CleftGeneDB-Search

Gene: NUAK2

Basic information

Tag	Content
Uniprot ID	Q9H093
Entrez ID	81788
Genbank protein ID	AAH17306.1; CAB66825.1; BAC11234.1;
Genbank nucleotide ID	NM_030952.2
Ensembl protein ID	ENSP00000356125
Ensembl nucleotide ID	ENSG00000163545
Gene name	NUAK family SNF1-like kinase 2
Gene symbol	NUAK2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Stress-activated kinase involved in tolerance to glucose starvation. Induces cell-cell detachment by increasing F-actin conversion to G-actin. Expression is induced by CD95 or TNF-alpha, via NF-kappa-B. Protects cells from CD95-mediated apoptosis and is required for the increased motility and invasiveness of CD95-activated tumor cells. Able to phosphorylate 'Ser-464' of LATS1.
Sequence	MESLVFARRS GPTPSAAELA RPLAEGLIKS PKPLMKKQAV KRHHHKHNLR HRYEFLETLG 60 KGTYGKVKKA RESSGRLVAI KSIRKDKIKD EQDLMHIRRE IEIMSSLNHP HIIAIHEVFE 120 NSSKIVIVME YASRGDLYDY ISERQQLSER EARHFFRQIV SAVHYCHQNR VVHRDLKLEN 180 ILLDANGNIK IADFGLSNLY HQGKFLQTFC GSPLYASPEI VNGKPYTGPE VDSWSLGVLL 240 YILVHGTMPF DGHDHKILVK QISNGAYREP PKPSDACGLI RWLLMVNPTR RATLEDVASH 300 WWVNWGYATR VGEQEAPHEG GHPGSDSARA SMADWLRRSS RPLLENGAKV CSFFKQHAPG 360 GGSTTPGLER QHSLKKSRKE NDMAQSLHSD TADDTAHRPG KSNLKLPKGI LKKKVSASAE 420 GVQEDPPELS PIPASPGQAA PLLPKKGILK KPRQRESGYY SSPEPSESGE LLDAGDVFVS 480 GDPKEQKPPQ ASGLLLHRKG ILKLNGKFSQ TALELAAPTT FGSLDELAPP RPLARASRPS 540 GAVSEDSILS SESFDQLDLP ERLPEPPLRG CVSVDNLTGL EEPPSEGPGS CLRRWRQDPL 600 GDSCFSLTDC QEVTATYRQA LRVCSKLT 628

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	NUAK2		A0A452EIF1		Capra hircus	Prediction	More>>
1:1 ortholog	NUAK2	81788	Q9H093		Homo sapiens	Prediction	More>>
1:1 ortholog	Nuak2	74137	Q8BZN4	CPO	Mus musculus	Publication	More>>
1:1 ortholog	NUAK2	457667	H2Q0Z2		Pan troglodytes	Prediction	More>>
1:1 ortholog	NUAK2		A0A287B415		Sus scrofa	Prediction	More>>
1:1 ortholog	Nuak2	289419	Q66HE5		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs368121832	p.Glu2Gln	missense variant	-	NC_000001.11:g.205321625C>G	ESP,ExAC,gnomAD
rs752648660	p.Val5Ile	missense variant	-	NC_000001.11:g.205321616C>T	ExAC,gnomAD
rs1443895459	p.Ala7Ser	missense variant	-	NC_000001.11:g.205321610C>A	gnomAD
rs765071245	p.Arg8Trp	missense variant	-	NC_000001.11:g.205321607G>A	ExAC,TOPMed,gnomAD
COSM5951298	p.Ser10Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205321600G>A	NCI-TCGA Cosmic
rs770737041	p.Gly11Ser	missense variant	-	NC_000001.11:g.205321598C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly11Arg	missense variant	-	NC_000001.11:g.205321598C>G	NCI-TCGA
rs925368027	p.Thr13Pro	missense variant	-	NC_000001.11:g.205321592T>G	TOPMed
rs573384120	p.Pro14Leu	missense variant	-	NC_000001.11:g.205321588G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs573384120	p.Pro14Arg	missense variant	-	NC_000001.11:g.205321588G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs141798870	p.Pro14Ser	missense variant	-	NC_000001.11:g.205321589G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1286339754	p.Ser15Leu	missense variant	-	NC_000001.11:g.205321585G>A	gnomAD
rs1286339754	p.Ser15Leu	missense variant	-	NC_000001.11:g.205321585G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser15Trp	missense variant	-	NC_000001.11:g.205321585G>C	NCI-TCGA
rs199874037	p.Ala16Ser	missense variant	-	NC_000001.11:g.205321583C>A	TOPMed,gnomAD
COSM6060893	p.Ala17Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205321580C>G	NCI-TCGA Cosmic
rs1431839347	p.Ala17Ser	missense variant	-	NC_000001.11:g.205321580C>A	gnomAD
rs749648290	p.Ala20Val	missense variant	-	NC_000001.11:g.205321570G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg21GlyPheSerTerUnk	frameshift	-	NC_000001.11:g.205321568G>-	NCI-TCGA
rs1232067046	p.Ala24Val	missense variant	-	NC_000001.11:g.205321558G>A	gnomAD
rs1452777286	p.Glu25Lys	missense variant	-	NC_000001.11:g.205321556C>T	TOPMed
COSM3482206	p.Gly26Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205321553C>T	NCI-TCGA Cosmic
rs553959662	p.Gly26Glu	missense variant	-	NC_000001.11:g.205321552C>T	1000Genomes,ExAC
rs1322860239	p.Ile28Asn	missense variant	-	NC_000001.11:g.205321546A>T	gnomAD
rs781248233	p.Ile28Phe	missense variant	-	NC_000001.11:g.205321547T>A	ExAC,TOPMed,gnomAD
rs1292730514	p.Pro31Ala	missense variant	-	NC_000001.11:g.205321538G>C	gnomAD
rs974258050	p.Lys32Arg	missense variant	-	NC_000001.11:g.205321534T>C	TOPMed,gnomAD
rs369894001	p.Leu34Val	missense variant	-	NC_000001.11:g.205321529G>C	ESP,TOPMed
rs1015340986	p.Met35Thr	missense variant	-	NC_000001.11:g.205321525A>G	TOPMed
rs760713380	p.Lys37Asn	missense variant	-	NC_000001.11:g.205321518C>A	ExAC,gnomAD
COSM3789384	p.Ala39Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205321514C>A	NCI-TCGA Cosmic
rs753593899	p.Val40Met	missense variant	-	NC_000001.11:g.205321511C>T	ExAC,gnomAD
rs760370614	p.His43Tyr	missense variant	-	NC_000001.11:g.205321502G>A	ExAC,TOPMed,gnomAD
rs760370614	p.His43Asn	missense variant	-	NC_000001.11:g.205321502G>T	ExAC,TOPMed,gnomAD
rs145871344	p.His44Asp	missense variant	-	NC_000001.11:g.205321499G>C	ESP,ExAC,TOPMed,gnomAD
rs906845965	p.His44Arg	missense variant	-	NC_000001.11:g.205321498T>C	TOPMed,gnomAD
rs145871344	p.His44Tyr	missense variant	-	NC_000001.11:g.205321499G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His44Asn	missense variant	-	NC_000001.11:g.205321499G>T	NCI-TCGA
COSM1134804	p.His45Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205321496G>A	NCI-TCGA Cosmic
rs1473373982	p.His45Arg	missense variant	-	NC_000001.11:g.205321495T>C	gnomAD
rs767121052	p.Lys46Gln	missense variant	-	NC_000001.11:g.205321493T>G	ExAC,gnomAD
rs1488556621	p.Leu49Arg	missense variant	-	NC_000001.11:g.205321483A>C	gnomAD
rs1273001242	p.Arg50Trp	missense variant	-	NC_000001.11:g.205321481G>A	gnomAD
rs1273001242	p.Arg50Trp	missense variant	-	NC_000001.11:g.205321481G>A	NCI-TCGA
rs774882765	p.His51Asn	missense variant	-	NC_000001.11:g.205321478G>T	ExAC,gnomAD
rs1208116286	p.His51Gln	missense variant	-	NC_000001.11:g.205321476G>T	TOPMed
rs769068244	p.Arg52His	missense variant	-	NC_000001.11:g.205321474C>T	ExAC,gnomAD
rs1229199115	p.Arg52Ser	missense variant	-	NC_000001.11:g.205321475G>T	gnomAD
rs749850850	p.Glu54Ter	stop gained	-	NC_000001.11:g.205321469C>A	ExAC,gnomAD
rs761609957	p.Phe55Val	missense variant	-	NC_000001.11:g.205321466A>C	TOPMed,gnomAD
rs761609957	p.Phe55Ile	missense variant	-	NC_000001.11:g.205321466A>T	TOPMed,gnomAD
rs1268862709	p.Thr58Ile	missense variant	-	NC_000001.11:g.205321456G>A	gnomAD
rs904918812	p.Thr63Ile	missense variant	-	NC_000001.11:g.205321441G>A	-
rs904918812	p.Thr63Ile	missense variant	-	NC_000001.11:g.205321441G>A	NCI-TCGA Cosmic
rs1248304468	p.Tyr64Cys	missense variant	-	NC_000001.11:g.205321438T>C	TOPMed
rs770212647	p.Gly65Arg	missense variant	-	NC_000001.11:g.205321436C>T	ExAC,gnomAD
rs1182213267	p.Val67Gly	missense variant	-	NC_000001.11:g.205321429A>C	TOPMed
rs746081046	p.Lys69Arg	missense variant	-	NC_000001.11:g.205321423T>C	ExAC,TOPMed,gnomAD
rs1441716937	p.Lys69Asn	missense variant	-	NC_000001.11:g.205321422C>G	TOPMed
rs1287147817	p.Ala70Val	missense variant	-	NC_000001.11:g.205321420G>A	gnomAD
rs200294284	p.Arg71Trp	missense variant	-	NC_000001.11:g.205321418G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu72Asp	missense variant	-	NC_000001.11:g.205321413C>G	NCI-TCGA
rs1426931246	p.Arg76Cys	missense variant	-	NC_000001.11:g.205321403G>A	gnomAD
rs1322690528	p.Leu77Gln	missense variant	-	NC_000001.11:g.205321399A>T	TOPMed,gnomAD
rs1368345074	p.Val78Leu	missense variant	-	NC_000001.11:g.205311825C>A	gnomAD
rs1311760335	p.Ala79Asp	missense variant	-	NC_000001.11:g.205311821G>T	gnomAD
rs1273821756	p.Ile80Val	missense variant	-	NC_000001.11:g.205311819T>C	gnomAD
rs140561355	p.Lys81Arg	missense variant	-	NC_000001.11:g.205311815T>C	ESP,ExAC,gnomAD
COSM1473309	p.Ile83Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205311809A>G	NCI-TCGA Cosmic
rs143710822	p.Arg84Gln	missense variant	-	NC_000001.11:g.205311806C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369633581	p.Arg84Trp	missense variant	-	NC_000001.11:g.205311807G>A	ESP,ExAC,TOPMed,gnomAD
rs773539973	p.Lys87Thr	missense variant	-	NC_000001.11:g.205311797T>G	ExAC,TOPMed,gnomAD
rs773539973	p.Lys87Arg	missense variant	-	NC_000001.11:g.205311797T>C	ExAC,TOPMed,gnomAD
rs771987069	p.Ile88Thr	missense variant	-	NC_000001.11:g.205311794A>G	ExAC,gnomAD
rs1425989897	p.Glu91Lys	missense variant	-	NC_000001.11:g.205311786C>T	gnomAD
NCI-TCGA novel	p.Gln92Arg	missense variant	-	NC_000001.11:g.205311782T>C	NCI-TCGA
rs1248838032	p.Leu94Pro	missense variant	-	NC_000001.11:g.205311776A>G	gnomAD
rs535358451	p.Met95Thr	missense variant	-	NC_000001.11:g.205311773A>G	1000Genomes,ExAC,gnomAD
rs780091091	p.Met95Ile	missense variant	-	NC_000001.11:g.205311772C>A	ExAC,TOPMed,gnomAD
rs769834607	p.Ile97Val	missense variant	-	NC_000001.11:g.205311768T>C	ExAC,gnomAD
rs372631048	p.Arg98Trp	missense variant	-	NC_000001.11:g.205311765G>A	ESP,ExAC,TOPMed,gnomAD
rs140977993	p.Arg98Leu	missense variant	-	NC_000001.11:g.205311764C>A	ESP,ExAC,TOPMed,gnomAD
rs140977993	p.Arg98Gln	missense variant	-	NC_000001.11:g.205311764C>T	ESP,ExAC,TOPMed,gnomAD
rs1245398075	p.Glu100Lys	missense variant	-	NC_000001.11:g.205311759C>T	gnomAD
rs777489848	p.Ile101Thr	missense variant	-	NC_000001.11:g.205311755A>G	ExAC,TOPMed,gnomAD
rs1408861511	p.Ile103Phe	missense variant	-	NC_000001.11:g.205311750T>A	gnomAD
rs1350662592	p.Met104Leu	missense variant	-	NC_000001.11:g.205311747T>A	gnomAD
rs1402628055	p.Leu107Phe	missense variant	-	NC_000001.11:g.205311738G>A	gnomAD
rs752222690	p.Asn108Ser	missense variant	-	NC_000001.11:g.205311734T>C	ExAC,TOPMed,gnomAD
COSM3789382	p.Pro110Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205311728G>A	NCI-TCGA Cosmic
rs149940131	p.Pro110Ala	missense variant	-	NC_000001.11:g.205311729G>C	ESP,ExAC,TOPMed,gnomAD
rs144149898	p.Ile112Ser	missense variant	-	NC_000001.11:g.205311722A>C	ESP,ExAC,gnomAD
rs754408564	p.Ile112Phe	missense variant	-	NC_000001.11:g.205311723T>A	ExAC,gnomAD
rs147157875	p.Ile115Val	missense variant	-	NC_000001.11:g.205311714T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773240778	p.His116Arg	missense variant	-	NC_000001.11:g.205311710T>C	ExAC,gnomAD
COSM1583942	p.Ser122Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205308720C>A	NCI-TCGA Cosmic
rs1325422287	p.Ser122Arg	missense variant	-	NC_000001.11:g.205308719G>C	TOPMed
rs145449557	p.Lys124Gln	missense variant	-	NC_000001.11:g.205308715T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1560316	p.Val126SerPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.205308707_205308710CACG>-	NCI-TCGA Cosmic
rs772550918	p.Val126Met	missense variant	-	NC_000001.11:g.205308709C>T	gnomAD
rs773026305	p.Ile127Ser	missense variant	-	NC_000001.11:g.205308705A>C	ExAC,TOPMed,gnomAD
rs746380943	p.Val128Ile	missense variant	-	NC_000001.11:g.205308703C>T	ExAC,TOPMed,gnomAD
rs746380943	p.Val128Ile	missense variant	-	NC_000001.11:g.205308703C>T	NCI-TCGA
rs1230704768	p.Glu130Gly	missense variant	-	NC_000001.11:g.205308696T>C	TOPMed
rs149625269	p.Ser133Asn	missense variant	-	NC_000001.11:g.205308687C>T	ESP,ExAC,TOPMed,gnomAD
rs115768136	p.Arg134Trp	missense variant	-	NC_000001.11:g.205308685G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138824143	p.Arg134Gln	missense variant	-	NC_000001.11:g.205308684C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371333792	p.Gly135Asp	missense variant	-	NC_000001.11:g.205308681C>T	ExAC,gnomAD
rs371333792	p.Gly135Ala	missense variant	-	NC_000001.11:g.205308681C>G	ExAC,gnomAD
rs767982138	p.Asp136Asn	missense variant	-	NC_000001.11:g.205308679C>T	ExAC,TOPMed,gnomAD
rs764446254	p.Leu137Pro	missense variant	-	NC_000001.11:g.205308675A>G	ExAC,gnomAD
rs200708216	p.Leu137Ile	missense variant	-	NC_000001.11:g.205308676G>T	1000Genomes,ExAC,gnomAD
rs200708216	p.Leu137Phe	missense variant	-	NC_000001.11:g.205308676G>A	1000Genomes,ExAC,gnomAD
rs1432766317	p.Tyr138Phe	missense variant	-	NC_000001.11:g.205308672T>A	gnomAD
rs949442037	p.Tyr140Cys	missense variant	-	NC_000001.11:g.205308666T>C	TOPMed,gnomAD
rs1052556266	p.Tyr140Asp	missense variant	-	NC_000001.11:g.205308667A>C	gnomAD
rs1052556266	p.Tyr140His	missense variant	-	NC_000001.11:g.205308667A>G	gnomAD
rs752796334	p.Ser142Gly	missense variant	-	NC_000001.11:g.205308661T>C	ExAC,TOPMed,gnomAD
rs142613609	p.Glu143Lys	missense variant	-	NC_000001.11:g.205308658C>T	ESP,ExAC,TOPMed,gnomAD
rs201895375	p.Arg144Trp	missense variant	-	NC_000001.11:g.205308655G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761600001	p.Arg144Gln	missense variant	-	NC_000001.11:g.205308654C>T	ExAC,TOPMed,gnomAD
rs201895375	p.Arg144Trp	missense variant	-	NC_000001.11:g.205308655G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu147Ile	missense variant	-	NC_000001.11:g.205308646G>T	NCI-TCGA
NCI-TCGA novel	p.Leu147ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000001.11:g.205308627_205308645CTAGCTTCGCGCTCACTGA>-	NCI-TCGA
rs1313378475	p.Ser148Gly	missense variant	-	NC_000001.11:g.205308643T>C	gnomAD
NCI-TCGA novel	p.Glu149Lys	missense variant	-	NC_000001.11:g.205308640C>T	NCI-TCGA
rs376326465	p.Arg150Cys	missense variant	-	NC_000001.11:g.205308637G>A	NCI-TCGA
rs558886995	p.Arg150His	missense variant	-	NC_000001.11:g.205308636C>T	NCI-TCGA,NCI-TCGA Cosmic
rs376326465	p.Arg150Cys	missense variant	-	NC_000001.11:g.205308637G>A	ESP,TOPMed,gnomAD
rs558886995	p.Arg150His	missense variant	-	NC_000001.11:g.205308636C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199544834	p.Glu151Lys	missense variant	-	NC_000001.11:g.205308634C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199544834	p.Glu151Lys	missense variant	-	NC_000001.11:g.205308634C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1370067847	p.Ala152Thr	missense variant	-	NC_000001.11:g.205308631C>T	gnomAD
rs769248027	p.His154Arg	missense variant	-	NC_000001.11:g.205308624T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe156Ser	missense variant	-	NC_000001.11:g.205308618A>G	NCI-TCGA
rs369252488	p.Arg157Gln	missense variant	-	NC_000001.11:g.205308615C>T	ESP,ExAC,TOPMed,gnomAD
rs746330381	p.Arg157Trp	missense variant	-	NC_000001.11:g.205308616G>A	ExAC,TOPMed,gnomAD
rs778335391	p.Val160Phe	missense variant	-	NC_000001.11:g.205308607C>A	ExAC,TOPMed,gnomAD
rs778335391	p.Val160Ile	missense variant	-	NC_000001.11:g.205308607C>T	ExAC,TOPMed,gnomAD
rs1236439822	p.Ser161Cys	missense variant	-	NC_000001.11:g.205308603G>C	TOPMed,gnomAD
rs1189238716	p.Ala162Thr	missense variant	-	NC_000001.11:g.205308601C>T	gnomAD
rs752932851	p.Val163Met	missense variant	-	NC_000001.11:g.205308598C>T	ExAC,TOPMed,gnomAD
rs752932851	p.Val163Met	missense variant	-	NC_000001.11:g.205308598C>T	NCI-TCGA
rs752932851	p.Val163Leu	missense variant	-	NC_000001.11:g.205308598C>A	ExAC,TOPMed,gnomAD
rs756261319	p.His164Leu	missense variant	-	NC_000001.11:g.205308594T>A	ExAC,gnomAD
rs756261319	p.His164Arg	missense variant	-	NC_000001.11:g.205308594T>C	ExAC,gnomAD
NCI-TCGA novel	p.His164Gln	missense variant	-	NC_000001.11:g.205308593G>T	NCI-TCGA
rs750294930	p.Tyr165Cys	missense variant	-	NC_000001.11:g.205308591T>C	ExAC,gnomAD
rs750294930	p.Tyr165Ser	missense variant	-	NC_000001.11:g.205308591T>G	ExAC,gnomAD
rs1288415428	p.Gln168Arg	missense variant	-	NC_000001.11:g.205308582T>C	gnomAD
rs762659144	p.Asn169Asp	missense variant	-	NC_000001.11:g.205308230T>C	ExAC,gnomAD
rs764816684	p.Val171Ala	missense variant	-	NC_000001.11:g.205308223A>G	ExAC,gnomAD
rs376798957	p.Arg174Ter	stop gained	-	NC_000001.11:g.205308215G>A	NCI-TCGA,NCI-TCGA Cosmic
rs376798957	p.Arg174Ter	stop gained	-	NC_000001.11:g.205308215G>A	ESP,ExAC,TOPMed,gnomAD
rs140270571	p.Arg174Gln	missense variant	-	NC_000001.11:g.205308214C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu176Ile	missense variant	-	NC_000001.11:g.205308209G>T	NCI-TCGA
rs747509039	p.Asn180Asp	missense variant	-	NC_000001.11:g.205308197T>C	ExAC,gnomAD
rs773872146	p.Asn180Ser	missense variant	-	NC_000001.11:g.205308196T>C	ExAC,gnomAD
rs772416802	p.Leu182Ile	missense variant	-	NC_000001.11:g.205308191G>T	ExAC,gnomAD
rs1210857447	p.Ala185Thr	missense variant	-	NC_000001.11:g.205308182C>T	gnomAD
rs984442224	p.Asn186Lys	missense variant	-	NC_000001.11:g.205308177A>T	gnomAD
rs150528650	p.Ile189Val	missense variant	-	NC_000001.11:g.205308170T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1369802503	p.Lys190Asn	missense variant	-	NC_000001.11:g.205308165C>A	gnomAD
rs754837282	p.Ile191Met	missense variant	-	NC_000001.11:g.205306305A>C	ExAC,gnomAD
rs1422487391	p.Ile191Thr	missense variant	-	NC_000001.11:g.205306306A>G	gnomAD
rs1422487391	p.Ile191Asn	missense variant	-	NC_000001.11:g.205306306A>T	gnomAD
rs1182690438	p.Ala192Asp	missense variant	-	NC_000001.11:g.205306303G>T	gnomAD
rs749723966	p.Gly195Ser	missense variant	-	NC_000001.11:g.205306295C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser197Cys	missense variant	-	NC_000001.11:g.205306288G>C	NCI-TCGA
rs114209340	p.Asn198Ser	missense variant	-	NC_000001.11:g.205306285T>C	1000Genomes
rs749879707	p.Asn198Lys	missense variant	-	NC_000001.11:g.205306284G>C	ExAC,TOPMed,gnomAD
rs1476380603	p.Asn198Tyr	missense variant	-	NC_000001.11:g.205306286T>A	TOPMed
rs114209340	p.Asn198Ser	missense variant	-	NC_000001.11:g.205306285T>C	NCI-TCGA,NCI-TCGA Cosmic
COSM3803609	p.His201Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205306275A>C	NCI-TCGA Cosmic
COSM4834459	p.Gln202Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205306274G>C	NCI-TCGA Cosmic
rs767094886	p.Gly203Asp	missense variant	-	NC_000001.11:g.205306270C>T	ExAC,gnomAD
rs762212449	p.Phe205Leu	missense variant	-	NC_000001.11:g.205306265A>G	ExAC,gnomAD
COSM1134803	p.Thr208Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205306255G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser212Thr	missense variant	-	NC_000001.11:g.205306243C>G	NCI-TCGA
rs1028002344	p.Pro213Leu	missense variant	-	NC_000001.11:g.205306240G>A	TOPMed,gnomAD
rs1311698752	p.Pro213Ser	missense variant	-	NC_000001.11:g.205306241G>A	gnomAD
rs1356913165	p.Ala216Ser	missense variant	-	NC_000001.11:g.205306232C>A	gnomAD
rs1165947766	p.Ala216Val	missense variant	-	NC_000001.11:g.205306231G>A	TOPMed
rs370192004	p.Ser217Leu	missense variant	-	NC_000001.11:g.205306228G>A	NCI-TCGA
rs370192004	p.Ser217Leu	missense variant	-	NC_000001.11:g.205306228G>A	ESP,ExAC,TOPMed,gnomAD
rs1370612691	p.Pro218Ser	missense variant	-	NC_000001.11:g.205306226G>A	TOPMed,gnomAD
rs1300457625	p.Ile220Thr	missense variant	-	NC_000001.11:g.205306219A>G	gnomAD
COSM1473307	p.Val221Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205306217C>A	NCI-TCGA Cosmic
rs763336598	p.Asn222Ser	missense variant	-	NC_000001.11:g.205306213T>C	ExAC,gnomAD
rs763336598	p.Asn222Ser	missense variant	-	NC_000001.11:g.205306213T>C	NCI-TCGA
rs150757729	p.Asn222Tyr	missense variant	-	NC_000001.11:g.205306214T>A	ESP,TOPMed,gnomAD
rs775639072	p.Gly223Arg	missense variant	-	NC_000001.11:g.205306211C>G	ExAC,gnomAD
rs1476313902	p.Gly223Glu	missense variant	-	NC_000001.11:g.205306210C>T	gnomAD
rs1410123518	p.Tyr226Asn	missense variant	-	NC_000001.11:g.205306202A>T	gnomAD
rs1469682131	p.Asp232Asn	missense variant	-	NC_000001.11:g.205305328C>T	gnomAD
rs1265965272	p.Ser233Ile	missense variant	-	NC_000001.11:g.205305324C>A	TOPMed,gnomAD
COSM1473306	p.Gly237Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205305312C>A	NCI-TCGA Cosmic
rs1044569655	p.Val238Ile	missense variant	-	NC_000001.11:g.205305310C>T	TOPMed,gnomAD
rs1261973927	p.Leu239Phe	missense variant	-	NC_000001.11:g.205305307G>A	gnomAD
rs770852638	p.Leu240Phe	missense variant	-	NC_000001.11:g.205305304G>A	ExAC,gnomAD
rs1363505670	p.Met248Val	missense variant	-	NC_000001.11:g.205305280T>C	gnomAD
rs199839354	p.Pro249Ser	missense variant	-	NC_000001.11:g.205305277G>A	ExAC,TOPMed,gnomAD
rs199839354	p.Pro249Ala	missense variant	-	NC_000001.11:g.205305277G>C	ExAC,TOPMed,gnomAD
rs1345776458	p.Asp251Val	missense variant	-	NC_000001.11:g.205305270T>A	TOPMed
COSM3984654	p.Asp254Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205305261T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.His255Leu	missense variant	-	NC_000001.11:g.205305258T>A	NCI-TCGA
rs779992365	p.Leu258Pro	missense variant	-	NC_000001.11:g.205305249A>G	ExAC,TOPMed,gnomAD
rs755949981	p.Ser263Gly	missense variant	-	NC_000001.11:g.205305235T>C	ExAC,TOPMed,gnomAD
rs1202817538	p.Ser263Thr	missense variant	-	NC_000001.11:g.205305234C>G	TOPMed
rs1231978677	p.Asn264Asp	missense variant	-	NC_000001.11:g.205305232T>C	TOPMed
rs780926337	p.Gly265Arg	missense variant	-	NC_000001.11:g.205305229C>T	ExAC,gnomAD
rs780926337	p.Gly265Arg	missense variant	-	NC_000001.11:g.205305229C>T	NCI-TCGA
rs751055138	p.Arg268Gln	missense variant	-	NC_000001.11:g.205305219C>T	ExAC,gnomAD
rs202048409	p.Arg268Trp	missense variant	-	NC_000001.11:g.205305220G>A	ESP,ExAC,TOPMed,gnomAD
rs763631824	p.Glu269Val	missense variant	-	NC_000001.11:g.205305216T>A	ExAC,gnomAD
rs775887109	p.Pro270Ser	missense variant	-	NC_000001.11:g.205305214G>A	ExAC,gnomAD
rs191805468	p.Asp275Tyr	missense variant	-	NC_000001.11:g.205305199C>A	1000Genomes
rs1010363052	p.Ala276Gly	missense variant	-	NC_000001.11:g.205304510G>C	TOPMed
rs777247819	p.Gly278Ser	missense variant	-	NC_000001.11:g.205304505C>T	ExAC,gnomAD
rs765807541	p.Arg281Leu	missense variant	-	NC_000001.11:g.205304495C>A	NCI-TCGA
rs757921296	p.Arg281Trp	missense variant	-	NC_000001.11:g.205304496G>A	ExAC,TOPMed,gnomAD
rs765807541	p.Arg281Leu	missense variant	-	NC_000001.11:g.205304495C>A	ExAC,TOPMed,gnomAD
rs765807541	p.Arg281Gln	missense variant	-	NC_000001.11:g.205304495C>T	ExAC,TOPMed,gnomAD
rs1408139403	p.Leu284Phe	missense variant	-	NC_000001.11:g.205304485C>A	gnomAD
rs1370005952	p.Met285Ile	missense variant	-	NC_000001.11:g.205304482C>G	TOPMed,gnomAD
rs1307389449	p.Val286Leu	missense variant	-	NC_000001.11:g.205304481C>G	gnomAD
NCI-TCGA novel	p.Val286Met	missense variant	-	NC_000001.11:g.205304481C>T	NCI-TCGA
rs1331565863	p.Thr289Ser	missense variant	-	NC_000001.11:g.205304472T>A	TOPMed
rs766695858	p.Arg290Ser	missense variant	-	NC_000001.11:g.205304469G>T	ExAC,TOPMed,gnomAD
rs766695858	p.Arg290Cys	missense variant	-	NC_000001.11:g.205304469G>A	ExAC,TOPMed,gnomAD
rs760947538	p.Arg290His	missense variant	-	NC_000001.11:g.205304468C>T	ExAC,TOPMed,gnomAD
rs773627133	p.Arg291Trp	missense variant	-	NC_000001.11:g.205304466G>A	ExAC,gnomAD
rs1418214622	p.Arg291Gln	missense variant	-	NC_000001.11:g.205304465C>T	gnomAD
rs767637960	p.Leu294Val	missense variant	-	NC_000001.11:g.205304457G>C	ExAC,gnomAD
rs1187361511	p.Val297Leu	missense variant	-	NC_000001.11:g.205304448C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser299Ile	missense variant	-	NC_000001.11:g.205304441C>A	NCI-TCGA
rs1209687157	p.Trp301Ter	stop gained	-	NC_000001.11:g.205304435C>T	gnomAD
rs1459146734	p.Asn304Thr	missense variant	-	NC_000001.11:g.205304426T>G	TOPMed
NCI-TCGA novel	p.Trp305Ter	stop gained	-	NC_000001.11:g.205304422C>T	NCI-TCGA
rs1295402757	p.Gly306Ser	missense variant	-	NC_000001.11:g.205304421C>T	gnomAD
rs770685148	p.Ala308Thr	missense variant	-	NC_000001.11:g.205304415C>T	ExAC,TOPMed,gnomAD
rs55745939	p.Thr309Pro	missense variant	-	NC_000001.11:g.205304412T>G	ExAC,TOPMed,gnomAD
rs55745939	p.Thr309Ser	missense variant	-	NC_000001.11:g.205304412T>A	ExAC,TOPMed,gnomAD
rs777411761	p.Arg310Ter	stop gained	-	NC_000001.11:g.205304409G>A	NCI-TCGA,NCI-TCGA Cosmic
rs200627742	p.Arg310Gln	missense variant	-	NC_000001.11:g.205304408C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777411761	p.Arg310Ter	stop gained	-	NC_000001.11:g.205304409G>A	ExAC,TOPMed,gnomAD
rs200627742	p.Arg310Gln	missense variant	-	NC_000001.11:g.205304408C>T	NCI-TCGA
rs200627742	p.Arg310Leu	missense variant	-	NC_000001.11:g.205304408C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778338600	p.Val311Met	missense variant	-	NC_000001.11:g.205304406C>T	ExAC,TOPMed,gnomAD
rs1410595658	p.Glu315Asp	missense variant	-	NC_000001.11:g.205304392C>A	gnomAD
rs1046761331	p.Ala316Ser	missense variant	-	NC_000001.11:g.205304391C>A	gnomAD
rs1046761331	p.Ala316Pro	missense variant	-	NC_000001.11:g.205304391C>G	gnomAD
rs374937005	p.Pro317Leu	missense variant	-	NC_000001.11:g.205304387G>A	ESP,ExAC,TOPMed,gnomAD
rs1198746899	p.Gly320Arg	missense variant	-	NC_000001.11:g.205304379C>G	TOPMed,gnomAD
rs1198746899	p.Gly320Ser	missense variant	-	NC_000001.11:g.205304379C>T	TOPMed,gnomAD
rs1293331228	p.Gly321Arg	missense variant	-	NC_000001.11:g.205304376C>T	TOPMed
NCI-TCGA novel	p.Gly321Trp	missense variant	-	NC_000001.11:g.205304376C>A	NCI-TCGA
rs375831502	p.His322Gln	missense variant	-	NC_000001.11:g.205304371G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser327LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000001.11:g.205304358A>-	NCI-TCGA
rs762173822	p.Ala328Val	missense variant	-	NC_000001.11:g.205304354G>A	ExAC,gnomAD
rs374096584	p.Arg329Pro	missense variant	-	NC_000001.11:g.205304351C>G	ESP,ExAC,TOPMed,gnomAD
rs756878231	p.Arg329Cys	missense variant	-	NC_000001.11:g.205304352G>A	ExAC,gnomAD
rs374096584	p.Arg329Leu	missense variant	-	NC_000001.11:g.205304351C>A	ESP,ExAC,TOPMed,gnomAD
rs374096584	p.Arg329His	missense variant	-	NC_000001.11:g.205304351C>T	ESP,ExAC,TOPMed,gnomAD
rs770689673	p.Ala330Thr	missense variant	-	NC_000001.11:g.205304349C>T	ExAC,TOPMed,gnomAD
rs1371484094	p.Met332Ile	missense variant	-	NC_000001.11:g.205304341C>T	gnomAD
rs1371484094	p.Met332Ile	missense variant	-	NC_000001.11:g.205304341C>A	gnomAD
rs771694167	p.Asp334Tyr	missense variant	-	NC_000001.11:g.205304337C>A	ExAC,gnomAD
rs1265007144	p.Leu336Val	missense variant	-	NC_000001.11:g.205304331G>C	TOPMed
rs200343978	p.Arg337Trp	missense variant	-	NC_000001.11:g.205304328G>A	ExAC,TOPMed,gnomAD
rs368815457	p.Arg337Gln	missense variant	-	NC_000001.11:g.205304327C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1159362081	p.Arg338Ser	missense variant	-	NC_000001.11:g.205304325G>T	TOPMed,gnomAD
rs768109551	p.Arg338His	missense variant	-	NC_000001.11:g.205304324C>T	ExAC,TOPMed,gnomAD
rs1159362081	p.Arg338Cys	missense variant	-	NC_000001.11:g.205304325G>A	TOPMed,gnomAD
rs749746384	p.Ser339Phe	missense variant	-	NC_000001.11:g.205304321G>A	ExAC,gnomAD
rs756497760	p.Arg341Cys	missense variant	-	NC_000001.11:g.205304316G>A	ExAC,TOPMed,gnomAD
rs35208615	p.Arg341His	missense variant	-	NC_000001.11:g.205304315C>T	gnomAD
rs35208615	p.Arg341Leu	missense variant	-	NC_000001.11:g.205304315C>A	UniProt,dbSNP
VAR_040965	p.Arg341Leu	missense variant	-	NC_000001.11:g.205304315C>A	UniProt
rs756497760	p.Arg341Ser	missense variant	-	NC_000001.11:g.205304316G>T	ExAC,TOPMed,gnomAD
rs35208615	p.Arg341Leu	missense variant	-	NC_000001.11:g.205304315C>A	gnomAD
COSM3482198	p.Pro342Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205304312G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu343SerPheSerTerUnkUnkUnk	frameshift	-	NC_000001.11:g.205304310G>-	NCI-TCGA
rs200604571	p.Glu345Lys	missense variant	-	NC_000001.11:g.205304304C>T	1000Genomes,ESP,TOPMed,gnomAD
rs1368821890	p.Cys351Ter	stop gained	-	NC_000001.11:g.205304284G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Cys351Phe	missense variant	-	NC_000001.11:g.205304285C>A	NCI-TCGA
rs1277940635	p.Ser352Cys	missense variant	-	NC_000001.11:g.205304283T>A	gnomAD
rs761100265	p.Phe353Leu	missense variant	-	NC_000001.11:g.205304280A>G	TOPMed
NCI-TCGA novel	p.Phe353Leu	missense variant	-	NC_000001.11:g.205304278G>T	NCI-TCGA
rs557570213	p.Phe354Leu	missense variant	-	NC_000001.11:g.205304277A>G	ExAC,TOPMed,gnomAD
rs1305530292	p.Gln356Glu	missense variant	-	NC_000001.11:g.205304271G>C	gnomAD
rs1432705698	p.Gln356His	missense variant	-	NC_000001.11:g.205304269C>A	gnomAD
rs1360983431	p.Ala358Val	missense variant	-	NC_000001.11:g.205304264G>A	gnomAD
rs764172834	p.Pro359Thr	missense variant	-	NC_000001.11:g.205304262G>T	ExAC,TOPMed,gnomAD
rs764172834	p.Pro359Ala	missense variant	-	NC_000001.11:g.205304262G>C	ExAC,TOPMed,gnomAD
rs1356955034	p.Gly360Ala	missense variant	-	NC_000001.11:g.205304258C>G	gnomAD
NCI-TCGA novel	p.Gly361Val	missense variant	-	NC_000001.11:g.205304255C>A	NCI-TCGA
rs915910375	p.Gly362Arg	missense variant	-	NC_000001.11:g.205304253C>T	TOPMed,gnomAD
rs1397511532	p.Gly362Glu	missense variant	-	NC_000001.11:g.205304252C>T	TOPMed,gnomAD
rs753771780	p.Ser363Arg	missense variant	-	NC_000001.11:g.205304248G>T	ExAC,TOPMed,gnomAD
rs1231752902	p.Thr365Ile	missense variant	-	NC_000001.11:g.205304243G>A	TOPMed
rs539524885	p.Pro366His	missense variant	-	NC_000001.11:g.205304240G>T	1000Genomes,ExAC,gnomAD
rs1167422827	p.Gly367Val	missense variant	-	NC_000001.11:g.205304237C>A	gnomAD
rs771923120	p.Leu368Pro	missense variant	-	NC_000001.11:g.205304234A>G	ExAC,TOPMed,gnomAD
rs1236977352	p.Glu369Gly	missense variant	-	NC_000001.11:g.205304231T>C	gnomAD
rs773889103	p.Arg370His	missense variant	-	NC_000001.11:g.205304228C>T	NCI-TCGA,NCI-TCGA Cosmic
rs571070763	p.Arg370Cys	missense variant	-	NC_000001.11:g.205304229G>A	NCI-TCGA
rs773889103	p.Arg370His	missense variant	-	NC_000001.11:g.205304228C>T	ExAC,TOPMed,gnomAD
rs571070763	p.Arg370Cys	missense variant	-	NC_000001.11:g.205304229G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1282447044	p.Gln371Ter	stop gained	-	NC_000001.11:g.205304226G>A	gnomAD
rs768146177	p.Ser373Ter	stop gained	-	NC_000001.11:g.205304219G>T	ExAC,TOPMed,gnomAD
rs768146177	p.Ser373Leu	missense variant	-	NC_000001.11:g.205304219G>A	ExAC,TOPMed,gnomAD
rs768146177	p.Ser373Leu	missense variant	-	NC_000001.11:g.205304219G>A	NCI-TCGA,NCI-TCGA Cosmic
rs775114171	p.Lys376Glu	missense variant	-	NC_000001.11:g.205304211T>C	ExAC,gnomAD
COSM1473305	p.Ser377Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205304207G>T	NCI-TCGA Cosmic
rs770391840	p.Arg378Cys	missense variant	-	NC_000001.11:g.205304205G>A	ExAC,gnomAD
rs746442433	p.Arg378His	missense variant	-	NC_000001.11:g.205304204C>T	ExAC,TOPMed,gnomAD
rs1414932167	p.Asn381Thr	missense variant	-	NC_000001.11:g.205304195T>G	gnomAD
rs1376722471	p.Asp382Glu	missense variant	-	NC_000001.11:g.205304191G>T	TOPMed,gnomAD
rs1186795236	p.Met383Val	missense variant	-	NC_000001.11:g.205304190T>C	TOPMed
NCI-TCGA novel	p.Ala384Thr	missense variant	-	NC_000001.11:g.205304187C>T	NCI-TCGA
rs1306764369	p.Gln385Ter	stop gained	-	NC_000001.11:g.205304184G>A	TOPMed,gnomAD
rs1306764369	p.Gln385Lys	missense variant	-	NC_000001.11:g.205304184G>T	TOPMed,gnomAD
rs757705183	p.Leu387Phe	missense variant	-	NC_000001.11:g.205304178G>A	ExAC,gnomAD
rs142260932	p.Thr391Met	missense variant	-	NC_000001.11:g.205304165G>A	ESP,ExAC,TOPMed,gnomAD
rs114143639	p.Ala392Val	missense variant	-	NC_000001.11:g.205304162G>A	1000Genomes,ExAC,gnomAD
rs758458776	p.Ala392Thr	missense variant	-	NC_000001.11:g.205304163C>T	ExAC,TOPMed,gnomAD
rs758458776	p.Ala392Thr	missense variant	-	NC_000001.11:g.205304163C>T	NCI-TCGA
rs1249659636	p.Thr395Ala	missense variant	-	NC_000001.11:g.205304154T>C	gnomAD
rs1249659636	p.Thr395Pro	missense variant	-	NC_000001.11:g.205304154T>G	gnomAD
rs756041655	p.Thr395Ile	missense variant	-	NC_000001.11:g.205304153G>A	ExAC,gnomAD
rs1007714460	p.His397Arg	missense variant	-	NC_000001.11:g.205304147T>C	TOPMed,gnomAD
rs767244934	p.Arg398Cys	missense variant	-	NC_000001.11:g.205304145G>A	ExAC,TOPMed,gnomAD
rs761519348	p.Arg398His	missense variant	-	NC_000001.11:g.205304144C>T	NCI-TCGA,NCI-TCGA Cosmic
rs761519348	p.Arg398Leu	missense variant	-	NC_000001.11:g.205304144C>A	ExAC,TOPMed,gnomAD
rs761519348	p.Arg398His	missense variant	-	NC_000001.11:g.205304144C>T	ExAC,TOPMed,gnomAD
rs767244934	p.Arg398Gly	missense variant	-	NC_000001.11:g.205304145G>C	ExAC,TOPMed,gnomAD
rs202220849	p.Pro399Ser	missense variant	-	NC_000001.11:g.205304142G>A	1000Genomes,ExAC,gnomAD
rs762706092	p.Ser402Arg	missense variant	-	NC_000001.11:g.205304131G>C	ExAC,gnomAD
rs1285840267	p.Leu404Phe	missense variant	-	NC_000001.11:g.205304127G>A	gnomAD
rs769483608	p.Leu406Pro	missense variant	-	NC_000001.11:g.205304120A>G	ExAC,gnomAD
rs746315442	p.Gly409Ser	missense variant	-	NC_000001.11:g.205304112C>T	ExAC,gnomAD
rs777279650	p.Gly409Asp	missense variant	-	NC_000001.11:g.205304111C>T	ExAC,gnomAD
rs771379151	p.Ile410Thr	missense variant	-	NC_000001.11:g.205304108A>G	ExAC
rs1181094893	p.Ala419Val	missense variant	-	NC_000001.11:g.205304081G>A	TOPMed,gnomAD
rs1409867978	p.Ala419Thr	missense variant	-	NC_000001.11:g.205304082C>T	gnomAD
rs1419744394	p.Glu420Gln	missense variant	-	NC_000001.11:g.205304079C>G	TOPMed,gnomAD
rs1251234250	p.Gly421Trp	missense variant	-	NC_000001.11:g.205304076C>A	gnomAD
NCI-TCGA novel	p.Gly421Ala	missense variant	-	NC_000001.11:g.205304075C>G	NCI-TCGA
rs758521841	p.Glu424Gln	missense variant	-	NC_000001.11:g.205304067C>G	ExAC,gnomAD
COSM1689703	p.Glu424Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205304067C>T	NCI-TCGA Cosmic
rs1254323843	p.Pro426Arg	missense variant	-	NC_000001.11:g.205304060G>C	gnomAD
rs748472624	p.Pro427Leu	missense variant	-	NC_000001.11:g.205304057G>A	ExAC,TOPMed,gnomAD
rs748472624	p.Pro427Leu	missense variant	-	NC_000001.11:g.205304057G>A	NCI-TCGA
rs755064279	p.Leu429Phe	missense variant	-	NC_000001.11:g.205304052G>A	ExAC,gnomAD
rs763469795	p.Leu429Arg	missense variant	-	NC_000001.11:g.205304051A>C	ExAC,gnomAD
COSM4835068	p.Ser430Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205304048C>G	NCI-TCGA Cosmic
rs1265840309	p.Ile432Thr	missense variant	-	NC_000001.11:g.205304042A>G	gnomAD
rs1335809900	p.Ala434Val	missense variant	-	NC_000001.11:g.205304036G>A	gnomAD
rs1237716381	p.Ala434Thr	missense variant	-	NC_000001.11:g.205304037C>T	TOPMed
rs1175115243	p.Gly437Val	missense variant	-	NC_000001.11:g.205304027C>A	TOPMed
rs1237096987	p.Ala439Asp	missense variant	-	NC_000001.11:g.205304021G>T	TOPMed
rs751278534	p.Pro441Ser	missense variant	-	NC_000001.11:g.205304016G>A	ExAC,gnomAD
rs1439714467	p.Pro441Leu	missense variant	-	NC_000001.11:g.205304015G>A	TOPMed
rs898234522	p.Leu442Met	missense variant	-	NC_000001.11:g.205304013G>T	TOPMed,gnomAD
rs146153134	p.Pro444Ser	missense variant	-	NC_000001.11:g.205304007G>A	ESP,ExAC,TOPMed,gnomAD
rs191742026	p.Gly447Asp	missense variant	-	NC_000001.11:g.205303997C>T	1000Genomes
NCI-TCGA novel	p.Gly447Ser	missense variant	-	NC_000001.11:g.205303998C>T	NCI-TCGA
rs371065495	p.Leu449Pro	missense variant	-	NC_000001.11:g.205303991A>G	ESP,TOPMed,gnomAD
rs371065495	p.Leu449Arg	missense variant	-	NC_000001.11:g.205303991A>C	ESP,TOPMed,gnomAD
COSM2215151	p.Pro452Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303982G>A	NCI-TCGA Cosmic
rs148090503	p.Arg453Gln	missense variant	-	NC_000001.11:g.205303979C>T	ESP,ExAC,TOPMed,gnomAD
rs771322956	p.Arg455Cys	missense variant	-	NC_000001.11:g.205303974G>A	ExAC,TOPMed,gnomAD
rs1259287966	p.Arg455His	missense variant	-	NC_000001.11:g.205303973C>T	gnomAD
rs773447815	p.Glu456Lys	missense variant	-	NC_000001.11:g.205303971C>T	ExAC,gnomAD
rs748260917	p.Tyr459Ter	stop gained	-	NC_000001.11:g.205303960G>C	ExAC,TOPMed,gnomAD
rs772547027	p.Tyr459Cys	missense variant	-	NC_000001.11:g.205303961T>C	ExAC,TOPMed,gnomAD
rs779114491	p.Ser461Tyr	missense variant	-	NC_000001.11:g.205303955G>T	ExAC,gnomAD
rs779114491	p.Ser461Phe	missense variant	-	NC_000001.11:g.205303955G>A	ExAC,gnomAD
rs1363445242	p.Glu464Lys	missense variant	-	NC_000001.11:g.205303947C>T	NCI-TCGA
rs1363445242	p.Glu464Lys	missense variant	-	NC_000001.11:g.205303947C>T	TOPMed,gnomAD
rs1317958527	p.Pro465Ser	missense variant	-	NC_000001.11:g.205303944G>A	gnomAD
rs373278563	p.Ser466Cys	missense variant	-	NC_000001.11:g.205303941T>A	TOPMed
rs759960920	p.Ser468Phe	missense variant	-	NC_000001.11:g.205303934G>A	ExAC,TOPMed,gnomAD
rs759960920	p.Ser468Tyr	missense variant	-	NC_000001.11:g.205303934G>T	ExAC,TOPMed,gnomAD
rs751572460	p.Glu470Ter	stop gained	-	NC_000001.11:g.205303929C>A	ExAC,gnomAD
rs1394459345	p.Leu471Pro	missense variant	-	NC_000001.11:g.205303925A>G	gnomAD
rs150379055	p.Leu472Ser	missense variant	-	NC_000001.11:g.205303922A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758213146	p.Asp473Tyr	missense variant	-	NC_000001.11:g.205303920C>A	ExAC,gnomAD
rs114625804	p.Ala474Thr	missense variant	-	NC_000001.11:g.205303917C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs759313540	p.Gly475Val	missense variant	-	NC_000001.11:g.205303913C>A	ExAC,TOPMed,gnomAD
rs375016446	p.Asp476Asn	missense variant	-	NC_000001.11:g.205303911C>T	ESP,ExAC,TOPMed,gnomAD
rs762199327	p.Val477Met	missense variant	-	NC_000001.11:g.205303908C>T	NCI-TCGA
rs762199327	p.Val477Leu	missense variant	-	NC_000001.11:g.205303908C>G	ExAC,gnomAD
rs762199327	p.Val477Met	missense variant	-	NC_000001.11:g.205303908C>T	ExAC,gnomAD
rs1250778397	p.Gly481Arg	missense variant	-	NC_000001.11:g.205303896C>T	gnomAD
rs371958492	p.Asp482Val	missense variant	-	NC_000001.11:g.205303892T>A	ESP,ExAC,gnomAD
rs371958492	p.Asp482Gly	missense variant	-	NC_000001.11:g.205303892T>C	ESP,ExAC,gnomAD
rs953103668	p.Pro483Arg	missense variant	-	NC_000001.11:g.205303889G>C	TOPMed
rs1328486379	p.Lys484Arg	missense variant	-	NC_000001.11:g.205303886T>C	TOPMed,gnomAD
rs1182887357	p.Glu485Lys	missense variant	-	NC_000001.11:g.205303884C>T	TOPMed,gnomAD
rs368670365	p.Pro488Thr	missense variant	-	NC_000001.11:g.205303875G>T	ESP,TOPMed,gnomAD
rs779985165	p.Pro489Leu	missense variant	-	NC_000001.11:g.205303871G>A	ExAC,TOPMed,gnomAD
rs749577201	p.Pro489Ser	missense variant	-	NC_000001.11:g.205303872G>A	ExAC,gnomAD
rs779985165	p.Pro489Arg	missense variant	-	NC_000001.11:g.205303871G>C	ExAC,TOPMed,gnomAD
rs1167038163	p.Ala491Val	missense variant	-	NC_000001.11:g.205303865G>A	gnomAD
rs777793992	p.Leu494Pro	missense variant	-	NC_000001.11:g.205303856A>G	ExAC,TOPMed,gnomAD
rs752515472	p.Leu496Phe	missense variant	-	NC_000001.11:g.205303851G>A	ExAC,gnomAD
rs752515472	p.Leu496Phe	missense variant	-	NC_000001.11:g.205303851G>A	NCI-TCGA,NCI-TCGA Cosmic
rs778895302	p.His497Arg	missense variant	-	NC_000001.11:g.205303847T>C	ExAC,gnomAD
rs753606733	p.Arg498His	missense variant	-	NC_000001.11:g.205303844C>T	NCI-TCGA,NCI-TCGA Cosmic
rs143749181	p.Arg498Cys	missense variant	-	NC_000001.11:g.205303845G>A	ESP,ExAC,TOPMed,gnomAD
rs143749181	p.Arg498Cys	missense variant	-	NC_000001.11:g.205303845G>A	NCI-TCGA
rs753606733	p.Arg498His	missense variant	-	NC_000001.11:g.205303844C>T	ExAC,TOPMed,gnomAD
rs188594405	p.Gly500Ala	missense variant	-	NC_000001.11:g.205303838C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1346013901	p.Leu502Pro	missense variant	-	NC_000001.11:g.205303832A>G	TOPMed,gnomAD
rs1271546767	p.Lys503Arg	missense variant	-	NC_000001.11:g.205303829T>C	gnomAD
rs750856889	p.Lys503Asn	missense variant	-	NC_000001.11:g.205303828T>A	ExAC,TOPMed,gnomAD
rs199964632	p.Leu504Pro	missense variant	-	NC_000001.11:g.205303826A>G	1000Genomes,ExAC,gnomAD
rs1478294910	p.Asn505Ser	missense variant	-	NC_000001.11:g.205303823T>C	TOPMed
rs139426041	p.Gly506Ser	missense variant	-	NC_000001.11:g.205303821C>T	ESP,ExAC,TOPMed,gnomAD
rs557595396	p.Gly506Asp	missense variant	-	NC_000001.11:g.205303820C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764500789	p.Lys507Arg	missense variant	-	NC_000001.11:g.205303817T>C	ExAC,gnomAD
rs906473153	p.Lys507Asn	missense variant	-	NC_000001.11:g.205303816C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys507Thr	missense variant	-	NC_000001.11:g.205303817T>G	NCI-TCGA
rs373376675	p.Phe508Leu	missense variant	-	NC_000001.11:g.205303813G>T	ESP,ExAC,gnomAD
rs1352072873	p.Gln510His	missense variant	-	NC_000001.11:g.205303807C>G	TOPMed
rs775781067	p.Thr511Lys	missense variant	-	NC_000001.11:g.205303805G>T	ExAC,gnomAD
rs775781067	p.Thr511Ile	missense variant	-	NC_000001.11:g.205303805G>A	ExAC,gnomAD
rs1429208628	p.Ala512Asp	missense variant	-	NC_000001.11:g.205303802G>T	TOPMed
rs1106201	p.Leu513Phe	missense variant	-	NC_000001.11:g.205303798C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769717383	p.Leu513Met	missense variant	-	NC_000001.11:g.205303800A>T	ExAC,gnomAD
rs1189371753	p.Leu515Pro	missense variant	-	NC_000001.11:g.205303793A>G	gnomAD
rs35070935	p.Ala516Val	missense variant	-	NC_000001.11:g.205303790G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs568637332	p.Ala516Thr	missense variant	-	NC_000001.11:g.205303791C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1439948275	p.Pro518Ala	missense variant	-	NC_000001.11:g.205303785G>C	gnomAD
rs1439948275	p.Pro518Ser	missense variant	-	NC_000001.11:g.205303785G>A	gnomAD
rs749927931	p.Thr519Asn	missense variant	-	NC_000001.11:g.205303781G>T	ExAC,TOPMed,gnomAD
rs749927931	p.Thr519Ile	missense variant	-	NC_000001.11:g.205303781G>A	ExAC,TOPMed,gnomAD
rs767001389	p.Thr520Asn	missense variant	-	NC_000001.11:g.205303778G>T	ExAC,gnomAD
rs767001389	p.Thr520Ile	missense variant	-	NC_000001.11:g.205303778G>A	ExAC,gnomAD
rs116631538	p.Gly522Ser	missense variant	-	NC_000001.11:g.205303773C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1146140	p.Asp525Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303764C>T	NCI-TCGA Cosmic
rs1278930053	p.Glu526Lys	missense variant	-	NC_000001.11:g.205303761C>T	gnomAD
rs753584463	p.Ala528Asp	missense variant	-	NC_000001.11:g.205303754G>T	ExAC,TOPMed,gnomAD
rs574001744	p.Ala528Thr	missense variant	-	NC_000001.11:g.205303755C>T	ExAC,TOPMed,gnomAD
rs574001744	p.Ala528Ser	missense variant	-	NC_000001.11:g.205303755C>A	ExAC,TOPMed,gnomAD
rs1455310074	p.Pro530Ser	missense variant	-	NC_000001.11:g.205303749G>A	gnomAD
rs532473739	p.Arg531Cys	missense variant	-	NC_000001.11:g.205303746G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1166613159	p.Arg531His	missense variant	-	NC_000001.11:g.205303745C>T	gnomAD
COSM3864242	p.Ala534Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303736G>A	NCI-TCGA Cosmic
rs563402132	p.Arg535Gln	missense variant	-	NC_000001.11:g.205303733C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM1146139	p.Arg535Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303733C>G	NCI-TCGA Cosmic
rs201458532	p.Arg535Trp	missense variant	-	NC_000001.11:g.205303734G>A	ESP,ExAC,TOPMed,gnomAD
rs768533126	p.Ala536Val	missense variant	-	NC_000001.11:g.205303730G>A	ExAC,gnomAD
rs779764589	p.Ser537Asn	missense variant	-	NC_000001.11:g.205303727C>T	ExAC,TOPMed,gnomAD
rs549855734	p.Arg538Gln	missense variant	-	NC_000001.11:g.205303724C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs755785724	p.Arg538Ter	stop gained	-	NC_000001.11:g.205303725G>A	ExAC,gnomAD
rs756764505	p.Gly541Arg	missense variant	-	NC_000001.11:g.205303716C>T	ExAC,gnomAD
VAR_040968	p.Gly541Glu	Missense	-	-	UniProt
rs146441542	p.Ala542Thr	missense variant	-	NC_000001.11:g.205303713C>T	ESP,ExAC,TOPMed,gnomAD
rs765590770	p.Glu545Gln	missense variant	-	NC_000001.11:g.205303704C>G	ExAC,TOPMed,gnomAD
rs765590770	p.Glu545Lys	missense variant	-	NC_000001.11:g.205303704C>T	ExAC,TOPMed,gnomAD
rs376539362	p.Asp546Glu	missense variant	-	NC_000001.11:g.205303699G>T	NCI-TCGA
rs376539362	p.Asp546Glu	missense variant	-	NC_000001.11:g.205303699G>T	-
COSM6124028	p.Ser547Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303696G>T	NCI-TCGA Cosmic
rs1286566751	p.Ile548Thr	missense variant	-	NC_000001.11:g.205303694A>G	TOPMed
NCI-TCGA novel	p.Ile548ThrGlyAla	insertion	-	NC_000001.11:g.205303693_205303694insGCGCCTGTA	NCI-TCGA
NCI-TCGA novel	p.Ile548LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.205303695_205303696insCCCAGCTACTAGGGAGGCTGAG	NCI-TCGA
rs1207104936	p.Leu549Pro	missense variant	-	NC_000001.11:g.205303691A>G	gnomAD
rs970229455	p.Glu552Lys	missense variant	-	NC_000001.11:g.205303683C>T	TOPMed
rs970229455	p.Glu552Lys	missense variant	-	NC_000001.11:g.205303683C>T	NCI-TCGA
NCI-TCGA novel	p.Glu552Val	missense variant	-	NC_000001.11:g.205303682T>A	NCI-TCGA
COSM1133290	p.Asp555Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303674C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln556Ter	stop gained	-	NC_000001.11:g.205303671G>A	NCI-TCGA
rs774383116	p.Asp558Val	missense variant	-	NC_000001.11:g.205303664T>A	ExAC,TOPMed,gnomAD
rs1442098352	p.Asp558Asn	missense variant	-	NC_000001.11:g.205303665C>T	TOPMed
NCI-TCGA novel	p.Glu561Lys	missense variant	-	NC_000001.11:g.205303656C>T	NCI-TCGA
rs141334646	p.Arg562Trp	missense variant	-	NC_000001.11:g.205303653G>A	ESP,ExAC,TOPMed,gnomAD
rs142942069	p.Arg562Gln	missense variant	-	NC_000001.11:g.205303652C>T	ESP,ExAC,TOPMed,gnomAD
rs775339532	p.Pro566Ser	missense variant	-	NC_000001.11:g.205303641G>A	ExAC,gnomAD
rs1381434196	p.Pro567Gln	missense variant	-	NC_000001.11:g.205303637G>T	TOPMed
rs745457075	p.Arg569Gln	missense variant	-	NC_000001.11:g.205303631C>T	ExAC,TOPMed,gnomAD
rs561905076	p.Arg569Trp	missense variant	-	NC_000001.11:g.205303632G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs561905076	p.Arg569Trp	missense variant	-	NC_000001.11:g.205303632G>A	NCI-TCGA,NCI-TCGA Cosmic
rs769695007	p.Gly570Cys	missense variant	-	NC_000001.11:g.205303629C>A	ExAC,TOPMed,gnomAD
rs1348348437	p.Gly570Val	missense variant	-	NC_000001.11:g.205303628C>A	gnomAD
rs1348348437	p.Gly570Ala	missense variant	-	NC_000001.11:g.205303628C>G	gnomAD
rs770374086	p.Asp575Asn	missense variant	-	NC_000001.11:g.205303614C>T	ExAC
rs904663970	p.Asn576Ser	missense variant	-	NC_000001.11:g.205303610T>C	gnomAD
rs746496473	p.Leu577Pro	missense variant	-	NC_000001.11:g.205303607A>G	ExAC,TOPMed,gnomAD
rs148583611	p.Thr578Met	missense variant	-	NC_000001.11:g.205303604G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777301287	p.Thr578Ala	missense variant	-	NC_000001.11:g.205303605T>C	ExAC,gnomAD
rs41264879	p.Leu580Phe	missense variant	-	NC_000001.11:g.205303599G>A	ExAC,TOPMed,gnomAD
rs41264877	p.Glu581Asp	missense variant	-	NC_000001.11:g.205303594C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs561167028	p.Glu582Gln	missense variant	-	NC_000001.11:g.205303593C>G	ExAC,gnomAD
rs767762521	p.Pro583Ser	missense variant	-	NC_000001.11:g.205303590G>A	ExAC,gnomAD
rs762888540	p.Pro584His	missense variant	-	NC_000001.11:g.205303586G>T	ExAC,gnomAD
rs775292969	p.Pro588Ser	missense variant	-	NC_000001.11:g.205303575G>A	ExAC,gnomAD
rs775292969	p.Pro588Thr	missense variant	-	NC_000001.11:g.205303575G>T	ExAC,gnomAD
rs1257682991	p.Arg594His	missense variant	-	NC_000001.11:g.205303556C>T	TOPMed,gnomAD
rs377410685	p.Arg594Gly	missense variant	-	NC_000001.11:g.205303557G>C	ESP,ExAC,TOPMed,gnomAD
rs377410685	p.Arg594Cys	missense variant	-	NC_000001.11:g.205303557G>A	ESP,ExAC,TOPMed,gnomAD
rs777254096	p.Arg596Gln	missense variant	-	NC_000001.11:g.205303550C>T	ExAC,TOPMed,gnomAD
rs373396807	p.Arg596Trp	missense variant	-	NC_000001.11:g.205303551G>A	ESP,ExAC,TOPMed,gnomAD
rs373396807	p.Arg596Gly	missense variant	-	NC_000001.11:g.205303551G>C	ESP,ExAC,TOPMed,gnomAD
COSM4915156	p.Asp598His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303545C>G	NCI-TCGA Cosmic
rs1353049118	p.Asp602Asn	missense variant	-	NC_000001.11:g.205303533C>T	TOPMed,gnomAD
rs748625665	p.Asp602Val	missense variant	-	NC_000001.11:g.205303532T>A	ExAC,gnomAD
rs748625665	p.Asp602Gly	missense variant	-	NC_000001.11:g.205303532T>C	ExAC,gnomAD
rs185137222	p.Ser603Asn	missense variant	-	NC_000001.11:g.205303529C>T	1000Genomes
COSM1134802	p.Cys604Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303526C>T	NCI-TCGA Cosmic
rs1415944578	p.Leu607Pro	missense variant	-	NC_000001.11:g.205303517A>G	gnomAD
rs1415944578	p.Leu607Pro	missense variant	-	NC_000001.11:g.205303517A>G	NCI-TCGA
NCI-TCGA novel	p.Leu607Ter	frameshift	-	NC_000001.11:g.205303518G>-	NCI-TCGA
rs1397614584	p.Thr608Arg	missense variant	-	NC_000001.11:g.205303514G>C	TOPMed
rs1382052454	p.Asp609Gly	missense variant	-	NC_000001.11:g.205303511T>C	gnomAD
rs1296947026	p.Cys610Phe	missense variant	-	NC_000001.11:g.205303508C>A	TOPMed,gnomAD
rs755321335	p.Glu612Ter	stop gained	-	NC_000001.11:g.205303503C>A	ExAC,gnomAD
rs1460016774	p.Val613Glu	missense variant	-	NC_000001.11:g.205303499A>T	gnomAD
rs749649226	p.Ala615Val	missense variant	-	NC_000001.11:g.205303493G>A	ExAC,TOPMed,gnomAD
COSM3482180	p.Thr616Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303490G>A	NCI-TCGA Cosmic
rs141288763	p.Arg618Gln	missense variant	-	NC_000001.11:g.205303484C>T	ESP,ExAC,TOPMed,gnomAD
rs141288763	p.Arg618Leu	missense variant	-	NC_000001.11:g.205303484C>A	ESP,ExAC,TOPMed,gnomAD
rs138419867	p.Arg618Ter	stop gained	-	NC_000001.11:g.205303485G>A	ESP,ExAC,TOPMed,gnomAD
rs1480205589	p.Gln619Glu	missense variant	-	NC_000001.11:g.205303482G>C	gnomAD
rs781143703	p.Gln619Leu	missense variant	-	NC_000001.11:g.205303481T>A	ExAC,TOPMed,gnomAD
rs759555031	p.Val623Gly	missense variant	-	NC_000001.11:g.205303469A>C	ExAC,TOPMed,gnomAD
rs1332129669	p.Val623Phe	missense variant	-	NC_000001.11:g.205303470C>A	gnomAD
rs369833173	p.Ser625Ter	stop gained	-	NC_000001.11:g.205303463G>C	ExAC,TOPMed,gnomAD
rs369833173	p.Ser625Leu	missense variant	-	NC_000001.11:g.205303463G>A	ExAC,TOPMed,gnomAD
rs766216690	p.Lys626Asn	missense variant	-	NC_000001.11:g.205303459C>A	ExAC,TOPMed,gnomAD
rs760265360	p.Leu627Pro	missense variant	-	NC_000001.11:g.205303457A>G	ExAC,gnomAD
rs1450299604	p.Ter629Gly	stop lost	-	NC_000001.11:g.205303452A>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0019196	Hepatitis C	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0346163	Endometrioid carcinoma ovary	disease	UNIPROT
C0521857	Increased drug resistance	phenotype	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000287	magnesium ion binding	IDA
GO:0004674	protein serine/threonine kinase activity	IDA
GO:0004674	protein serine/threonine kinase activity	IBA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006468	protein phosphorylation	IDA
GO:0006468	protein phosphorylation	IBA
GO:0006915	apoptotic process	IEA
GO:0030036	actin cytoskeleton organization	IDA
GO:0035556	intracellular signal transduction	IBA
GO:0042149	cellular response to glucose starvation	IDA
GO:0043066	negative regulation of apoptotic process	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IBA
GO:0005737	cytoplasm	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C006718	1,12-benzoperylene	1,12-benzoperylene results in increased expression of NUAK2 mRNA	26377693
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in increased expression of NUAK2 mRNA	26377693
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of NUAK2 mRNA	19933214
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of NUAK2 mRNA	19114083
C035207	4-amino-2,6-dinitrotoluene	4-amino-2,6-dinitrotoluene affects the expression of NUAK2 mRNA	21346803
C496492	abrine	abrine results in increased expression of NUAK2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of NUAK2 mRNA	26690555
D000082	Acetaminophen	Acetaminophen affects the expression of NUAK2 mRNA	17562736
D000111	Acetylcysteine	[indole-3-carbinol co-treated with Diethylnitrosamine co-treated with Acetylcysteine] results in decreased expression of NUAK2 mRNA	22129741
D020106	Acrylamide	Acrylamide results in increased expression of NUAK2 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of NUAK2 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of NUAK2 mRNA	21641981; 27153756;
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of NUAK2 mRNA	24449571
D001151	Arsenic	Arsenic affects the expression of NUAK2 mRNA	18414638
D001151	Arsenic	Arsenic affects the methylation of NUAK2 gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of NUAK2 mRNA	20458559
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of NUAK2 mRNA	18687144
D019324	beta-Naphthoflavone	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in decreased expression of NUAK2 mRNA	18164116
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of NUAK2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of NUAK2 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of NUAK2 mRNA	25594700
C006780	bisphenol A	bisphenol A results in increased expression of NUAK2 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of NUAK2 gene	28505145
D002220	Carbamazepine	Carbamazepine affects the expression of NUAK2 mRNA	25979313
D002922	Ciguatoxins	Ciguatoxins affects the expression of NUAK2 mRNA	18353800
D002945	Cisplatin	Cisplatin promotes the reaction [jinfukang results in decreased expression of NUAK2 mRNA]	27392435
D002945	Cisplatin	jinfukang promotes the reaction [Cisplatin results in decreased expression of NUAK2 mRNA]	27392435
D019327	Copper Sulfate	Copper Sulfate results in increased expression of NUAK2 mRNA	19549813
D003471	Cuprizone	Cuprizone results in increased expression of NUAK2 mRNA	26577399; 27523638;
D016572	Cyclosporine	Cyclosporine results in decreased expression of NUAK2 mRNA	27989131
D016572	Cyclosporine	Cyclosporine results in increased expression of NUAK2 mRNA	25562108
D003976	Diazinon	Diazinon affects the expression of NUAK2 mRNA	22546817
D003999	Dichloroacetic Acid	Dichloroacetic Acid results in decreased expression of NUAK2 mRNA	28962523
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in decreased expression of NUAK2 mRNA	18164116
D004052	Diethylnitrosamine	[indole-3-carbinol co-treated with Diethylnitrosamine co-treated with Acetylcysteine] results in decreased expression of NUAK2 mRNA	22129741
C540355	fenamidone	fenamidone results in increased expression of NUAK2 mRNA	27029645
D005485	Flutamide	Flutamide results in decreased expression of NUAK2 mRNA	24136188
D005492	Folic Acid	[Folic Acid deficiency co-treated with Methotrexate] results in increased expression of NUAK2 mRNA	24657277
D005557	Formaldehyde	Formaldehyde results in decreased expression of NUAK2 mRNA	20655997
C010974	glyphosate	[Surface-Active Agents co-treated with glyphosate] results in increased expression of NUAK2 mRNA	22467014
D006108	Graphite	Graphite affects the expression of NUAK2 mRNA	29933104
C016517	indole-3-carbinol	[indole-3-carbinol co-treated with Diethylnitrosamine co-treated with Acetylcysteine] results in decreased expression of NUAK2 mRNA	22129741
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of NUAK2 mRNA	25613284
C544151	jinfukang	Cisplatin promotes the reaction [jinfukang results in decreased expression of NUAK2 mRNA]	27392435
C544151	jinfukang	jinfukang promotes the reaction [Cisplatin results in decreased expression of NUAK2 mRNA]	27392435
C008261	lead acetate	lead acetate results in increased expression of NUAK2 mRNA	21829687
D000077339	Leflunomide	Leflunomide results in increased expression of NUAK2 mRNA	28988120
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of NUAK2 mRNA	26378955
D008727	Methotrexate	[Folic Acid deficiency co-treated with Methotrexate] results in increased expression of NUAK2 mRNA	24657277
D008727	Methotrexate	Methotrexate results in decreased expression of NUAK2 mRNA	24449571
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of NUAK2 mRNA	26011545
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of NUAK2 mRNA	25554681
D009534	Niclosamide	Niclosamide results in decreased expression of NUAK2 mRNA	31398420
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of NUAK2 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of NUAK2 mRNA	25729387
D000077767	Panobinostat	Panobinostat results in decreased expression of NUAK2 mRNA	26272509
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in increased expression of NUAK2 mRNA	27153767
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of NUAK2 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of NUAK2 mRNA	23811191
C060540	polyhexamethyleneguanidine	polyhexamethyleneguanidine affects the expression of NUAK2 mRNA	29337256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of NUAK2 mRNA	22714537
D011205	Povidone	[Silver analog co-treated with Povidone] results in decreased expression of NUAK2 mRNA	25194297
C045950	propiconazole	propiconazole results in decreased expression of NUAK2 mRNA	21278054
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of NUAK2 mRNA	27029645
C012526	quercitrin	quercitrin results in decreased expression of NUAK2 mRNA	25193878
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of NUAK2 mRNA	21427059
C010327	salinomycin	salinomycin results in decreased expression of NUAK2 mRNA	19682730
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of NUAK2 mRNA	23806026
D012834	Silver	Silver results in increased expression of NUAK2 mRNA	26014281; 28959546;
D012834	Silver	[Silver analog co-treated with Povidone] results in decreased expression of NUAK2 mRNA	25194297
D012999	Soman	Soman results in increased expression of NUAK2 mRNA	19281266
D053260	Soot	Soot results in increased expression of NUAK2 mRNA	26551751
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of NUAK2 mRNA	26378955
D000077210	Sunitinib	Sunitinib results in increased expression of NUAK2 mRNA	31533062
D013501	Surface-Active Agents	[Surface-Active Agents co-treated with glyphosate] results in increased expression of NUAK2 mRNA	22467014
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of NUAK2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NUAK2 mRNA	19933214
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in decreased expression of NUAK2 mRNA	25975270
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NUAK2 mRNA	21215274
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of NUAK2 mRNA	25613284
C009495	titanium dioxide	titanium dioxide results in increased expression of NUAK2 mRNA	23557971
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of NUAK2 mRNA	25729387
D014241	Trichloroethylene	Trichloroethylene results in decreased expression of NUAK2 mRNA	25549359
C012589	trichostatin A	trichostatin A results in decreased expression of NUAK2 mRNA	26272509
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of NUAK2 mRNA	26743178
D000077288	Troglitazone	Troglitazone results in decreased expression of NUAK2 mRNA	19140230
D014635	Valproic Acid	Valproic Acid affects the expression of NUAK2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of NUAK2 mRNA	26272509; 29154799;
D014635	Valproic Acid	Valproic Acid results in increased expression of NUAK2 mRNA	21427059
C586755	WZ4003	WZ4003 results in decreased activity of NUAK2 protein	24171924
D019287	Zinc Sulfate	Zinc Sulfate results in increased expression of NUAK2 mRNA	27215404

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0053	Apoptosis
KW-0067	ATP-binding
KW-0903	Direct protein sequencing
KW-0418	Kinase
KW-0460	Magnesium
KW-0479	Metal-binding
KW-0547	Nucleotide-binding
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0723	Serine/threonine-protein kinase
KW-0808	Transferase

Interpro

InterPro ID	InterPro Term
IPR011009	Kinase-like_dom_sf
IPR000719	Prot_kinase_dom
IPR017441	Protein_kinase_ATP_BS
IPR008271	Ser/Thr_kinase_AS

PROSITE

PROSITE ID	PROSITE Term
PS00107	PROTEIN_KINASE_ATP
PS50011	PROTEIN_KINASE_DOM
PS00108	PROTEIN_KINASE_ST

Pfam

Pfam ID	Pfam Term
PF00069	Pkinase

Gene: NUAK2

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