CleftGeneDB-Search

Gene: ESRP2

Basic information

Tag	Content
Uniprot ID	Q9H6T0; Q8N6H8; Q8WZ15; Q9H6I4;
Entrez ID	80004
Genbank protein ID	AAL55761.1; BAB15275.1; AAH30146.1; BAB15173.1;
Genbank nucleotide ID	NM_024939.2
Ensembl protein ID	ENSP00000454554; ENSP00000418748;
Ensembl nucleotide ID	ENSG00000103067
Gene name	Epithelial splicing regulatory protein 2
Gene symbol	ESRP2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2.
Sequence	MTPPPPPPPP PGPDPAADPA ADPCPWPGSL VVLFGATAGA LGRDLGSDET DLILLVWQVV 60 EPRSRQVGTL HKSLVRAEAA ALSTQCREAS GLSADSLARA EPLDKVLQQF SQLVNGDVAL 120 LGGGPYMLCT DGQQLLRQVL HPEASRKNLV LPDMFFSFYD LRREFHMQHP STCPARDLTV 180 ATMAQGLGLE TDATEDDFGV WEVKTMVAVI LHLLKEPSSQ LFSKPEVIKQ KYETGPCSDS 240 TVPCPYSSKA DVVDSETVVR ARGLPWQSSD QDVARFFKGL NVARGGVALC LNAQGRRNGE 300 ALIRFVDSEQ RDLALQRHKH HMGVRYIEVY KATGEEFVKI AGGTSLEVAR FLSREDQVIL 360 RLRGLPFSAG PTDVLGFLGP ECPVTGGTEG LLFVRHPDGR PTGDAFALFA CEELAQAALR 420 RHKGMLGKRY IELFRSTAAE VQQVLNRYAS GPLLPTLTAP LLPIPFPLAP GTGRDCVRLR 480 GLPYTATIED ILSFLGEAAA DIRPHGVHMV LNQQGRPSGD AFIQMTSAER ALAAAQRCHK 540 KVMKERYVEV VPCSTEEMSR VLMGGTLGRS GMSPPPCKLP CLSPPTYTTF QATPTLIPTE 600 TAALYPSSAL LPAARVPAAP TPVAYYPGPA TQLYLNYTAY YPSPPVSPTT VGYLTTPTAA 660 LASAPTSVLS QSGALVRMQG VPYTAGMKDL LSVFQAYQLP ADDYTSLMPV GDPPRTVLQA 720 PKEWVCL 727

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	ESRP2	489745	F1PA85		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ESRP2	102181230	A0A452FYS9		Capra hircus	Prediction	More>>
1:1 ortholog	ESRP2	80004	Q9H6T0		Homo sapiens	Prediction	More>>
1:1 ortholog	Esrp2	77411	Q8K0G8	CLP	Mus musculus	Publication	More>>
1:1 ortholog	ESRP2		A0A2I3SHP8		Pan troglodytes	Prediction	More>>
1:1 ortholog	ESRP2	100355035	G1SF15		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Esrp2	307810	G3V8M2		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs762506024	p.Pro3Gln	missense variant	-	NC_000016.10:g.68236038G>T	ExAC,gnomAD
rs762506024	p.Pro3Leu	missense variant	-	NC_000016.10:g.68236038G>A	ExAC,gnomAD
rs1490590250	p.Pro4Ser	missense variant	-	NC_000016.10:g.68236036G>A	TOPMed,gnomAD
rs775200064	p.Pro4Gln	missense variant	-	NC_000016.10:g.68236035G>T	ExAC,TOPMed,gnomAD
rs775200064	p.Pro4Leu	missense variant	-	NC_000016.10:g.68236035G>A	ExAC,TOPMed,gnomAD
rs745543475	p.Pro7Ser	missense variant	-	NC_000016.10:g.68236027G>A	ExAC,gnomAD
rs776235829	p.Pro8Thr	missense variant	-	NC_000016.10:g.68236024G>T	ExAC,gnomAD
rs994902409	p.Pro9Leu	missense variant	-	NC_000016.10:g.68236020G>A	TOPMed
rs1218625150	p.Pro9Thr	missense variant	-	NC_000016.10:g.68236021G>T	gnomAD
rs770884448	p.Pro10Ser	missense variant	-	NC_000016.10:g.68236018G>A	ExAC,TOPMed,gnomAD
rs1276174915	p.Pro11Ser	missense variant	-	NC_000016.10:g.68236015G>A	TOPMed,gnomAD
rs1291509195	p.Pro11Leu	missense variant	-	NC_000016.10:g.68236014G>A	TOPMed
rs1483146212	p.Gly12Arg	missense variant	-	NC_000016.10:g.68236012C>G	TOPMed
rs1349264437	p.Pro15Ser	missense variant	-	NC_000016.10:g.68236003G>A	gnomAD
rs777909147	p.Ala16Glu	missense variant	-	NC_000016.10:g.68235999G>T	ExAC,gnomAD
rs755098271	p.Asp18Asn	missense variant	-	NC_000016.10:g.68235994C>T	ExAC,TOPMed,gnomAD
rs749396349	p.Pro19Ser	missense variant	-	NC_000016.10:g.68235991G>A	ExAC,gnomAD
rs1174764419	p.Ala20Val	missense variant	-	NC_000016.10:g.68235987G>A	gnomAD
rs1180317709	p.Pro23Ser	missense variant	-	NC_000016.10:g.68235979G>A	gnomAD
rs375465518	p.Pro23Leu	missense variant	-	NC_000016.10:g.68235978G>A	ESP,gnomAD
rs1436764662	p.Pro25Leu	missense variant	-	NC_000016.10:g.68235972G>A	TOPMed
rs1188141325	p.Trp26Arg	missense variant	-	NC_000016.10:g.68235970A>G	TOPMed
rs750680674	p.Gly28Ter	stop gained	-	NC_000016.10:g.68235964C>A	ExAC,TOPMed,gnomAD
rs750680674	p.Gly28Arg	missense variant	-	NC_000016.10:g.68235964C>T	ExAC,TOPMed,gnomAD
rs750680674	p.Gly28Arg	missense variant	-	NC_000016.10:g.68235964C>G	ExAC,TOPMed,gnomAD
COSM4062102	p.Gly28Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68235963C>T	NCI-TCGA Cosmic
rs767836179	p.Val31Ala	missense variant	-	NC_000016.10:g.68235954A>G	ExAC,gnomAD
rs1327892717	p.Val32Ile	missense variant	-	NC_000016.10:g.68235952C>T	gnomAD
rs757667748	p.Leu33Phe	missense variant	-	NC_000016.10:g.68235949G>A	ExAC,gnomAD
rs752046751	p.Phe34Leu	missense variant	-	NC_000016.10:g.68235944G>C	ExAC,TOPMed,gnomAD
rs764650345	p.Gly35Arg	missense variant	-	NC_000016.10:g.68235943C>G	ExAC,TOPMed
rs1312914556	p.Gly35Val	missense variant	-	NC_000016.10:g.68235942C>A	gnomAD
rs1009161101	p.Ala36Asp	missense variant	-	NC_000016.10:g.68235939G>T	TOPMed,gnomAD
rs1009161101	p.Ala36Val	missense variant	-	NC_000016.10:g.68235939G>A	TOPMed,gnomAD
COSM5082711	p.Thr37Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68235936G>A	NCI-TCGA Cosmic
rs774801980	p.Ala38Gly	missense variant	-	NC_000016.10:g.68235933G>C	ExAC,TOPMed,gnomAD
rs774801980	p.Ala38Glu	missense variant	-	NC_000016.10:g.68235933G>T	ExAC,TOPMed,gnomAD
rs759066784	p.Gly39Cys	missense variant	-	NC_000016.10:g.68235931C>A	ExAC,TOPMed,gnomAD
rs759066784	p.Gly39Arg	missense variant	-	NC_000016.10:g.68235931C>G	ExAC,TOPMed,gnomAD
rs770831377	p.Ala40Gly	missense variant	-	NC_000016.10:g.68235927G>C	ExAC
rs1156994175	p.Leu41Pro	missense variant	-	NC_000016.10:g.68235924A>G	gnomAD
rs137888852	p.Arg43Gln	missense variant	-	NC_000016.10:g.68235918C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs137888852	p.Arg43Pro	missense variant	-	NC_000016.10:g.68235918C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs137888852	p.Arg43Leu	missense variant	-	NC_000016.10:g.68235918C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748133000	p.Arg43Trp	missense variant	-	NC_000016.10:g.68235919G>A	ExAC,TOPMed,gnomAD
rs748133000	p.Arg43Gly	missense variant	-	NC_000016.10:g.68235919G>C	ExAC,TOPMed,gnomAD
rs746055313	p.Asp44Gly	missense variant	-	NC_000016.10:g.68235915T>C	ExAC
rs1204284730	p.Leu45Gln	missense variant	-	NC_000016.10:g.68235912A>T	gnomAD
rs778121279	p.Asp48Glu	missense variant	-	NC_000016.10:g.68235902G>T	ExAC,TOPMed,gnomAD
rs758778671	p.Glu49Lys	missense variant	-	NC_000016.10:g.68235901C>T	ExAC,gnomAD
rs764625215	p.Asp51Asn	missense variant	-	NC_000016.10:g.68235895C>T	ExAC,TOPMed,gnomAD
rs759139431	p.Leu52Ile	missense variant	-	NC_000016.10:g.68235892A>T	ExAC,TOPMed,gnomAD
rs766204954	p.Val56Leu	missense variant	-	NC_000016.10:g.68235880C>G	ExAC,TOPMed,gnomAD
rs766204954	p.Val56Ile	missense variant	-	NC_000016.10:g.68235880C>T	ExAC,TOPMed,gnomAD
rs1318687117	p.Gln58Ter	stop gained	-	NC_000016.10:g.68235874G>A	gnomAD
rs1345821612	p.Val59Gly	missense variant	-	NC_000016.10:g.68235870A>C	gnomAD
rs372489744	p.Val59Met	missense variant	-	NC_000016.10:g.68235871C>T	ESP,ExAC,TOPMed,gnomAD
rs1164373120	p.Val60Gly	missense variant	-	NC_000016.10:g.68235867A>C	gnomAD
rs771924158	p.Glu61Ala	missense variant	-	NC_000016.10:g.68235864T>G	ExAC,TOPMed,gnomAD
rs1371621996	p.Arg63Pro	missense variant	-	NC_000016.10:g.68235858C>G	TOPMed
rs774394898	p.Ser64Asn	missense variant	-	NC_000016.10:g.68235855C>T	ExAC,TOPMed,gnomAD
rs774394898	p.Ser64Ile	missense variant	-	NC_000016.10:g.68235855C>A	ExAC,TOPMed,gnomAD
rs375500517	p.Ser64Gly	missense variant	-	NC_000016.10:g.68235856T>C	ESP,ExAC,TOPMed,gnomAD
rs141215159	p.Arg65Cys	missense variant	-	NC_000016.10:g.68235853G>A	ESP,ExAC,TOPMed,gnomAD
rs1300744116	p.Gly68Arg	missense variant	-	NC_000016.10:g.68235759C>G	TOPMed,gnomAD
rs1347395523	p.Thr69Lys	missense variant	-	NC_000016.10:g.68235755G>T	TOPMed,gnomAD
rs1347395523	p.Thr69Arg	missense variant	-	NC_000016.10:g.68235755G>C	TOPMed,gnomAD
rs1409392559	p.His71Tyr	missense variant	-	NC_000016.10:g.68235750G>A	gnomAD
rs1455813069	p.Lys72Glu	missense variant	-	NC_000016.10:g.68235747T>C	TOPMed
rs1368532344	p.Ser73Leu	missense variant	-	NC_000016.10:g.68235743G>A	gnomAD
rs1265805848	p.Leu74Gln	missense variant	-	NC_000016.10:g.68235740A>T	gnomAD
rs1358119167	p.Leu74Met	missense variant	-	NC_000016.10:g.68235741G>T	gnomAD
rs768571205	p.Arg76His	missense variant	-	NC_000016.10:g.68235734C>T	ExAC,gnomAD
rs774148847	p.Arg76Ser	missense variant	-	NC_000016.10:g.68235735G>T	ExAC,gnomAD
rs762889970	p.Ala77Thr	missense variant	-	NC_000016.10:g.68235732C>T	ExAC,gnomAD
rs1384734992	p.Glu78Gln	missense variant	-	NC_000016.10:g.68235729C>G	TOPMed
rs1384734992	p.Glu78Lys	missense variant	-	NC_000016.10:g.68235729C>T	TOPMed
rs1386956476	p.Ala80Thr	missense variant	-	NC_000016.10:g.68235723C>T	TOPMed
rs747198862	p.Ala80Val	missense variant	-	NC_000016.10:g.68235722G>A	ExAC,gnomAD
rs1343080560	p.Ala81Ser	missense variant	-	NC_000016.10:g.68235720C>A	TOPMed
rs779154272	p.Ser83Asn	missense variant	-	NC_000016.10:g.68235713C>T	ExAC,gnomAD
rs1255922588	p.Thr84Lys	missense variant	-	NC_000016.10:g.68235710G>T	TOPMed,gnomAD
rs1255922588	p.Thr84Met	missense variant	-	NC_000016.10:g.68235710G>A	TOPMed,gnomAD
rs755456270	p.Cys86Ser	missense variant	-	NC_000016.10:g.68235704C>G	ExAC,gnomAD
rs962118706	p.Arg87Ser	missense variant	-	NC_000016.10:g.68235702G>T	TOPMed,gnomAD
rs962118706	p.Arg87Gly	missense variant	-	NC_000016.10:g.68235702G>C	TOPMed,gnomAD
rs749835392	p.Arg87His	missense variant	-	NC_000016.10:g.68235701C>T	ExAC,TOPMed,gnomAD
rs779673530	p.Glu88Gln	missense variant	-	NC_000016.10:g.68235699C>G	ExAC,gnomAD
COSM3511199	p.Glu88Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68235699C>T	NCI-TCGA Cosmic
rs1015541818	p.Gly91Ser	missense variant	-	NC_000016.10:g.68235690C>T	TOPMed
rs1401151496	p.Gly91Val	missense variant	-	NC_000016.10:g.68235689C>A	gnomAD
rs767266315	p.Ser93Asn	missense variant	-	NC_000016.10:g.68235683C>T	ExAC,gnomAD
rs1271396377	p.Asp95Gly	missense variant	-	NC_000016.10:g.68235677T>C	TOPMed
rs1157763584	p.Ser96Ile	missense variant	-	NC_000016.10:g.68235674C>A	gnomAD
rs756864203	p.Ser96Arg	missense variant	-	NC_000016.10:g.68235673G>T	ExAC,gnomAD
rs1181996101	p.Arg99Pro	missense variant	-	NC_000016.10:g.68235665C>G	gnomAD
rs1009068080	p.Arg99Trp	missense variant	-	NC_000016.10:g.68235666G>A	TOPMed,gnomAD
rs1181996101	p.Arg99Gln	missense variant	-	NC_000016.10:g.68235665C>T	gnomAD
rs751310467	p.Ala100Gly	missense variant	-	NC_000016.10:g.68235662G>C	ExAC,TOPMed,gnomAD
rs1255854334	p.Pro102Thr	missense variant	-	NC_000016.10:g.68235657G>T	gnomAD
rs1208174156	p.Gln109Ter	stop gained	-	NC_000016.10:g.68235636G>A	gnomAD
rs766420891	p.Gln109His	missense variant	-	NC_000016.10:g.68235634C>G	ExAC,gnomAD
rs1168535857	p.Leu113Gln	missense variant	-	NC_000016.10:g.68234097A>T	gnomAD
rs1366287630	p.Val114Met	missense variant	-	NC_000016.10:g.68234095C>T	TOPMed
rs200133479	p.Gly116Arg	missense variant	-	NC_000016.10:g.68234089C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200133479	p.Gly116Arg	missense variant	-	NC_000016.10:g.68234089C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1267040388	p.Asp117Tyr	missense variant	-	NC_000016.10:g.68234086C>A	gnomAD
COSM3511197	p.Asp117Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68234085T>C	NCI-TCGA Cosmic
rs1224955531	p.Ala119Asp	missense variant	-	NC_000016.10:g.68234079G>T	gnomAD
rs774478429	p.Leu121Arg	missense variant	-	NC_000016.10:g.68234073A>C	ExAC,gnomAD
rs372633810	p.Gly122Arg	missense variant	-	NC_000016.10:g.68234071C>G	TOPMed,gnomAD
rs769121857	p.Gly123Trp	missense variant	-	NC_000016.10:g.68234068C>A	ExAC,TOPMed,gnomAD
rs769121857	p.Gly123Arg	missense variant	-	NC_000016.10:g.68234068C>T	ExAC,TOPMed,gnomAD
rs749735281	p.Gly123Val	missense variant	-	NC_000016.10:g.68234067C>A	ExAC,gnomAD
rs746382652	p.Gly124Asp	missense variant	-	NC_000016.10:g.68234064C>T	ExAC,gnomAD
rs780709415	p.Pro125His	missense variant	-	NC_000016.10:g.68234061G>T	ExAC,TOPMed,gnomAD
rs1304616140	p.Pro125Ser	missense variant	-	NC_000016.10:g.68234062G>A	gnomAD
rs1339664401	p.Met127Thr	missense variant	-	NC_000016.10:g.68234055A>G	gnomAD
rs777457807	p.Met127Val	missense variant	-	NC_000016.10:g.68234056T>C	ExAC,gnomAD
rs777457807	p.Met127Leu	missense variant	-	NC_000016.10:g.68234056T>G	ExAC,gnomAD
rs758188895	p.Leu128Phe	missense variant	-	NC_000016.10:g.68234053G>A	ExAC,TOPMed,gnomAD
rs1361146706	p.Thr130Ile	missense variant	-	NC_000016.10:g.68234046G>A	TOPMed
rs1477756728	p.Asp131Asn	missense variant	-	NC_000016.10:g.68234044C>T	TOPMed,gnomAD
rs1477756728	p.Asp131Tyr	missense variant	-	NC_000016.10:g.68234044C>A	TOPMed,gnomAD
rs372580669	p.Leu136Phe	missense variant	-	NC_000016.10:g.68234027C>A	ESP,ExAC,TOPMed,gnomAD
rs1250892802	p.Arg137Ter	stop gained	-	NC_000016.10:g.68234026G>A	TOPMed,gnomAD
rs753751967	p.Arg137Gln	missense variant	-	NC_000016.10:g.68234025C>T	ExAC,TOPMed,gnomAD
rs375942085	p.Val139Ala	missense variant	-	NC_000016.10:g.68234019A>G	ExAC,TOPMed,gnomAD
rs751795357	p.Pro142Ala	missense variant	-	NC_000016.10:g.68234011G>C	ExAC
rs769868527	p.del142TerTrpAlaAlaUnk	stop gained	-	NC_000016.10:g.68234011_68234012insCTGCTGCCCATCA	ExAC
rs142161656	p.Glu143Ter	stop gained	-	NC_000016.10:g.68234008C>A	ESP,ExAC,gnomAD
rs142161656	p.Glu143Lys	missense variant	-	NC_000016.10:g.68234008C>T	ESP,ExAC,gnomAD
rs1390064722	p.Ala144Thr	missense variant	-	NC_000016.10:g.68234005C>T	TOPMed
rs1435004207	p.Ser145Pro	missense variant	-	NC_000016.10:g.68234002A>G	gnomAD
rs770313911	p.Lys147Thr	missense variant	-	NC_000016.10:g.68233995T>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys147ArgPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.68233995T>-	NCI-TCGA
rs996780718	p.Val150Met	missense variant	-	NC_000016.10:g.68233876C>T	TOPMed,gnomAD
rs117942778	p.Pro152Ser	missense variant	-	NC_000016.10:g.68233870G>A	1000Genomes,ExAC,gnomAD
rs78705766	p.Asp153Asn	missense variant	-	NC_000016.10:g.68233867C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs549404770	p.Met154Thr	missense variant	-	NC_000016.10:g.68233863A>G	1000Genomes,ExAC,gnomAD
rs747767489	p.Phe155Ser	missense variant	-	NC_000016.10:g.68233860A>G	ExAC,gnomAD
rs774040716	p.Ser157Phe	missense variant	-	NC_000016.10:g.68233854G>A	ExAC,TOPMed
rs1245724537	p.Phe158Leu	missense variant	-	NC_000016.10:g.68233850G>C	gnomAD
rs768485482	p.Tyr159His	missense variant	-	NC_000016.10:g.68233849A>G	ExAC,gnomAD
rs1333022820	p.Asp160His	missense variant	-	NC_000016.10:g.68233846C>G	TOPMed
rs749106144	p.Arg162Ter	stop gained	-	NC_000016.10:g.68233840G>A	ExAC,TOPMed,gnomAD
rs779909429	p.Arg162Gln	missense variant	-	NC_000016.10:g.68233839C>T	ExAC,TOPMed,gnomAD
rs755954576	p.Arg163Lys	missense variant	-	NC_000016.10:g.68233836C>T	ExAC,gnomAD
COSM972712	p.Glu164Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68233834C>A	NCI-TCGA Cosmic
rs745830254	p.Met167Ile	missense variant	-	NC_000016.10:g.68233823C>T	ExAC,gnomAD
rs1485125589	p.Pro170Leu	missense variant	-	NC_000016.10:g.68233815G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro170Ser	missense variant	-	NC_000016.10:g.68233816G>A	NCI-TCGA
rs147005145	p.Thr172Ile	missense variant	-	NC_000016.10:g.68233809G>A	ESP,ExAC,TOPMed,gnomAD
rs1163095463	p.Arg176Ser	missense variant	-	NC_000016.10:g.68233796C>G	gnomAD
rs1386803619	p.Asp177Ala	missense variant	-	NC_000016.10:g.68233794T>G	gnomAD
rs758595846	p.Asp177His	missense variant	-	NC_000016.10:g.68233795C>G	ExAC,gnomAD
rs758595846	p.Asp177Asn	missense variant	-	NC_000016.10:g.68233795C>T	ExAC,gnomAD
rs752950769	p.Met183Thr	missense variant	-	NC_000016.10:g.68233776A>G	ExAC,gnomAD
rs765441682	p.Gln185Leu	missense variant	-	NC_000016.10:g.68233770T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln185Ter	stop gained	-	NC_000016.10:g.68233771G>A	NCI-TCGA
rs755229642	p.Gln185His	missense variant	-	NC_000016.10:g.68233769C>G	ExAC,TOPMed,gnomAD
rs1314978210	p.Gly186Asp	missense variant	-	NC_000016.10:g.68233425C>T	TOPMed
rs754097001	p.Gly186Ser	missense variant	-	NC_000016.10:g.68233768C>T	ExAC,gnomAD
rs1238545555	p.Leu189Arg	missense variant	-	NC_000016.10:g.68233416A>C	TOPMed,gnomAD
rs1238545555	p.Leu189Pro	missense variant	-	NC_000016.10:g.68233416A>G	TOPMed,gnomAD
rs1333818422	p.Glu190Lys	missense variant	-	NC_000016.10:g.68233414C>T	gnomAD
rs1391963682	p.Thr191Ala	missense variant	-	NC_000016.10:g.68233411T>C	gnomAD
rs1381930766	p.Asp192His	missense variant	-	NC_000016.10:g.68233408C>G	gnomAD
rs1334530104	p.Ala193Val	missense variant	-	NC_000016.10:g.68233404G>A	gnomAD
rs200823185	p.Thr194Arg	missense variant	-	NC_000016.10:g.68233401G>C	1000Genomes,ExAC,gnomAD
rs749449404	p.Glu195Gly	missense variant	-	NC_000016.10:g.68233398T>C	ExAC,gnomAD
rs768824720	p.Glu195Lys	missense variant	-	NC_000016.10:g.68233399C>T	ExAC,TOPMed,gnomAD
rs768824720	p.Glu195Gln	missense variant	-	NC_000016.10:g.68233399C>G	ExAC,TOPMed,gnomAD
rs1362484652	p.Asp196Gly	missense variant	-	NC_000016.10:g.68233395T>C	gnomAD
rs1243079844	p.Asp197Glu	missense variant	-	NC_000016.10:g.68233391G>C	gnomAD
rs756468452	p.Asp197Asn	missense variant	-	NC_000016.10:g.68233393C>T	ExAC,gnomAD
rs373477664	p.Gly199Val	missense variant	-	NC_000016.10:g.68233386C>A	ESP,TOPMed,gnomAD
rs373477664	p.Gly199Glu	missense variant	-	NC_000016.10:g.68233386C>T	ESP,TOPMed,gnomAD
rs760018503	p.Val200Ala	missense variant	-	NC_000016.10:g.68233383A>G	gnomAD
rs781557581	p.Trp201Gly	missense variant	-	NC_000016.10:g.68233381A>C	ExAC,gnomAD
rs1348803949	p.Glu202Asp	missense variant	-	NC_000016.10:g.68233376T>G	gnomAD
rs1197199290	p.Thr205Ser	missense variant	-	NC_000016.10:g.68233369T>A	TOPMed
rs1262331470	p.Thr205Ile	missense variant	-	NC_000016.10:g.68233368G>A	gnomAD
rs1237927983	p.Met206Ile	missense variant	-	NC_000016.10:g.68233364C>T	TOPMed
rs757720822	p.Ile210Thr	missense variant	-	NC_000016.10:g.68233353A>G	ExAC,TOPMed,gnomAD
rs201764029	p.Ile210Met	missense variant	-	NC_000016.10:g.68233352G>C	1000Genomes,ExAC,gnomAD
rs763488897	p.Leu211Phe	missense variant	-	NC_000016.10:g.68233351G>A	ExAC,gnomAD
rs1411016480	p.His212Gln	missense variant	-	NC_000016.10:g.68233346A>T	TOPMed
rs565467512	p.His212Arg	missense variant	-	NC_000016.10:g.68233347T>C	1000Genomes,ExAC,gnomAD
rs907282912	p.His212Tyr	missense variant	-	NC_000016.10:g.68233348G>A	TOPMed,gnomAD
rs752283220	p.Leu213Val	missense variant	-	NC_000016.10:g.68233345G>C	ExAC,gnomAD
rs1289016770	p.Pro217His	missense variant	-	NC_000016.10:g.68233332G>T	gnomAD
rs764912546	p.Ser218Asn	missense variant	-	NC_000016.10:g.68233329C>T	ExAC,gnomAD
rs923854670	p.Ser223Ter	stop gained	-	NC_000016.10:g.68232803G>T	TOPMed,gnomAD
rs923854670	p.Ser223Leu	missense variant	-	NC_000016.10:g.68232803G>A	TOPMed,gnomAD
rs574031396	p.Glu226Lys	missense variant	-	NC_000016.10:g.68232795C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778406538	p.Val227Met	missense variant	-	NC_000016.10:g.68232792C>T	ExAC,gnomAD
rs971375656	p.Ile228Met	missense variant	-	NC_000016.10:g.68232787T>C	TOPMed
NCI-TCGA novel	p.Gln230AlaPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.68232784_68232785insT	NCI-TCGA
rs149148189	p.Glu233Gln	missense variant	-	NC_000016.10:g.68232774C>G	ESP,ExAC,TOPMed,gnomAD
rs149148189	p.Glu233Lys	missense variant	-	NC_000016.10:g.68232774C>T	ESP,ExAC,TOPMed,gnomAD
rs200159546	p.Thr234Met	missense variant	-	NC_000016.10:g.68232770G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200159546	p.Thr234Lys	missense variant	-	NC_000016.10:g.68232770G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200159546	p.Thr234Arg	missense variant	-	NC_000016.10:g.68232770G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys237Arg	missense variant	-	NC_000016.10:g.68232762A>G	NCI-TCGA
rs771195938	p.Ser238Pro	missense variant	-	NC_000016.10:g.68232716A>G	ExAC,gnomAD
rs747332204	p.Ser240Thr	missense variant	-	NC_000016.10:g.68232709C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser240Asn	missense variant	-	NC_000016.10:g.68232709C>T	NCI-TCGA
rs1201806793	p.Thr241Ile	missense variant	-	NC_000016.10:g.68232706G>A	gnomAD
NCI-TCGA novel	p.Val242Glu	missense variant	-	NC_000016.10:g.68232703A>T	NCI-TCGA
rs375710610	p.Pro243Ser	missense variant	-	NC_000016.10:g.68232701G>A	ESP,TOPMed
rs557608066	p.Pro243Leu	missense variant	-	NC_000016.10:g.68232700G>A	1000Genomes
rs545442165	p.Cys244Tyr	missense variant	-	NC_000016.10:g.68232697C>T	1000Genomes,ExAC,TOPMed
rs553313524	p.Pro245Thr	missense variant	-	NC_000016.10:g.68232695G>T	1000Genomes,ExAC,gnomAD
rs1025909942	p.Ser247Cys	missense variant	-	NC_000016.10:g.68232689T>A	TOPMed
rs1439491631	p.Ser247Arg	missense variant	-	NC_000016.10:g.68232687G>T	gnomAD
rs145203951	p.Ser248Asn	missense variant	-	NC_000016.10:g.68232685C>T	ESP,ExAC,TOPMed,gnomAD
rs1428422396	p.Val252Ala	missense variant	-	NC_000016.10:g.68232673A>G	TOPMed
rs1202499985	p.Glu256Lys	missense variant	-	NC_000016.10:g.68232662C>T	gnomAD
rs1005464993	p.Val259Leu	missense variant	-	NC_000016.10:g.68232653C>G	TOPMed
rs755729355	p.Arg260Gln	missense variant	-	NC_000016.10:g.68232649C>T	ExAC,TOPMed,gnomAD
rs367985814	p.Arg260Trp	missense variant	-	NC_000016.10:g.68232650G>A	ESP,ExAC,TOPMed,gnomAD
rs750177300	p.Ala261Val	missense variant	-	NC_000016.10:g.68232646G>A	ExAC,gnomAD
rs35234073	p.Arg262His	missense variant	-	NC_000016.10:g.68232643C>T	ExAC,TOPMed,gnomAD
rs35234073	p.Arg262Leu	missense variant	-	NC_000016.10:g.68232643C>A	ExAC,TOPMed,gnomAD
rs35234073	p.Arg262Pro	missense variant	-	NC_000016.10:g.68232643C>G	ExAC,TOPMed,gnomAD
rs759674670	p.Leu264Val	missense variant	-	NC_000016.10:g.68232638A>C	ExAC,TOPMed,gnomAD
rs776695697	p.Pro265Leu	missense variant	-	NC_000016.10:g.68232634G>A	ExAC,TOPMed,gnomAD
rs1178570209	p.Trp266Ter	stop gained	-	NC_000016.10:g.68232631C>T	gnomAD
rs1415228587	p.Ser268Ala	missense variant	-	NC_000016.10:g.68232626A>C	gnomAD
rs370687734	p.Ser269Leu	missense variant	-	NC_000016.10:g.68232622G>A	ESP,TOPMed
rs1407069822	p.Asp270Ala	missense variant	-	NC_000016.10:g.68232619T>G	gnomAD
rs149976604	p.Gln271Arg	missense variant	-	NC_000016.10:g.68232616T>C	ESP,ExAC
rs1329079887	p.Gln271His	missense variant	-	NC_000016.10:g.68232615C>G	TOPMed
rs773583262	p.Val273Met	missense variant	-	NC_000016.10:g.68232611C>T	ExAC,gnomAD
rs200139644	p.Arg275Cys	missense variant	-	NC_000016.10:g.68232605G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748645452	p.Arg275Pro	missense variant	-	NC_000016.10:g.68232604C>G	ExAC,TOPMed,gnomAD
rs748645452	p.Arg275His	missense variant	-	NC_000016.10:g.68232604C>T	ExAC,TOPMed,gnomAD
rs779622057	p.Lys278Gln	missense variant	-	NC_000016.10:g.68232596T>G	ExAC,TOPMed,gnomAD
rs779622057	p.Lys278Glu	missense variant	-	NC_000016.10:g.68232596T>C	ExAC,TOPMed,gnomAD
rs1218954005	p.Gly279Val	missense variant	-	NC_000016.10:g.68232592C>A	TOPMed
rs754535077	p.Asn281Lys	missense variant	-	NC_000016.10:g.68232585G>C	ExAC,gnomAD
rs1244410963	p.Asn281Ser	missense variant	-	NC_000016.10:g.68232586T>C	gnomAD
rs748744010	p.Val282Met	missense variant	-	NC_000016.10:g.68232584C>T	ExAC,TOPMed,gnomAD
rs779726934	p.Ala283Val	missense variant	-	NC_000016.10:g.68232580G>A	ExAC,TOPMed,gnomAD
rs991488842	p.Arg284Ser	missense variant	-	NC_000016.10:g.68232503C>A	TOPMed,gnomAD
COSM435569	p.Ala288Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68232492G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu289Phe	missense variant	-	NC_000016.10:g.68232490G>A	NCI-TCGA
rs139310835	p.Leu291Phe	missense variant	-	NC_000016.10:g.68232484G>A	ESP,ExAC,TOPMed,gnomAD
rs139310835	p.Leu291Ile	missense variant	-	NC_000016.10:g.68232484G>T	ESP,ExAC,TOPMed,gnomAD
rs139310835	p.Leu291Val	missense variant	-	NC_000016.10:g.68232484G>C	ESP,ExAC,TOPMed,gnomAD
rs867849364	p.Ala293Thr	missense variant	-	NC_000016.10:g.68232478C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln294Leu	missense variant	-	NC_000016.10:g.68232474T>A	NCI-TCGA
rs758291204	p.Arg296Cys	missense variant	-	NC_000016.10:g.68232469G>A	ExAC,gnomAD
rs146812395	p.Arg296His	missense variant	-	NC_000016.10:g.68232468C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Arg296Ser	missense variant	-	NC_000016.10:g.68232469G>T	NCI-TCGA
rs529383734	p.Glu300Asp	missense variant	-	NC_000016.10:g.68232455C>A	1000Genomes,ExAC,gnomAD
rs750654094	p.Glu300Lys	missense variant	-	NC_000016.10:g.68232457C>T	ExAC,TOPMed,gnomAD
rs762143220	p.Ala301Val	missense variant	-	NC_000016.10:g.68232453G>A	ExAC,gnomAD
rs774810443	p.Leu302Phe	missense variant	-	NC_000016.10:g.68232451G>A	ExAC,gnomAD
rs763528773	p.Arg304His	missense variant	-	NC_000016.10:g.68232444C>T	ExAC,TOPMed,gnomAD
rs769177063	p.Arg304Cys	missense variant	-	NC_000016.10:g.68232445G>A	ExAC,TOPMed,gnomAD
rs1467516222	p.Val306Gly	missense variant	-	NC_000016.10:g.68232438A>C	TOPMed
rs775916225	p.Asp307Glu	missense variant	-	NC_000016.10:g.68232434G>C	ExAC,TOPMed,gnomAD
rs769339536	p.Ser308Gly	missense variant	-	NC_000016.10:g.68232433T>C	ExAC,gnomAD
rs745305625	p.Ser308Ile	missense variant	-	NC_000016.10:g.68232432C>A	ExAC,TOPMed,gnomAD
rs745305625	p.Ser308Thr	missense variant	-	NC_000016.10:g.68232432C>G	ExAC,TOPMed,gnomAD
rs140297966	p.Glu309Lys	missense variant	-	NC_000016.10:g.68232430C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1307044181	p.Arg311Trp	missense variant	-	NC_000016.10:g.68232424G>A	gnomAD
rs746694490	p.Arg311Gln	missense variant	-	NC_000016.10:g.68232423C>T	ExAC,TOPMed
rs1432932954	p.Asp312Asn	missense variant	-	NC_000016.10:g.68232421C>T	TOPMed,gnomAD
COSM4941316	p.Asp312Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68232419G>T	NCI-TCGA Cosmic
rs371060384	p.Ala314Val	missense variant	-	NC_000016.10:g.68232414G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Gln316Ter	stop gained	-	NC_000016.10:g.68232409G>A	NCI-TCGA
rs1341373289	p.Arg317Thr	missense variant	-	NC_000016.10:g.68232405C>G	gnomAD
rs1369400665	p.His318Gln	missense variant	-	NC_000016.10:g.68232401G>T	gnomAD
rs1402905015	p.His318Leu	missense variant	-	NC_000016.10:g.68232402T>A	TOPMed,gnomAD
rs1402905015	p.His318Pro	missense variant	-	NC_000016.10:g.68232402T>G	TOPMed,gnomAD
rs778783915	p.His321Pro	missense variant	-	NC_000016.10:g.68232393T>G	ExAC,gnomAD
rs372602619	p.His321Tyr	missense variant	-	NC_000016.10:g.68232394G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His321Arg	inframe deletion	-	NC_000016.10:g.68232388_68232393CCATGT>-	NCI-TCGA
rs370503768	p.Met322Val	missense variant	-	NC_000016.10:g.68232391T>C	ESP,ExAC,TOPMed,gnomAD
rs1233166891	p.Gly323Arg	missense variant	-	NC_000016.10:g.68232388C>G	TOPMed
rs376455570	p.Val324Ile	missense variant	-	NC_000016.10:g.68232385C>T	ESP,ExAC,TOPMed,gnomAD
rs757516890	p.Arg325Cys	missense variant	-	NC_000016.10:g.68232382G>A	ExAC,gnomAD
rs751873605	p.Arg325His	missense variant	-	NC_000016.10:g.68232381C>T	ExAC,TOPMed,gnomAD
rs764538202	p.Glu328Lys	missense variant	-	NC_000016.10:g.68232373C>T	ExAC,gnomAD
rs764341852	p.Val329Met	missense variant	-	NC_000016.10:g.68232288C>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr330Ser	missense variant	-	NC_000016.10:g.68232284T>G	NCI-TCGA
rs758655932	p.Lys331Asn	missense variant	-	NC_000016.10:g.68232280T>A	ExAC,gnomAD
rs752955291	p.Ala332Val	missense variant	-	NC_000016.10:g.68232278G>A	ExAC,gnomAD
rs140116898	p.Thr333Ile	missense variant	-	NC_000016.10:g.68232275G>A	ESP,ExAC,TOPMed,gnomAD
rs759927611	p.Gly334Arg	missense variant	-	NC_000016.10:g.68232273C>G	ExAC,gnomAD
rs1342927639	p.Gly334Ala	missense variant	-	NC_000016.10:g.68232272C>G	TOPMed
rs765862714	p.Glu335Lys	missense variant	-	NC_000016.10:g.68232270C>T	ExAC,gnomAD
rs760246952	p.Glu335Val	missense variant	-	NC_000016.10:g.68232269T>A	ExAC,gnomAD
rs765862714	p.Glu335Gln	missense variant	-	NC_000016.10:g.68232270C>G	ExAC,gnomAD
rs1287881289	p.Glu336Val	missense variant	-	NC_000016.10:g.68232266T>A	TOPMed,gnomAD
rs1287881289	p.Glu336Gly	missense variant	-	NC_000016.10:g.68232266T>C	TOPMed,gnomAD
COSM1302160	p.Glu336Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68232267C>G	NCI-TCGA Cosmic
rs1453523310	p.Phe337Leu	missense variant	-	NC_000016.10:g.68232262A>T	gnomAD
rs1161014654	p.Lys339Asn	missense variant	-	NC_000016.10:g.68232256C>A	gnomAD
rs375177301	p.Lys339Met	missense variant	-	NC_000016.10:g.68232257T>A	ESP,ExAC,TOPMed,gnomAD
rs375177301	p.Lys339Arg	missense variant	-	NC_000016.10:g.68232257T>C	ESP,ExAC,TOPMed,gnomAD
rs146163286	p.Ile340Thr	missense variant	-	NC_000016.10:g.68232254A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile340Val	missense variant	-	NC_000016.10:g.68232255T>C	NCI-TCGA
rs1384750837	p.Ala341Gly	missense variant	-	NC_000016.10:g.68232251G>C	gnomAD
rs747861789	p.Gly342Glu	missense variant	-	NC_000016.10:g.68232248C>T	ExAC,gnomAD
rs747861789	p.Gly342Ala	missense variant	-	NC_000016.10:g.68232248C>G	ExAC,gnomAD
rs773981208	p.Gly343Ser	missense variant	-	NC_000016.10:g.68232246C>T	ExAC,gnomAD
rs773981208	p.Gly343Cys	missense variant	-	NC_000016.10:g.68232246C>A	ExAC,gnomAD
rs769802129	p.Thr344Ile	missense variant	-	NC_000016.10:g.68232100G>A	ExAC,gnomAD
rs1330838328	p.Glu347Lys	missense variant	-	NC_000016.10:g.68232092C>T	TOPMed,gnomAD
rs777968585	p.Ala349Val	missense variant	-	NC_000016.10:g.68232085G>A	ExAC,gnomAD
rs772241122	p.Arg350His	missense variant	-	NC_000016.10:g.68232082C>T	ExAC,gnomAD
COSM3511191	p.Arg350Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68232082C>G	NCI-TCGA Cosmic
rs779263735	p.Ser353Thr	missense variant	-	NC_000016.10:g.68232074A>T	ExAC,gnomAD
rs755162828	p.Arg354Trp	missense variant	-	NC_000016.10:g.68232071G>A	ExAC,TOPMed,gnomAD
rs1033623250	p.Arg354Gln	missense variant	-	NC_000016.10:g.68232070C>T	gnomAD
rs754144961	p.Glu355Lys	missense variant	-	NC_000016.10:g.68232068C>T	ExAC,gnomAD
rs756576950	p.Asp356Glu	missense variant	-	NC_000016.10:g.68232063G>C	ExAC,TOPMed,gnomAD
rs756576950	p.Asp356Glu	missense variant	-	NC_000016.10:g.68232063G>T	ExAC,TOPMed,gnomAD
rs1247073408	p.Gln357Leu	missense variant	-	NC_000016.10:g.68232061T>A	TOPMed
rs1200995348	p.Val358Met	missense variant	-	NC_000016.10:g.68232059C>T	gnomAD
rs1386190729	p.Val358Ala	missense variant	-	NC_000016.10:g.68232058A>G	TOPMed,gnomAD
rs186017472	p.Arg361Gln	missense variant	-	NC_000016.10:g.68232049C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750972402	p.Arg361Trp	missense variant	-	NC_000016.10:g.68232050G>A	ExAC,TOPMed,gnomAD
rs1319335915	p.Arg363Trp	missense variant	-	NC_000016.10:g.68232044G>A	gnomAD
rs201908706	p.Arg363Gln	missense variant	-	NC_000016.10:g.68232043C>T	ESP,ExAC,TOPMed,gnomAD
rs763741902	p.Ser368Leu	missense variant	-	NC_000016.10:g.68232028G>A	ExAC,TOPMed,gnomAD
rs769751021	p.Thr372Met	missense variant	-	NC_000016.10:g.68232016G>A	ExAC,TOPMed,gnomAD
rs769751021	p.Thr372Lys	missense variant	-	NC_000016.10:g.68232016G>T	ExAC,TOPMed,gnomAD
rs148578202	p.Asp373Glu	missense variant	-	NC_000016.10:g.68232012G>T	ESP,ExAC,TOPMed,gnomAD
rs776765965	p.Asp373Asn	missense variant	-	NC_000016.10:g.68232014C>T	ExAC,gnomAD
rs748194320	p.Val374Met	missense variant	-	NC_000016.10:g.68232011C>T	ExAC,TOPMed,gnomAD
rs537285679	p.Pro380Thr	missense variant	-	NC_000016.10:g.68231993G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs570270415	p.Pro380Gln	missense variant	-	NC_000016.10:g.68231992G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs149234558	p.Cys382Gly	missense variant	-	NC_000016.10:g.68231987A>C	ESP,ExAC,TOPMed,gnomAD
rs149234558	p.Cys382Ser	missense variant	-	NC_000016.10:g.68231987A>T	ESP,ExAC,TOPMed,gnomAD
rs751027219	p.Gly386Ala	missense variant	-	NC_000016.10:g.68231974C>G	ExAC,TOPMed,gnomAD
rs763539855	p.Gly387Ala	missense variant	-	NC_000016.10:g.68231971C>G	ExAC,gnomAD
rs540156390	p.Glu389Lys	missense variant	-	NC_000016.10:g.68231966C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu392Arg	missense variant	-	NC_000016.10:g.68231956A>C	NCI-TCGA
rs752446082	p.Arg395Cys	missense variant	-	NC_000016.10:g.68231948G>A	ExAC,TOPMed,gnomAD
rs765108665	p.Arg395His	missense variant	-	NC_000016.10:g.68231947C>T	ExAC,TOPMed,gnomAD
rs765108665	p.Arg395Leu	missense variant	-	NC_000016.10:g.68231947C>A	ExAC,TOPMed,gnomAD
rs199619918	p.Gly399Val	missense variant	-	NC_000016.10:g.68231935C>A	gnomAD
rs934245575	p.Arg400Trp	missense variant	-	NC_000016.10:g.68231933G>A	TOPMed,gnomAD
rs776296719	p.Arg400Gln	missense variant	-	NC_000016.10:g.68231932C>T	ExAC,TOPMed,gnomAD
rs1447308697	p.Pro401Leu	missense variant	-	NC_000016.10:g.68231929G>A	gnomAD
rs1193303164	p.Ala405Gly	missense variant	-	NC_000016.10:g.68231917G>C	gnomAD
rs894939916	p.Phe406Leu	missense variant	-	NC_000016.10:g.68231915A>G	TOPMed
rs774450234	p.Ala407Thr	missense variant	-	NC_000016.10:g.68231912C>T	ExAC,gnomAD
rs371881233	p.Phe409Ser	missense variant	-	NC_000016.10:g.68231905A>G	ESP,ExAC,TOPMed,gnomAD
rs1359639654	p.Phe409Leu	missense variant	-	NC_000016.10:g.68231906A>G	gnomAD
rs1447077824	p.Glu413Lys	missense variant	-	NC_000016.10:g.68231894C>T	TOPMed
rs749493606	p.Ala417Thr	missense variant	-	NC_000016.10:g.68231882C>T	ExAC,gnomAD
rs547507047	p.Arg420His	missense variant	-	NC_000016.10:g.68231872C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201685431	p.Arg420Cys	missense variant	-	NC_000016.10:g.68231873G>A	ESP,ExAC,TOPMed,gnomAD
rs547507047	p.Arg420Leu	missense variant	-	NC_000016.10:g.68231872C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201685431	p.Arg420Ser	missense variant	-	NC_000016.10:g.68231873G>T	ESP,ExAC,TOPMed,gnomAD
rs374327564	p.Arg421Lys	missense variant	-	NC_000016.10:g.68231869C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys423Arg	missense variant	-	NC_000016.10:g.68231863T>C	NCI-TCGA
rs757738856	p.Gly424Ser	missense variant	-	NC_000016.10:g.68231861C>T	ExAC,TOPMed,gnomAD
rs138767086	p.Met425Arg	missense variant	-	NC_000016.10:g.68231857A>C	ESP,ExAC,gnomAD
rs1215157210	p.Met425Val	missense variant	-	NC_000016.10:g.68231858T>C	gnomAD
rs1310547940	p.Leu426Pro	missense variant	-	NC_000016.10:g.68231854A>G	gnomAD
rs1227843650	p.Gly427Val	missense variant	-	NC_000016.10:g.68231851C>A	gnomAD
rs1048412808	p.Lys428Arg	missense variant	-	NC_000016.10:g.68231848T>C	TOPMed
NCI-TCGA novel	p.Arg429Ter	stop gained	-	NC_000016.10:g.68231846G>A	NCI-TCGA
rs1448991657	p.Ile431Val	missense variant	-	NC_000016.10:g.68231840T>C	gnomAD
rs764914525	p.Ile431Thr	missense variant	-	NC_000016.10:g.68231839A>G	ExAC,TOPMed,gnomAD
rs1296106995	p.Phe434Leu	missense variant	-	NC_000016.10:g.68231829G>T	gnomAD
rs145868265	p.Arg435Gln	missense variant	-	NC_000016.10:g.68231827C>T	ESP,ExAC,TOPMed,gnomAD
rs1421230974	p.Arg435Gly	missense variant	-	NC_000016.10:g.68231828G>C	TOPMed,gnomAD
COSM4851904	p.Arg435Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231828G>A	NCI-TCGA Cosmic
rs753621550	p.Ala439Gly	missense variant	-	NC_000016.10:g.68231815G>C	ExAC,gnomAD
COSM972704	p.Ala439Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231815G>A	NCI-TCGA Cosmic
rs1477283149	p.Glu440Lys	missense variant	-	NC_000016.10:g.68231813C>T	gnomAD
rs1436266756	p.Gln442Arg	missense variant	-	NC_000016.10:g.68231806T>C	TOPMed
rs1317335012	p.Val444Ala	missense variant	-	NC_000016.10:g.68231693A>G	gnomAD
COSM1479014	p.Leu445Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231689C>G	NCI-TCGA Cosmic
rs779880380	p.Asn446Asp	missense variant	-	NC_000016.10:g.68231688T>C	ExAC,gnomAD
rs750375203	p.Arg447Leu	missense variant	-	NC_000016.10:g.68231684C>A	ExAC,TOPMed,gnomAD
rs750375203	p.Arg447His	missense variant	-	NC_000016.10:g.68231684C>T	ExAC,TOPMed,gnomAD
rs1357935683	p.Arg447Cys	missense variant	-	NC_000016.10:g.68231685G>A	TOPMed,gnomAD
rs1195823861	p.Ala449Thr	missense variant	-	NC_000016.10:g.68231679C>T	TOPMed
rs1376895984	p.Leu454Arg	missense variant	-	NC_000016.10:g.68231663A>C	TOPMed
rs1397473449	p.Leu457Pro	missense variant	-	NC_000016.10:g.68231654A>G	gnomAD
rs1332999932	p.Thr458Ala	missense variant	-	NC_000016.10:g.68231652T>C	gnomAD
rs759779188	p.Pro460Leu	missense variant	-	NC_000016.10:g.68231645G>A	ExAC,gnomAD
rs759779188	p.Pro460Gln	missense variant	-	NC_000016.10:g.68231645G>T	ExAC,gnomAD
rs771319510	p.Pro463Leu	missense variant	-	NC_000016.10:g.68231636G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile464Ser	missense variant	-	NC_000016.10:g.68231633A>C	NCI-TCGA
rs760881125	p.Pro465His	missense variant	-	NC_000016.10:g.68231630G>T	ExAC,gnomAD
rs773724907	p.Pro470Leu	missense variant	-	NC_000016.10:g.68231615G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro470His	missense variant	-	NC_000016.10:g.68231615G>T	NCI-TCGA
rs772659010	p.Gly473Ala	missense variant	-	NC_000016.10:g.68231606C>G	ExAC,TOPMed,gnomAD
rs772659010	p.Gly473Glu	missense variant	-	NC_000016.10:g.68231606C>T	ExAC,TOPMed,gnomAD
rs1200817796	p.Cys476Tyr	missense variant	-	NC_000016.10:g.68231597C>T	gnomAD
rs1236423381	p.Cys476Arg	missense variant	-	NC_000016.10:g.68231598A>G	gnomAD
rs182283545	p.Val477Ile	missense variant	-	NC_000016.10:g.68231595C>T	1000Genomes,ExAC
rs778537506	p.Arg478Cys	missense variant	-	NC_000016.10:g.68231592G>A	ExAC,gnomAD
rs778537506	p.Arg478Gly	missense variant	-	NC_000016.10:g.68231592G>C	ExAC,gnomAD
rs768101534	p.Arg478His	missense variant	-	NC_000016.10:g.68231591C>T	ExAC,TOPMed,gnomAD
rs201907734	p.Arg480Gln	missense variant	-	NC_000016.10:g.68231585C>T	1000Genomes,ExAC,gnomAD
rs1239299956	p.Arg480Ter	stop gained	-	NC_000016.10:g.68231586G>A	gnomAD
rs755800105	p.Thr485Ala	missense variant	-	NC_000016.10:g.68231571T>C	ExAC,TOPMed,gnomAD
rs780992155	p.Thr485Lys	missense variant	-	NC_000016.10:g.68231570G>T	ExAC,TOPMed,gnomAD
rs780992155	p.Thr485Met	missense variant	-	NC_000016.10:g.68231570G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala486Thr	missense variant	-	NC_000016.10:g.68231568C>T	NCI-TCGA
rs146714679	p.Ile488Thr	missense variant	-	NC_000016.10:g.68231561A>G	1000Genomes,ExAC,gnomAD
rs1488917654	p.Ser493Asn	missense variant	-	NC_000016.10:g.68231546C>T	TOPMed
rs1174887477	p.Ser493Arg	missense variant	-	NC_000016.10:g.68231545G>T	gnomAD
rs1207353876	p.Leu495Pro	missense variant	-	NC_000016.10:g.68231540A>G	TOPMed
rs146975136	p.Gly496Trp	missense variant	-	NC_000016.10:g.68231538C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146975136	p.Gly496Arg	missense variant	-	NC_000016.10:g.68231538C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753956951	p.Glu497Asp	missense variant	-	NC_000016.10:g.68231533C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu497GlyPheSerTerUnk	frameshift	-	NC_000016.10:g.68231534_68231535insC	NCI-TCGA
rs766453847	p.Ile502Val	missense variant	-	NC_000016.10:g.68231520T>C	ExAC,TOPMed,gnomAD
rs140405620	p.Arg503Leu	missense variant	-	NC_000016.10:g.68231516C>A	ESP,ExAC,TOPMed,gnomAD
rs372908528	p.Arg503Trp	missense variant	-	NC_000016.10:g.68231517G>A	ESP,ExAC,TOPMed,gnomAD
rs140405620	p.Arg503Gln	missense variant	-	NC_000016.10:g.68231516C>T	ESP,ExAC,TOPMed,gnomAD
rs1380321801	p.Pro504Ser	missense variant	-	NC_000016.10:g.68231514G>A	TOPMed
rs775059603	p.Gly506Ser	missense variant	-	NC_000016.10:g.68231508C>T	ExAC,TOPMed,gnomAD
rs1280777222	p.Gly506Val	missense variant	-	NC_000016.10:g.68231507C>A	gnomAD
rs1351440046	p.Val507Ala	missense variant	-	NC_000016.10:g.68231504A>G	gnomAD
rs768209581	p.Val507Leu	missense variant	-	NC_000016.10:g.68231505C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met509ArgPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.68231483_68231498TGCTGGTTGAGCACCA>-	NCI-TCGA
NCI-TCGA novel	p.Met509Val	missense variant	-	NC_000016.10:g.68231499T>C	NCI-TCGA
rs1287994453	p.Val510Met	missense variant	-	NC_000016.10:g.68231496C>T	gnomAD
rs748683919	p.Leu511Val	missense variant	-	NC_000016.10:g.68231493G>C	ExAC,gnomAD
rs775083128	p.Asn512His	missense variant	-	NC_000016.10:g.68231490T>G	ExAC,TOPMed,gnomAD
rs775083128	p.Asn512Asp	missense variant	-	NC_000016.10:g.68231490T>C	ExAC,TOPMed,gnomAD
rs1310204853	p.Gln514His	missense variant	-	NC_000016.10:g.68231482C>A	gnomAD
rs779561626	p.Arg516Trp	missense variant	-	NC_000016.10:g.68231373G>A	ExAC,TOPMed,gnomAD
rs745503556	p.Arg516Pro	missense variant	-	NC_000016.10:g.68231372C>G	ExAC,TOPMed,gnomAD
rs745503556	p.Arg516Gln	missense variant	-	NC_000016.10:g.68231372C>T	ExAC,TOPMed,gnomAD
rs1161550027	p.Pro517Ala	missense variant	-	NC_000016.10:g.68231370G>C	gnomAD
rs143677348	p.Ser518Leu	missense variant	-	NC_000016.10:g.68231366G>A	ESP,TOPMed,gnomAD
rs374057525	p.Asp520Asn	missense variant	-	NC_000016.10:g.68231361C>T	ESP,TOPMed,gnomAD
rs1304919139	p.Gln524Ter	stop gained	-	NC_000016.10:g.68231349G>A	TOPMed
rs746747952	p.Met525Ile	missense variant	-	NC_000016.10:g.68231344C>T	ExAC,gnomAD
rs777644960	p.Thr526Ser	missense variant	-	NC_000016.10:g.68231343T>A	ExAC,gnomAD
COSM6079460	p.Thr526Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231342G>A	NCI-TCGA Cosmic
rs3743738	p.Ala528Val	missense variant	-	NC_000016.10:g.68231336G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756321854	p.Glu529Lys	missense variant	-	NC_000016.10:g.68231334C>T	ExAC,gnomAD
rs142168544	p.Arg530Gly	missense variant	-	NC_000016.10:g.68231331G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201090992	p.Arg530Gln	missense variant	-	NC_000016.10:g.68231330C>T	1000Genomes,ExAC,gnomAD
rs142168544	p.Arg530Ter	stop gained	-	NC_000016.10:g.68231331G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201772356	p.Ala531Thr	missense variant	-	NC_000016.10:g.68231328C>T	1000Genomes,ExAC,gnomAD
rs1333060080	p.Ala535Thr	missense variant	-	NC_000016.10:g.68231316C>T	TOPMed
rs753303292	p.Arg537Cys	missense variant	-	NC_000016.10:g.68231310G>A	ExAC,TOPMed,gnomAD
rs753303292	p.Arg537Gly	missense variant	-	NC_000016.10:g.68231310G>C	ExAC,TOPMed,gnomAD
rs1331040877	p.Arg537His	missense variant	-	NC_000016.10:g.68231309C>T	TOPMed,gnomAD
COSM972700	p.Lys540Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231301T>C	NCI-TCGA Cosmic
rs1395287028	p.Lys541Met	missense variant	-	NC_000016.10:g.68231297T>A	gnomAD
rs758979405	p.Lys541Glu	missense variant	-	NC_000016.10:g.68231298T>C	ExAC,gnomAD
rs776129901	p.Lys544Glu	missense variant	-	NC_000016.10:g.68231289T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu545Val	missense variant	-	NC_000016.10:g.68231285T>A	NCI-TCGA
COSM70648	p.Glu545Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231284C>G	NCI-TCGA Cosmic
rs146824182	p.Arg546His	missense variant	-	NC_000016.10:g.68231282C>T	ESP,ExAC,TOPMed,gnomAD
rs760351104	p.Arg546Cys	missense variant	-	NC_000016.10:g.68231283G>A	ExAC,TOPMed,gnomAD
rs148690211	p.Tyr547Ter	stop gained	-	NC_000016.10:g.68231278G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs193102233	p.Tyr547Ser	missense variant	-	NC_000016.10:g.68231279T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs570580551	p.Val548Met	missense variant	-	NC_000016.10:g.68231277C>T	1000Genomes,ExAC,gnomAD
rs1237028167	p.Glu549Ala	missense variant	-	NC_000016.10:g.68231273T>G	TOPMed,gnomAD
rs1237028167	p.Glu549Gly	missense variant	-	NC_000016.10:g.68231273T>C	TOPMed,gnomAD
rs757214739	p.Val550Met	missense variant	-	NC_000016.10:g.68231271C>T	ExAC,TOPMed,gnomAD
rs781448145	p.Cys553Gly	missense variant	-	NC_000016.10:g.68231262A>C	ExAC,TOPMed,gnomAD
rs781448145	p.Cys553Arg	missense variant	-	NC_000016.10:g.68231262A>G	ExAC,TOPMed,gnomAD
rs757518093	p.Cys553Ter	stop gained	-	NC_000016.10:g.68231260A>T	ExAC,gnomAD
rs1395794211	p.Glu556Lys	missense variant	-	NC_000016.10:g.68231253C>T	TOPMed
rs1273636636	p.Glu557Lys	missense variant	-	NC_000016.10:g.68231250C>T	TOPMed,gnomAD
rs143678917	p.Glu557Asp	missense variant	-	NC_000016.10:g.68231248C>G	ESP,ExAC,TOPMed,gnomAD
rs189249637	p.Ser559Thr	missense variant	-	NC_000016.10:g.68231243C>G	1000Genomes,ExAC,gnomAD
rs777982338	p.Ser559Gly	missense variant	-	NC_000016.10:g.68231244T>C	ExAC,gnomAD
rs753006606	p.Arg560Gln	missense variant	-	NC_000016.10:g.68231240C>T	ExAC,TOPMed,gnomAD
COSM3421104	p.Arg560Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68231241G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met563Val	missense variant	-	NC_000016.10:g.68231232T>C	NCI-TCGA
rs1413747127	p.Met563Thr	missense variant	-	NC_000016.10:g.68231231A>G	TOPMed,gnomAD
rs1174314411	p.Gly564Glu	missense variant	-	NC_000016.10:g.68231228C>T	TOPMed,gnomAD
rs1174314411	p.Gly564Ala	missense variant	-	NC_000016.10:g.68231228C>G	TOPMed,gnomAD
rs765673788	p.Gly564Arg	missense variant	-	NC_000016.10:g.68231229C>T	ExAC,TOPMed,gnomAD
rs1008336783	p.Gly565Asp	missense variant	-	NC_000016.10:g.68231225C>T	TOPMed
rs1210363962	p.Gly565Ser	missense variant	-	NC_000016.10:g.68231226C>T	gnomAD
rs760057049	p.Leu567Ser	missense variant	-	NC_000016.10:g.68231219A>G	ExAC,gnomAD
rs1212384012	p.Gly568Asp	missense variant	-	NC_000016.10:g.68231216C>T	TOPMed
rs370690332	p.Arg569Cys	missense variant	-	NC_000016.10:g.68231214G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs949284278	p.Arg569His	missense variant	-	NC_000016.10:g.68231213C>T	gnomAD
rs370690332	p.Arg569Gly	missense variant	-	NC_000016.10:g.68231214G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1186379109	p.Ser570Asn	missense variant	-	NC_000016.10:g.68231210C>T	gnomAD
COSM3818330	p.Ser570Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231211T>C	NCI-TCGA Cosmic
rs772977411	p.Met572Thr	missense variant	-	NC_000016.10:g.68231204A>G	ExAC,TOPMed,gnomAD
rs184799308	p.Ser573Phe	missense variant	-	NC_000016.10:g.68231201G>A	1000Genomes,gnomAD
rs1213388558	p.Pro575Leu	missense variant	-	NC_000016.10:g.68231195G>A	gnomAD
rs1194160642	p.Pro576Ala	missense variant	-	NC_000016.10:g.68231193G>C	TOPMed
rs1349233707	p.Pro576Arg	missense variant	-	NC_000016.10:g.68231192G>C	gnomAD
rs771762193	p.Cys577Arg	missense variant	-	NC_000016.10:g.68231190A>G	ExAC,gnomAD
rs751558791	p.Cys577Tyr	missense variant	-	NC_000016.10:g.68231189C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro585Leu	missense variant	-	NC_000016.10:g.68231015G>A	NCI-TCGA
rs1185355698	p.Thr586Ile	missense variant	-	NC_000016.10:g.68231012G>A	gnomAD
rs775632478	p.Tyr587Asn	missense variant	-	NC_000016.10:g.68231010A>T	ExAC,TOPMed,gnomAD
rs1220955655	p.Thr588Ala	missense variant	-	NC_000016.10:g.68231007T>C	gnomAD
rs145134851	p.Thr589Ser	missense variant	-	NC_000016.10:g.68231003G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1275324694	p.Gln591His	missense variant	-	NC_000016.10:g.68230996T>A	gnomAD
rs773185656	p.Ala592Thr	missense variant	-	NC_000016.10:g.68230995C>T	ExAC,gnomAD
rs1317129795	p.Ala592Asp	missense variant	-	NC_000016.10:g.68230994G>T	gnomAD
rs1046606817	p.Pro594Thr	missense variant	-	NC_000016.10:g.68230989G>T	TOPMed,gnomAD
rs772296415	p.Pro594Arg	missense variant	-	NC_000016.10:g.68230988G>C	ExAC,gnomAD
rs772296415	p.Pro594Leu	missense variant	-	NC_000016.10:g.68230988G>A	ExAC,gnomAD
rs1046606817	p.Pro594Ala	missense variant	-	NC_000016.10:g.68230989G>C	TOPMed,gnomAD
rs748358961	p.Thr595Met	missense variant	-	NC_000016.10:g.68230985G>A	ExAC,TOPMed,gnomAD
rs1292834329	p.Leu596Phe	missense variant	-	NC_000016.10:g.68230983G>A	gnomAD
rs377474438	p.Ile597Thr	missense variant	-	NC_000016.10:g.68230979A>G	ESP,ExAC,gnomAD
rs1396008948	p.Pro598Ala	missense variant	-	NC_000016.10:g.68230977G>C	gnomAD
NCI-TCGA novel	p.Pro598AspTrpAsp	insertion	-	NC_000016.10:g.68230975_68230976insTCCCAATCT	NCI-TCGA
rs755393677	p.Thr599Met	missense variant	-	NC_000016.10:g.68230973G>A	ExAC,TOPMed,gnomAD
rs556537582	p.Thr601Met	missense variant	-	NC_000016.10:g.68230967G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1251368382	p.Ala602Val	missense variant	-	NC_000016.10:g.68230964G>A	TOPMed
COSM3421102	p.Pro606Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68230953G>T	NCI-TCGA Cosmic
rs1190499966	p.Ser607Pro	missense variant	-	NC_000016.10:g.68230950A>G	gnomAD
NCI-TCGA novel	p.Ser607LeuPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.68230951G>-	NCI-TCGA
rs1254949948	p.Ser608Thr	missense variant	-	NC_000016.10:g.68230947A>T	gnomAD
NCI-TCGA novel	p.Leu610Val	missense variant	-	NC_000016.10:g.68230941G>C	NCI-TCGA
rs763972371	p.Leu611Phe	missense variant	-	NC_000016.10:g.68230938G>A	ExAC,TOPMed,gnomAD
rs1256346012	p.Pro612Ala	missense variant	-	NC_000016.10:g.68230935G>C	gnomAD
rs1206405620	p.Ala614Thr	missense variant	-	NC_000016.10:g.68230929C>T	gnomAD
rs762766253	p.Ala614Gly	missense variant	-	NC_000016.10:g.68230928G>C	ExAC,gnomAD
rs775436384	p.Pro617Ser	missense variant	-	NC_000016.10:g.68230920G>A	ExAC
rs1399418255	p.Ala619Gly	missense variant	-	NC_000016.10:g.68230913G>C	TOPMed
rs1372627466	p.Pro620Ser	missense variant	-	NC_000016.10:g.68230911G>A	gnomAD
rs1445326658	p.Thr621Ile	missense variant	-	NC_000016.10:g.68230907G>A	gnomAD
rs773310955	p.Pro622Ser	missense variant	-	NC_000016.10:g.68230905G>A	ExAC,TOPMed,gnomAD
rs36054935	p.Pro627Ser	missense variant	-	NC_000016.10:g.68230890G>A	UniProt,dbSNP
VAR_057245	p.Pro627Ser	missense variant	-	NC_000016.10:g.68230890G>A	UniProt
rs36054935	p.Pro627Ser	missense variant	-	NC_000016.10:g.68230890G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs36054935	p.Pro627Thr	missense variant	-	NC_000016.10:g.68230890G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749599581	p.Thr631Ile	missense variant	-	NC_000016.10:g.68230877G>A	ExAC,gnomAD
rs1442366614	p.Leu633Arg	missense variant	-	NC_000016.10:g.68230871A>C	TOPMed
rs965935315	p.Tyr634His	missense variant	-	NC_000016.10:g.68230869A>G	TOPMed
rs1194350974	p.Leu635Pro	missense variant	-	NC_000016.10:g.68230865A>G	gnomAD
NCI-TCGA novel	p.Asn636Lys	missense variant	-	NC_000016.10:g.68230861G>T	NCI-TCGA
rs756780323	p.Thr638Ile	missense variant	-	NC_000016.10:g.68230856G>A	ExAC,gnomAD
rs756780323	p.Thr638Lys	missense variant	-	NC_000016.10:g.68230856G>T	ExAC,gnomAD
rs1227203639	p.Tyr640His	missense variant	-	NC_000016.10:g.68230851A>G	TOPMed,gnomAD
rs751115440	p.Tyr640Ser	missense variant	-	NC_000016.10:g.68230850T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr640Ter	stop gained	-	NC_000016.10:g.68230848_68230849AG>-	NCI-TCGA
rs760582015	p.Pro645Gln	missense variant	-	NC_000016.10:g.68230549G>T	ExAC,gnomAD
rs189308373	p.Pro645Ser	missense variant	-	NC_000016.10:g.68230550G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760582015	p.Pro645Leu	missense variant	-	NC_000016.10:g.68230549G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro645GlnPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.68230549G>-	NCI-TCGA
rs1269317785	p.Val646Gly	missense variant	-	NC_000016.10:g.68230546A>C	gnomAD
NCI-TCGA novel	p.Val646SerPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.68230548_68230549insG	NCI-TCGA
rs763180619	p.Pro648Thr	missense variant	-	NC_000016.10:g.68230541G>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr649ProPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.68230539G>-	NCI-TCGA
NCI-TCGA novel	p.Thr650LeuPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.68230535_68230536insGGTGGGGGAGACTGGGGGGCTAG	NCI-TCGA
rs1452097892	p.Leu654Phe	missense variant	-	NC_000016.10:g.68230523G>A	TOPMed
rs1192939507	p.Thr655Ile	missense variant	-	NC_000016.10:g.68230519G>A	gnomAD
rs775513480	p.Pro657Ala	missense variant	-	NC_000016.10:g.68230514G>C	ExAC,gnomAD
rs375345290	p.Ala660Thr	missense variant	-	NC_000016.10:g.68230505C>T	ESP,gnomAD
rs1270941523	p.Ala662Val	missense variant	-	NC_000016.10:g.68230498G>A	gnomAD
rs1025619576	p.Ala662Thr	missense variant	-	NC_000016.10:g.68230499C>T	gnomAD
rs1025619576	p.Ala662Ser	missense variant	-	NC_000016.10:g.68230499C>A	gnomAD
rs904868556	p.Ser663Cys	missense variant	-	NC_000016.10:g.68230495G>C	TOPMed
rs759878710	p.Ala664Val	missense variant	-	NC_000016.10:g.68230492G>A	ExAC,gnomAD
rs777034822	p.Thr666Asn	missense variant	-	NC_000016.10:g.68230486G>T	ExAC,TOPMed,gnomAD
rs777449153	p.Gly673Glu	missense variant	-	NC_000016.10:g.68230465C>T	ExAC,gnomAD
rs747807167	p.Ala674Thr	missense variant	-	NC_000016.10:g.68230463C>T	ExAC,gnomAD
rs373594090	p.Leu675Ter	stop gained	-	NC_000016.10:g.68230459A>T	ESP,ExAC,TOPMed,gnomAD
rs373594090	p.Leu675Trp	missense variant	-	NC_000016.10:g.68230459A>C	ESP,ExAC,TOPMed,gnomAD
rs547646233	p.Val676Ile	missense variant	-	NC_000016.10:g.68230457C>T	TOPMed
rs150902510	p.Arg677His	missense variant	-	NC_000016.10:g.68230453C>T	ESP,ExAC,TOPMed,gnomAD
rs575114143	p.Arg677Cys	missense variant	-	NC_000016.10:g.68230454G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1474273790	p.Met678Ile	missense variant	-	NC_000016.10:g.68230449C>T	gnomAD
rs756074117	p.Met678Thr	missense variant	-	NC_000016.10:g.68230450A>G	ExAC,gnomAD
COSM6144907	p.Gly680Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68230445C>G	NCI-TCGA Cosmic
rs750308853	p.Val681Phe	missense variant	-	NC_000016.10:g.68230442C>A	ExAC,gnomAD
rs1286848865	p.Pro682Gln	missense variant	-	NC_000016.10:g.68230438G>T	TOPMed
rs556420688	p.Pro682Ser	missense variant	-	NC_000016.10:g.68230439G>A	1000Genomes,ExAC,gnomAD
COSM3818328	p.Pro682Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68230438G>C	NCI-TCGA Cosmic
rs1432155640	p.Tyr683His	missense variant	-	NC_000016.10:g.68230436A>G	TOPMed,gnomAD
rs758545181	p.Thr684Ala	missense variant	-	NC_000016.10:g.68230433T>C	ExAC,gnomAD
rs752812867	p.Thr684Met	missense variant	-	NC_000016.10:g.68230432G>A	ExAC,gnomAD
rs71393986	p.Ala685Val	missense variant	-	NC_000016.10:g.68230429G>A	gnomAD
rs71393986	p.Ala685Gly	missense variant	-	NC_000016.10:g.68230429G>C	gnomAD
COSM1302158	p.Ala685Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68230430C>G	NCI-TCGA Cosmic
rs1256977216	p.Gly686Ser	missense variant	-	NC_000016.10:g.68230427C>T	gnomAD
rs759775372	p.Gly686Val	missense variant	-	NC_000016.10:g.68230426C>A	ExAC,gnomAD
rs1272478216	p.Met687Leu	missense variant	-	NC_000016.10:g.68230424T>A	gnomAD
rs766802916	p.Met687Thr	missense variant	-	NC_000016.10:g.68230423A>G	ExAC,gnomAD
rs1370427686	p.Lys688Arg	missense variant	-	NC_000016.10:g.68230420T>C	gnomAD
rs761278650	p.Leu691Phe	missense variant	-	NC_000016.10:g.68230412G>A	ExAC,gnomAD
rs773887741	p.Val693Ala	missense variant	-	NC_000016.10:g.68230405A>G	ExAC,gnomAD
rs200344265	p.Val693Ile	missense variant	-	NC_000016.10:g.68230406C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768230534	p.Tyr697His	missense variant	-	NC_000016.10:g.68230394A>G	ExAC,gnomAD
rs35355998	p.Ala701Thr	missense variant	-	NC_000016.10:g.68230309C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35355998	p.Ala701Pro	missense variant	-	NC_000016.10:g.68230309C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62637560	p.Asp702His	missense variant	-	NC_000016.10:g.68230306C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780936867	p.Thr705Asn	missense variant	-	NC_000016.10:g.68230296G>T	ExAC,TOPMed,gnomAD
rs780936867	p.Thr705Ile	missense variant	-	NC_000016.10:g.68230296G>A	ExAC,TOPMed,gnomAD
rs1251038609	p.Ser706Gly	missense variant	-	NC_000016.10:g.68230294T>C	TOPMed
COSM4062089	p.Leu707Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68230291G>C	NCI-TCGA Cosmic
rs1183009362	p.Gly711Asp	missense variant	-	NC_000016.10:g.68230278C>T	TOPMed,gnomAD
rs770807727	p.Asp712Gly	missense variant	-	NC_000016.10:g.68230275T>C	ExAC,gnomAD
rs569178519	p.Arg715Cys	missense variant	-	NC_000016.10:g.68230267G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs371553582	p.Arg715Pro	missense variant	-	NC_000016.10:g.68230266C>G	ESP,ExAC,TOPMed,gnomAD
rs371553582	p.Arg715Leu	missense variant	-	NC_000016.10:g.68230266C>A	ESP,ExAC,TOPMed,gnomAD
rs371553582	p.Arg715His	missense variant	-	NC_000016.10:g.68230266C>T	ESP,ExAC,TOPMed,gnomAD
rs1283660560	p.Gln719Ter	stop gained	-	NC_000016.10:g.68230255G>A	gnomAD
rs377274422	p.Ala720Thr	missense variant	-	NC_000016.10:g.68230252C>T	ESP,ExAC,TOPMed,gnomAD
rs374092654	p.Ala720Gly	missense variant	-	NC_000016.10:g.68230251G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374092654	p.Ala720Val	missense variant	-	NC_000016.10:g.68230251G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377274422	p.Ala720Pro	missense variant	-	NC_000016.10:g.68230252C>G	ESP,ExAC,TOPMed,gnomAD
rs756381379	p.Pro721Arg	missense variant	-	NC_000016.10:g.68230248G>C	ExAC,TOPMed,gnomAD
rs1002896533	p.Pro721Ser	missense variant	-	NC_000016.10:g.68230249G>A	TOPMed,gnomAD
rs750857196	p.Glu723Lys	missense variant	-	NC_000016.10:g.68230243C>T	ExAC,gnomAD
rs1471417188	p.Trp724Ter	stop gained	-	NC_000016.10:g.68230238C>T	gnomAD
rs1415318234	p.Cys726Ser	missense variant	-	NC_000016.10:g.68230234A>T	gnomAD
rs1415318234	p.Cys726Arg	missense variant	-	NC_000016.10:g.68230234A>G	gnomAD
NCI-TCGA novel	p.Cys726Trp	missense variant	-	NC_000016.10:g.68230232A>C	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003723	RNA binding	HDA
GO:0003729	mRNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000380	alternative mRNA splicing, via spliceosome	IEA
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS
GO:0043484	regulation of RNA splicing	IDA
GO:0050679	positive regulation of epithelial cell proliferation	IEA
GO:0060441	epithelial tube branching involved in lung morphogenesis	IEA
GO:0060445	branching involved in salivary gland morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-190236	Signaling by FGFR	TAS
R-HSA-5654738	Signaling by FGFR2	TAS
R-HSA-6803529	FGFR2 alternative splicing	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of ESRP2 mRNA	19114083
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of ESRP2 mRNA	21346803
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of ESRP2 mRNA	19150397
D000082	Acetaminophen	Acetaminophen results in decreased expression of ESRP2 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of ESRP2 mRNA	17562736
D020106	Acrylamide	Acrylamide results in increased expression of ESRP2 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of ESRP2 protein	20106945
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of ESRP2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of ESRP2 mRNA	29027980
C006780	bisphenol A	bisphenol A results in decreased expression of ESRP2 mRNA	26063408
C006780	bisphenol A	bisphenol A results in decreased expression of ESRP2 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of ESRP2 mRNA	30951980
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of ESRP2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of ESRP2 mRNA	27392435
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of ESRP2 mRNA	20971185
D016572	Cyclosporine	Cyclosporine results in decreased expression of ESRP2 mRNA	20106945
C000944	dicrotophos	dicrotophos results in increased expression of ESRP2 mRNA	28302478
D004147	Dioxins	Dioxins affects the expression of ESRP2 mRNA	20463971
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C118739	entinostat	entinostat results in increased expression of ESRP2 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of ESRP2 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of ESRP2 mRNA	19484750
D017313	Fenretinide	Fenretinide results in increased expression of ESRP2 mRNA	28973697
D005485	Flutamide	Flutamide results in decreased expression of ESRP2 mRNA	24793618
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of ESRP2 mRNA	25613284
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of ESRP2 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of ESRP2 mRNA	26644586
D019344	Lactic Acid	Lactic Acid results in decreased expression of ESRP2 mRNA	30851411
C008261	lead acetate	lead acetate results in increased expression of ESRP2 mRNA	22609695
C042720	mercuric bromide	mercuric bromide results in increased expression of ESRP2 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of ESRP2 mRNA	25554681
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of ESRP2 mRNA	20971185
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of ESRP2 mRNA	26272509
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of ESRP2 mRNA	26272509
D012643	Selenium	[Selenium co-treated with Vitamin E] results in increased expression of ESRP2 mRNA	19244175
D012906	Smoke	Smoke results in decreased expression of ESRP2 mRNA	21095227
C017947	sodium arsenite	sodium arsenite results in decreased expression of ESRP2 mRNA	29361514
D013605	T-2 Toxin	T-2 Toxin results in increased expression of ESRP2 mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to ESRP2 promoter]	19654925
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of ESRP2 mRNA	25613284
C009495	titanium dioxide	titanium dioxide results in increased expression of ESRP2 mRNA	23557971
D014212	Tretinoin	Tretinoin results in increased expression of ESRP2 mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of ESRP2 mRNA	24935251; 26272509;
D000077288	Troglitazone	Troglitazone results in decreased expression of ESRP2 mRNA	28973697
D014520	Urethane	Urethane results in decreased expression of ESRP2 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ESRP2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of ESRP2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of ESRP2 mRNA	23179753; 23527032; 24383497; 26272509;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of ESRP2 gene	25560391
D014810	Vitamin E	[Selenium co-treated with Vitamin E] results in increased expression of ESRP2 mRNA	19244175
D014810	Vitamin E	Vitamin E results in decreased expression of ESRP2 mRNA	19244175
D024483	Vitamin K 3	Vitamin K 3 affects the expression of ESRP2 mRNA	20044591
D019287	Zinc Sulfate	Zinc Sulfate results in increased expression of ESRP2 mRNA	27504894

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0507	mRNA processing
KW-0508	mRNA splicing
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0694	RNA-binding

Interpro

InterPro ID	InterPro Term
IPR034431	ESRP2
IPR012677	Nucleotide-bd_a/b_plait_sf
IPR035979	RBD_domain_sf
IPR012337	RNaseH-like_sf
IPR036397	RNaseH_sf
IPR000504	RRM_dom

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: ESRP2

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