017.11:g.7226517G>A	TOPMed
rs763694344	p.Pro556Leu	missense variant	-	NC_000017.11:g.7226516G>A	ExAC,gnomAD
rs1263487394	p.Ala557Val	missense variant	-	NC_000017.11:g.7226513G>A	TOPMed
rs1243735309	p.Ala557Thr	missense variant	-	NC_000017.11:g.7226514C>T	TOPMed
NCI-TCGA novel	p.Pro558Ser	missense variant	-	NC_000017.11:g.7226511G>A	NCI-TCGA
rs528578173	p.His559Gln	missense variant	-	NC_000017.11:g.7226506G>T	1000Genomes,ExAC,gnomAD
rs1486933460	p.His559Arg	missense variant	-	NC_000017.11:g.7226507T>C	TOPMed
rs759057007	p.Pro560Leu	missense variant	-	NC_000017.11:g.7226504G>A	ExAC,gnomAD
rs767139067	p.Pro560Ser	missense variant	-	NC_000017.11:g.7226505G>A	ExAC,TOPMed,gnomAD
COSM3691765	p.Ser562Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7226498C>T	NCI-TCGA Cosmic
rs774742299	p.Pro563Leu	missense variant	-	NC_000017.11:g.7226495G>A	ExAC,TOPMed,gnomAD
rs771429420	p.Pro565Leu	missense variant	-	NC_000017.11:g.7226489G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro565His	missense variant	-	NC_000017.11:g.7226489G>T	NCI-TCGA
rs1185930374	p.Pro567Leu	missense variant	-	NC_000017.11:g.7226483G>A	TOPMed
rs1244343722	p.Tyr568His	missense variant	-	NC_000017.11:g.7226481A>G	TOPMed
NCI-TCGA novel	p.Tyr568Ter	stop gained	-	NC_000017.11:g.7226479G>T	NCI-TCGA
rs773601337	p.His569Leu	missense variant	-	NC_000017.11:g.7226477T>A	ExAC,gnomAD
rs773601337	p.His569Arg	missense variant	-	NC_000017.11:g.7226477T>C	ExAC,gnomAD
rs201803378	p.His569Tyr	missense variant	-	NC_000017.11:g.7226478G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser572Pro	missense variant	-	NC_000017.11:g.7226469A>G	NCI-TCGA
rs768740247	p.Ser573Cys	missense variant	-	NC_000017.11:g.7226465G>C	ExAC,gnomAD
rs781328615	p.Ser573Ala	missense variant	-	NC_000017.11:g.7226466A>C	ExAC,gnomAD
rs747066639	p.Thr575Ile	missense variant	-	NC_000017.11:g.7226459G>A	ExAC,TOPMed,gnomAD
rs1421485874	p.Thr575Ala	missense variant	-	NC_000017.11:g.7226460T>C	gnomAD
rs973083666	p.Tyr576Cys	missense variant	-	NC_000017.11:g.7226456T>C	gnomAD
rs1489174590	p.Gly577Asp	missense variant	-	NC_000017.11:g.7226453C>T	gnomAD
rs778747234	p.Gly578Arg	missense variant	-	NC_000017.11:g.7226451C>T	ExAC,gnomAD
rs1216246026	p.Gly579Asp	missense variant	-	NC_000017.11:g.7226447C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly579AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000017.11:g.7226447C>-	NCI-TCGA
rs757188541	p.Ser580Asn	missense variant	-	NC_000017.11:g.7226444C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser583Asn	missense variant	-	NC_000017.11:g.7226435C>T	NCI-TCGA
rs1339905602	p.His585Tyr	missense variant	-	NC_000017.11:g.7226430G>A	gnomAD
rs941356299	p.His585Gln	missense variant	-	NC_000017.11:g.7226428A>C	TOPMed
rs371112172	p.Ser586Thr	missense variant	-	NC_000017.11:g.7226426C>G	ESP,TOPMed,gnomAD
rs138493643	p.Ser586Gly	missense variant	-	NC_000017.11:g.7226427T>C	ESP,ExAC,TOPMed,gnomAD
COSM271229	p.Glu587Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7226422C>A	NCI-TCGA Cosmic
rs755903914	p.Gly588Ser	missense variant	-	NC_000017.11:g.7226421C>T	ExAC,gnomAD
rs754651383	p.Arg590Gln	missense variant	-	NC_000017.11:g.7226307C>T	ExAC,TOPMed,gnomAD
rs752499366	p.Arg590Trp	missense variant	-	NC_000017.11:g.7226308G>A	ExAC,TOPMed,gnomAD
rs752499366	p.Arg590Gly	missense variant	-	NC_000017.11:g.7226308G>C	ExAC,TOPMed,gnomAD
rs754651383	p.Arg590Pro	missense variant	-	NC_000017.11:g.7226307C>G	ExAC,TOPMed,gnomAD
rs751086029	p.Ser591Asn	missense variant	-	NC_000017.11:g.7226304C>T	ExAC,gnomAD
rs1375212072	p.Ser594Thr	missense variant	-	NC_000017.11:g.7226296A>T	TOPMed
rs765905839	p.Ser594Trp	missense variant	-	NC_000017.11:g.7226295G>C	ExAC,gnomAD
rs765905839	p.Ser594Leu	missense variant	-	NC_000017.11:g.7226295G>A	ExAC,gnomAD
rs973148117	p.Arg596Trp	missense variant	-	NC_000017.11:g.7226290G>A	TOPMed,gnomAD
rs762306066	p.Arg596Gln	missense variant	-	NC_000017.11:g.7226289C>T	ExAC,TOPMed,gnomAD
rs750956419	p.Ser597Gly	missense variant	-	NC_000017.11:g.7226287T>C	ExAC,TOPMed,gnomAD
rs1263821242	p.Asp598Gly	missense variant	-	NC_000017.11:g.7226283T>C	TOPMed
rs367563224	p.Gly599Arg	missense variant	-	NC_000017.11:g.7226281C>T	ESP,ExAC,TOPMed,gnomAD
rs367563224	p.Gly599Trp	missense variant	-	NC_000017.11:g.7226281C>A	ESP,ExAC,TOPMed,gnomAD
rs776949531	p.Gly599Val	missense variant	-	NC_000017.11:g.7226280C>A	ExAC,TOPMed,gnomAD
rs776949531	p.Gly599Ala	missense variant	-	NC_000017.11:g.7226280C>G	ExAC,TOPMed,gnomAD
rs367563224	p.Gly599Arg	missense variant	-	NC_000017.11:g.7226281C>G	ESP,ExAC,TOPMed,gnomAD
rs1347645392	p.Gly600Arg	missense variant	-	NC_000017.11:g.7226278C>T	gnomAD
rs1204840227	p.Gly600Glu	missense variant	-	NC_000017.11:g.7226277C>T	TOPMed
rs370880170	p.Ala601Thr	missense variant	-	NC_000017.11:g.7226275C>T	ExAC,gnomAD
rs370880170	p.Ala601Ser	missense variant	-	NC_000017.11:g.7226275C>A	ExAC,gnomAD
rs771633429	p.Ala601GlnPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.7226275C>-	NCI-TCGA,NCI-TCGA Cosmic
rs908006315	p.Arg603His	missense variant	-	NC_000017.11:g.7226268C>T	TOPMed,gnomAD
rs775501377	p.Arg603Cys	missense variant	-	NC_000017.11:g.7226269G>A	ExAC,TOPMed
rs773310143	p.Thr604Met	missense variant	-	NC_000017.11:g.7226265G>A	ExAC,TOPMed,gnomAD
rs773310143	p.Thr604Arg	missense variant	-	NC_000017.11:g.7226265G>C	ExAC,TOPMed,gnomAD
rs1432128654	p.Thr604Ala	missense variant	-	NC_000017.11:g.7226266T>C	TOPMed
rs773310143	p.Thr604Lys	missense variant	-	NC_000017.11:g.7226265G>T	ExAC,TOPMed,gnomAD
rs781121098	p.Gly605Ala	missense variant	-	NC_000017.11:g.7226262C>G	ExAC,TOPMed,gnomAD
rs1045544304	p.Arg606Met	missense variant	-	NC_000017.11:g.7226259C>A	gnomAD
rs1414940188	p.Pro607Ser	missense variant	-	NC_000017.11:g.7226257G>A	gnomAD
rs1170581733	p.Glu608Lys	missense variant	-	NC_000017.11:g.7226254C>T	gnomAD
rs757949522	p.Arg610Gln	missense variant	-	NC_000017.11:g.7226247C>T	ExAC,TOPMed,gnomAD
rs779516848	p.Arg610Trp	missense variant	-	NC_000017.11:g.7226248G>A	ExAC,TOPMed
rs749895719	p.Ala611Val	missense variant	-	NC_000017.11:g.7226244G>A	ExAC,gnomAD
rs757743539	p.Pro612Ser	missense variant	-	NC_000017.11:g.7226242G>A	ExAC,gnomAD
rs757743539	p.Pro612Ala	missense variant	-	NC_000017.11:g.7226242G>C	ExAC,gnomAD
rs754263413	p.Pro612Leu	missense variant	-	NC_000017.11:g.7226241G>A	ExAC,gnomAD
rs760883380	p.Glu613Ter	stop gained	-	NC_000017.11:g.7226239C>A	ExAC,gnomAD
rs775801245	p.Glu613Gly	missense variant	-	NC_000017.11:g.7226238T>C	ExAC,TOPMed,gnomAD
rs775801245	p.Glu613Ala	missense variant	-	NC_000017.11:g.7226238T>G	ExAC,TOPMed,gnomAD
rs1205088679	p.Lys615Thr	missense variant	-	NC_000017.11:g.7226232T>G	TOPMed
rs759698030	p.Gly617Ser	missense variant	-	NC_000017.11:g.7226227C>T	ExAC,TOPMed,gnomAD
rs774546616	p.Gly617Asp	missense variant	-	NC_000017.11:g.7226226C>T	ExAC,TOPMed,gnomAD
rs769910353	p.Ser618Gly	missense variant	-	NC_000017.11:g.7226224T>C	ExAC,gnomAD
rs201103337	p.Ser620Asn	missense variant	-	NC_000017.11:g.7226217C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu623Gly	missense variant	-	NC_000017.11:g.7226208T>C	NCI-TCGA
rs370621371	p.Pro624Ser	missense variant	-	NC_000017.11:g.7226206G>A	ESP,ExAC,TOPMed,gnomAD
rs746734137	p.Ser626Asn	missense variant	-	NC_000017.11:g.7226199C>T	ExAC,TOPMed,gnomAD
rs746734137	p.Ser626Ile	missense variant	-	NC_000017.11:g.7226199C>A	ExAC,TOPMed,gnomAD
rs902612186	p.Arg627Ter	stop gained	-	NC_000017.11:g.7226197G>A	TOPMed,gnomAD
rs779788537	p.Arg627Gln	missense variant	-	NC_000017.11:g.7226196C>T	ExAC,TOPMed,gnomAD
rs1388060747	p.Gly628Val	missense variant	-	NC_000017.11:g.7226193C>A	TOPMed
rs1009152288	p.Gly628Arg	missense variant	-	NC_000017.11:g.7226194C>G	TOPMed
rs757957085	p.Gly629Asp	missense variant	-	NC_000017.11:g.7226190C>T	ExAC,gnomAD
rs1160735254	p.Ser630Arg	missense variant	-	NC_000017.11:g.7226186G>C	gnomAD
NCI-TCGA novel	p.Ser630GlnPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.7226189_7226190insC	NCI-TCGA
rs745436466	p.Leu631Val	missense variant	-	NC_000017.11:g.7226185G>C	ExAC,gnomAD
rs200445258	p.Arg632Trp	missense variant	-	NC_000017.11:g.7226182G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145230174	p.Arg632Gln	missense variant	-	NC_000017.11:g.7226181C>T	ESP,ExAC,TOPMed,gnomAD
rs145230174	p.Arg632Leu	missense variant	-	NC_000017.11:g.7226181C>A	ESP,ExAC,TOPMed,gnomAD
rs141128284	p.Arg633Gln	missense variant	-	NC_000017.11:g.7226178C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199718103	p.Arg633Trp	missense variant	-	NC_000017.11:g.7226179G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs536462230	p.Gly634Cys	missense variant	-	NC_000017.11:g.7226176C>A	1000Genomes,ExAC,gnomAD
rs1288561691	p.Gly635Glu	missense variant	-	NC_000017.11:g.7226172C>T	gnomAD
rs767826461	p.Glu636Ala	missense variant	-	NC_000017.11:g.7226169T>G	ExAC,gnomAD
rs922670659	p.Glu636Lys	missense variant	-	NC_000017.11:g.7226170C>T	TOPMed
rs766570140	p.Ser638Asn	missense variant	-	NC_000017.11:g.7226163C>T	ExAC,gnomAD
rs766570140	p.Ser638Ile	missense variant	-	NC_000017.11:g.7226163C>A	ExAC,gnomAD
rs1474352766	p.Ser641Thr	missense variant	-	NC_000017.11:g.7226154C>G	gnomAD
rs1380661512	p.Ser641Gly	missense variant	-	NC_000017.11:g.7226155T>C	gnomAD
rs1447175372	p.Asp642Asn	missense variant	-	NC_000017.11:g.7226152C>T	TOPMed,gnomAD
rs1447175372	p.Asp642His	missense variant	-	NC_000017.11:g.7226152C>G	TOPMed,gnomAD
rs1417567348	p.Pro645Leu	missense variant	-	NC_000017.11:g.7226142G>A	gnomAD
rs1296096211	p.Pro645Ser	missense variant	-	NC_000017.11:g.7226143G>A	TOPMed
rs1165698134	p.Pro646Ser	missense variant	-	NC_000017.11:g.7226140G>A	TOPMed,gnomAD
rs1407174859	p.Pro646Arg	missense variant	-	NC_000017.11:g.7226139G>C	TOPMed,gnomAD
rs768438976	p.Pro647Ser	missense variant	-	NC_000017.11:g.7226137G>A	ExAC
rs374515938	p.Ser648Phe	missense variant	-	NC_000017.11:g.7226133G>A	ESP,ExAC,TOPMed,gnomAD
rs879603780	p.Ser651Leu	missense variant	-	NC_000017.11:g.7226124G>A	TOPMed
rs775126495	p.Ser651Ala	missense variant	-	NC_000017.11:g.7226125A>C	ExAC,gnomAD
rs143663171	p.Gly653Arg	missense variant	-	NC_000017.11:g.7226119C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs143663171	p.Gly653Trp	missense variant	-	NC_000017.11:g.7226119C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs148194418	p.Gly654Asp	missense variant	-	NC_000017.11:g.7226115C>T	ESP,ExAC,gnomAD
rs369806603	p.Ala655Thr	missense variant	-	NC_000017.11:g.7226113C>T	ESP,ExAC,TOPMed,gnomAD
rs139788506	p.Pro656Ser	missense variant	-	NC_000017.11:g.7226110G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372681115	p.Leu658Phe	missense variant	-	NC_000017.11:g.7226104G>A	ESP,ExAC,TOPMed,gnomAD
rs372681115	p.Leu658Ile	missense variant	-	NC_000017.11:g.7226104G>T	ESP,ExAC,TOPMed,gnomAD
rs369108754	p.Arg659Gln	missense variant	-	NC_000017.11:g.7226100C>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Arg659Ter	stop gained	-	NC_000017.11:g.7226101G>A	NCI-TCGA
rs778381739	p.Ala660Val	missense variant	-	NC_000017.11:g.7226097G>A	ExAC
rs143063937	p.His661Gln	missense variant	-	NC_000017.11:g.7226093G>C	ESP,ExAC,TOPMed,gnomAD
rs200412231	p.His661Tyr	missense variant	-	NC_000017.11:g.7226095G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.His661Asn	missense variant	-	NC_000017.11:g.7226095G>T	NCI-TCGA
rs1403800228	p.Gly663Val	missense variant	-	NC_000017.11:g.7226088C>A	TOPMed
rs1339542016	p.His665Tyr	missense variant	-	NC_000017.11:g.7226083G>A	gnomAD
rs1438850368	p.Pro666Leu	missense variant	-	NC_000017.11:g.7226079G>A	gnomAD
rs1024042756	p.Tyr667His	missense variant	-	NC_000017.11:g.7226077A>G	TOPMed,gnomAD
rs751843492	p.Pro669Leu	missense variant	-	NC_000017.11:g.7226070G>A	ExAC,TOPMed,gnomAD
rs267605047	p.Pro670His	missense variant	-	NC_000017.11:g.7226067G>T	ESP,ExAC,TOPMed,gnomAD
rs267605047	p.Pro670Leu	missense variant	-	NC_000017.11:g.7226067G>A	ESP,ExAC,TOPMed,gnomAD
rs750439416	p.Pro671Thr	missense variant	-	NC_000017.11:g.7226065G>T	ExAC,gnomAD
rs750439416	p.Pro671Ala	missense variant	-	NC_000017.11:g.7226065G>C	ExAC,gnomAD
rs764142182	p.Gly672Asp	missense variant	-	NC_000017.11:g.7226061C>T	ExAC,gnomAD
rs764142182	p.Gly672Val	missense variant	-	NC_000017.11:g.7226061C>A	ExAC,gnomAD
rs1489247757	p.Met673Ile	missense variant	-	NC_000017.11:g.7226057C>T	gnomAD
rs149062755	p.Met673Val	missense variant	-	NC_000017.11:g.7226059T>C	ESP,ExAC,TOPMed
rs759271815	p.Tyr677Cys	missense variant	-	NC_000017.11:g.7226046T>C	ExAC,gnomAD
rs771770725	p.Tyr677Asn	missense variant	-	NC_000017.11:g.7226047A>T	ExAC,TOPMed,gnomAD
rs147610025	p.Pro679Ser	missense variant	-	NC_000017.11:g.7226041G>A	ESP,ExAC,TOPMed,gnomAD
rs1265703676	p.Met680Val	missense variant	-	NC_000017.11:g.7226038T>C	TOPMed
rs1259955103	p.Met681Thr	missense variant	-	NC_000017.11:g.7226034A>G	TOPMed,gnomAD
rs1259955103	p.Met681Arg	missense variant	-	NC_000017.11:g.7226034A>C	TOPMed,gnomAD
rs770537300	p.Val683Ala	missense variant	-	NC_000017.11:g.7226028A>G	ExAC,gnomAD
rs748841149	p.Met684Leu	missense variant	-	NC_000017.11:g.7226026T>G	ExAC,gnomAD
rs1301705137	p.Pro686Ser	missense variant	-	NC_000017.11:g.7226020G>A	gnomAD
rs375466737	p.Pro687Gln	missense variant	-	NC_000017.11:g.7226016G>T	ESP,ExAC,gnomAD
rs141433972	p.Pro688Leu	missense variant	-	NC_000017.11:g.7226013G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370334570	p.Pro688Ser	missense variant	-	NC_000017.11:g.7226014G>A	ESP,ExAC,TOPMed,gnomAD
rs147861581	p.Pro690Ser	missense variant	-	NC_000017.11:g.7226008G>A	ESP,ExAC,TOPMed,gnomAD
rs1465540012	p.Pro690Leu	missense variant	-	NC_000017.11:g.7226007G>A	gnomAD
rs1431749829	p.Pro693Leu	missense variant	-	NC_000017.11:g.7225998G>A	gnomAD
rs758673316	p.Pro694Leu	missense variant	-	NC_000017.11:g.7225995G>A	ExAC,gnomAD
rs750574732	p.Val696Met	missense variant	-	NC_000017.11:g.7225990C>T	ExAC
rs144529320	p.Gln697His	missense variant	-	NC_000017.11:g.7225985C>G	ESP,gnomAD
rs922618549	p.Pro698Leu	missense variant	-	NC_000017.11:g.7225983G>A	gnomAD
rs752593583	p.Pro699Leu	missense variant	-	NC_000017.11:g.7225980G>A	ExAC,TOPMed,gnomAD
rs757298992	p.Pro699Ser	missense variant	-	NC_000017.11:g.7225981G>A	ExAC,gnomAD
rs201947862	p.Asp706Glu	missense variant	-	NC_000017.11:g.7225958G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1289406698	p.Val710Ala	missense variant	-	NC_000017.11:g.7225947A>G	TOPMed
rs769201038	p.Val710Leu	missense variant	-	NC_000017.11:g.7225948C>G	ExAC,gnomAD
rs777033867	p.Pro712Leu	missense variant	-	NC_000017.11:g.7225941G>A	ExAC,gnomAD
rs769256723	p.Thr715Pro	missense variant	-	NC_000017.11:g.7225933T>G	ExAC,gnomAD
rs747427559	p.Ser717Arg	missense variant	-	NC_000017.11:g.7225925G>T	ExAC,TOPMed,gnomAD
rs202054703	p.Arg718His	missense variant	-	NC_000017.11:g.7225923C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs780552994	p.Arg718Cys	missense variant	-	NC_000017.11:g.7225924G>A	ExAC,TOPMed,gnomAD
rs1419916400	p.Gln719Arg	missense variant	-	NC_000017.11:g.7225920T>C	gnomAD
rs1176245582	p.Ser720Gly	missense variant	-	NC_000017.11:g.7225918T>C	gnomAD
rs1440648573	p.Phe721Leu	missense variant	-	NC_000017.11:g.7225915A>G	TOPMed
rs1206306266	p.Phe721Leu	missense variant	-	NC_000017.11:g.7225913G>C	TOPMed
rs1346093042	p.Met723Val	missense variant	-	NC_000017.11:g.7225909T>C	TOPMed,gnomAD
rs753921561	p.Met725Leu	missense variant	-	NC_000017.11:g.7225903T>A	ExAC,TOPMed,gnomAD
rs767490193	p.Met725Thr	missense variant	-	NC_000017.11:g.7225902A>G	ExAC,gnomAD
rs753921561	p.Met725Val	missense variant	-	NC_000017.11:g.7225903T>C	ExAC,TOPMed,gnomAD
rs1482175486	p.Met725Ile	missense variant	-	NC_000017.11:g.7225901C>T	TOPMed,gnomAD
rs754891875	p.Gly726Ser	missense variant	-	NC_000017.11:g.7225900C>T	ExAC,gnomAD
rs766166785	p.Ser729Arg	missense variant	-	NC_000017.11:g.7225891T>G	ExAC,gnomAD
rs373299689	p.Ser729Arg	missense variant	-	NC_000017.11:g.7225889G>C	ExAC,TOPMed,gnomAD
COSM983838	p.Ser729Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7225891T>A	NCI-TCGA Cosmic
rs1400645935	p.Glu730Lys	missense variant	-	NC_000017.11:g.7225888C>T	TOPMed
rs201114631	p.Val735Ile	missense variant	-	NC_000017.11:g.7225873C>T	1000Genomes,ExAC,gnomAD
rs1412139842	p.Met736Thr	missense variant	-	NC_000017.11:g.7225869A>G	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001430	Adenoma	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0021841	Intestinal Neoplasms	group	BEFREE
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0024121	Lung Neoplasms	group	LHGDN
C0025149	Medulloblastoma	disease	BEFREE
C0026946	Mycoses	group	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0333983	Hyperplastic Polyp	disease	BEFREE
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0677932	Progressive Neoplastic Disease	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1837341	Transposition of the Great Arteries, Dextro-Looped 1	disease	MGD
C3257801	Dextrotransposition of aorta	disease	MGD
C3536741	Discordant ventriculoarterial connection	disease	MGD
C3539781	Progressive cGVHD	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005109	frizzled binding	IPI
GO:0005109	frizzled binding	IBA
GO:0005109	frizzled binding	TAS
GO:0005515	protein binding	IPI
GO:0019901	protein kinase binding	IEA
GO:0019904	protein domain specific binding	IEA
GO:0030674	protein binding, bridging	IEA
GO:0042802	identical protein binding	IPI
GO:0043621	protein self-association	IEA
GO:0048365	Rac GTPase binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001843	neural tube closure	ISS
GO:0001934	positive regulation of protein phosphorylation	IMP
GO:0003151	outflow tract morphogenesis	ISS
GO:0006366	transcription by RNA polymerase II	IDA
GO:0007379	segment specification	ISS
GO:0007507	heart development	ISS
GO:0022007	convergent extension involved in neural plate elongation	IEA
GO:0034613	cellular protein localization	IEA
GO:0035329	hippo signaling	TAS
GO:0035567	non-canonical Wnt signaling pathway	IMP
GO:0035567	non-canonical Wnt signaling pathway	TAS
GO:0043507	positive regulation of JUN kinase activity	IDA
GO:0043507	positive regulation of JUN kinase activity	IMP
GO:0043547	positive regulation of GTPase activity	IEA
GO:0044340	canonical Wnt signaling pathway involved in regulation of cell proliferation	IDA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA
GO:0060070	canonical Wnt signaling pathway	IDA
GO:0060070	canonical Wnt signaling pathway	IBA
GO:0060070	canonical Wnt signaling pathway	TAS
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IDA
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0061024	membrane organization	TAS
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA
GO:0090090	negative regulation of canonical Wnt signaling pathway	TAS
GO:0090103	cochlea morphogenesis	IEA
GO:0090179	planar cell polarity pathway involved in neural tube closure	IBA
GO:0150012	positive regulation of neuron projection arborization	ISS
GO:1904886	beta-catenin destruction complex disassembly	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	ISS
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	IBA
GO:0005829	cytosol	TAS
GO:0016235	aggresome	IDA
GO:0016328	lateral plasma membrane	IEA
GO:0016604	nuclear body	IDA
GO:0031410	cytoplasmic vesicle	IDA
GO:0045177	apical part of cell	IEA
GO:0045334	clathrin-coated endocytic vesicle	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-194315	Signaling by Rho GTPases	TAS
R-HSA-195258	RHO GTPase Effectors	TAS
R-HSA-195721	Signaling by WNT	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-199991	Membrane Trafficking	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	IEA
R-HSA-201688	WNT mediated activation of DVL	TAS
R-HSA-2028269	Signaling by Hippo	TAS
R-HSA-3858494	Beta-catenin independent WNT signaling	TAS
R-HSA-3858494	Beta-catenin independent WNT signaling	IEA
R-HSA-4086400	PCP/CE pathway	TAS
R-HSA-4086400	PCP/CE pathway	IEA
R-HSA-4608870	Asymmetric localization of PCP proteins	TAS
R-HSA-4641258	Degradation of DVL	TAS
R-HSA-4641262	Disassembly of the destruction complex and recruitment of AXIN to the membrane	TAS
R-HSA-4641262	Disassembly of the destruction complex and recruitment of AXIN to the membrane	IEA
R-HSA-5099900	WNT5A-dependent internalization of FZD4	TAS
R-HSA-5368598	Negative regulation of TCF-dependent signaling by DVL-interacting proteins	IEA
R-HSA-5653656	Vesicle-mediated transport	TAS
R-HSA-5663220	RHO GTPases Activate Formins	TAS
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis	TAS
R-HSA-8856828	Clathrin-mediated endocytosis	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
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 bisphenol F] results in increased expression of DVL2 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	boric acid inhibits the reaction [[Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS protein] results in decreased expression of DVL2 mRNA]	28285642
D015056	1-Methyl-3-isobutylxanthine	[Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS protein] results in decreased expression of DVL2 mRNA	28285642
D015056	1-Methyl-3-isobutylxanthine	sodium pentaborate inhibits the reaction [[Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS protein] results in decreased expression of DVL2 mRNA]	28285642
C048460	3-deazaneplanocin	[3-deazaneplanocin co-treated with trichostatin A] affects the expression of DVL2 protein	18538736
C493177	4-(4-(2,3-dihydrobenzo(1,4)dioxin-6-yl)-5-pyridin-2-yl-1H-imidazol-2-yl)benzamide	4-(4-(2,3-dihydrobenzo(1,4)dioxin-6-yl)-5-pyridin-2-yl-1H-imidazol-2-yl)benzamide results in decreased phosphorylation of DVL2 protein	21602191
C496492	abrine	abrine results in increased expression of DVL2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of DVL2 mRNA	25064622
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of DVL2 gene	27153756
D000638	Amiodarone	Amiodarone affects the expression of DVL2 mRNA	25064622
D001285	Atropine	Atropine inhibits the reaction [Parathion results in increased expression of DVL2 protein]	17390078
D001564	Benzo(a)pyrene	AHR protein inhibits the reaction [Benzo(a)pyrene results in decreased expression of DVL2 mRNA]	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of DVL2 mRNA	15034205
C044887	beta-methylcholine	beta-methylcholine affects the expression of DVL2 mRNA	21179406
C006780	bisphenol A	bisphenol A results in increased methylation of DVL2 intron	30906313
C006780	bisphenol A	bisphenol A results in increased expression of DVL2 mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased methylation of DVL2 gene	28505145
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of DVL2 mRNA	28628672
C032688	boric acid	boric acid inhibits the reaction [[Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS protein] results in decreased expression of DVL2 mRNA]	28285642
D002746	Chlorpromazine	Chlorpromazine affects the expression of DVL2 mRNA	25064622
D004390	Chlorpyrifos	Chlorpyrifos affects the expression of DVL2 mRNA	18502319
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of DVL2 gene	20938992
D016572	Cyclosporine	Cyclosporine affects the expression of DVL2 mRNA	25064622
D000077209	Decitabine	Decitabine affects the expression of DVL2 mRNA	27915011
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of DVL2 mRNA	28628672
D003907	Dexamethasone	boric acid inhibits the reaction [[Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS protein] results in decreased expression of DVL2 mRNA]	28285642
D003907	Dexamethasone	[Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS protein] results in decreased expression of DVL2 mRNA	28285642
D003907	Dexamethasone	sodium pentaborate inhibits the reaction [[Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS protein] results in decreased expression of DVL2 mRNA]	28285642
D003976	Diazinon	Diazinon affects the expression of DVL2 mRNA	18502319
D004041	Dietary Fats	Dietary Fats results in increased expression of DVL2 mRNA	25016146
D004281	Docosahexaenoic Acids	Docosahexaenoic Acids results in decreased expression of DVL2 mRNA	16623957
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of DVL2 mRNA	25064622
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of DVL2 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of DVL2 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of DVL2 mRNA	17942748
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of DVL2 gene	20938992
C007845	gingerol	gingerol results in increased expression of DVL2 mRNA	26498061
C492448	ICG 001	ICG 001 results in increased expression of DVL2 mRNA	26191083
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of DVL2 mRNA	28628672
C544151	jinfukang	jinfukang results in increased expression of DVL2 mRNA	27392435
D018021	Lithium Chloride	Lithium Chloride inhibits the reaction [Paraquat results in decreased expression of DVL2 protein]	30171970
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of DVL2 gene	20938992
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of DVL2 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of DVL2 mRNA	25620056
D009534	Niclosamide	Niclosamide results in decreased expression of DVL2 protein	19772353; 21531761;
D009538	Nicotine	Nicotine results in decreased expression of DVL2 mRNA	16949557
D010269	Paraquat	Paraquat affects the expression of DVL2 mRNA	25064622
D010269	Paraquat	WNT1 protein inhibits the reaction [Paraquat results in decreased expression of DVL2 mRNA]	30171970
D010269	Paraquat	WNT1 protein inhibits the reaction [Paraquat results in decreased expression of DVL2 protein]	30171970
D010269	Paraquat	Lithium Chloride inhibits the reaction [Paraquat results in decreased expression of DVL2 protein]	30171970
D010269	Paraquat	Paraquat results in decreased expression of DVL2 mRNA	27788593; 30171970;
D010269	Paraquat	Paraquat results in decreased expression of DVL2 protein	30171970
D010269	Paraquat	Paraquat results in decreased expression of DVL2 mRNA	26887261
D010278	Parathion	Atropine inhibits the reaction [Parathion results in increased expression of DVL2 protein]	17390078
D010278	Parathion	Parathion results in increased expression of DVL2 protein	17390078
D052638	Particulate Matter	Particulate Matter results in increased expression of DVL2 mRNA	28412507
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of DVL2 mRNA	19710929
C108953	platycodin D	platycodin D results in increased expression of DVL2 mRNA	21798269
C108953	platycodin D	platycodin D results in increased expression of DVL2 protein	21798269
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of DVL2 mRNA	21427059
C538809	sodium pentaborate	sodium pentaborate inhibits the reaction [[Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS protein] results in decreased expression of DVL2 mRNA]	28285642
D013629	Tamoxifen	Tamoxifen affects the expression of DVL2 mRNA	17555576
D013749	Tetrachlorodibenzodioxin	AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of DVL2 mRNA]	15034205
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DVL2 mRNA	21570461; 24680724;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of DVL2 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of DVL2 mRNA	15034205
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to and results in increased activity of AHR protein] which results in increased expression of DVL2 protein modified form	21602191
D013752	Tetracycline	Tetracycline affects the expression of DVL2 mRNA	25064622
D013853	Thioacetamide	Thioacetamide affects the expression of DVL2 mRNA	25064622
D013893	Thiram	Thiram results in decreased expression of DVL2 mRNA	20530235
D014118	Toxins, Biological	Toxins, Biological affects the expression of DVL2 mRNA	19682533
C012589	trichostatin A	[3-deazaneplanocin co-treated with trichostatin A] affects the expression of DVL2 protein	18538736
D014635	Valproic Acid	Valproic Acid affects the expression of DVL2 mRNA	25064622
D014635	Valproic Acid	Valproic Acid results in increased expression of DVL2 mRNA	21427059
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of DVL2 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-1003	Cell membrane
KW-0963	Cytoplasm
KW-0968	Cytoplasmic vesicle
KW-0217	Developmental protein
KW-0472	Membrane
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR000591	DEP_dom
IPR024580	Dishevelled_C-dom
IPR008339	Dishevelled_fam
IPR003351	Dishevelled_protein_dom
IPR001158	DIX
IPR038207	DIX_dom_sf
IPR015506	Dsh/Dvl-rel
IPR008341	DVL2
IPR001478	PDZ
IPR036034	PDZ_sf
IPR029071	Ubiquitin-like_domsf
IPR036388	WH-like_DNA-bd_sf
IPR036390	WH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS50186	DEP
PS50841	DIX
PS50106	PDZ

Pfam

Pfam ID	Pfam Term
PF00610	DEP
PF02377	Dishevelled
PF00778	DIX
PF12316	Dsh_C
PF00595	PDZ

Gene: DVL2

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

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

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