CleftGeneDB-Search

Gene: AKAP8

Basic information

Tag	Content
Uniprot ID	O43823
Entrez ID	10270
Genbank protein ID	CAA72722.1; AAC62838.1;
Genbank nucleotide ID	NM_005858.3
Ensembl protein ID	ENSP00000269701
Ensembl nucleotide ID	ENSG00000105127
Gene name	A-kinase anchor protein 8
Gene symbol	AKAP8
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Anchoring protein that mediates the subcellular compartmentation of cAMP-dependent protein kinase (PKA type II) (PubMed:9473338). Acts as an anchor for a PKA-signaling complex onto mitotic chromosomes, which is required for maintenance of chromosomes in a condensed form throughout mitosis. Recruits condensin complex subunit NCAPD2 to chromosomes required for chromatin condensation; the function appears to be independent from PKA-anchoring (PubMed:10601332, PubMed:10791967, PubMed:11964380). May help to deliver cyclin D/E to CDK4 to facilitate cell cycle progression (PubMed:14641107). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function may act redundantly with AKAP8L (PubMed:16980585). Involved in nuclear retention of RPS6KA1 upon ERK activation thus inducing cell proliferation (PubMed:22130794). May be involved in regulation of DNA replication by acting as scaffold for MCM2 (PubMed:12740381). Enhances HMT activity of the KMT2 family MLL4/WBP7 complex and is involved in transcriptional regulation. In a teratocarcinoma cell line is involved in retinoic acid-mediated induction of developmental genes implicating H3 'Lys-4' methylation (PubMed:23995757). May be involved in recruitment of active CASP3 to the nucleus in apoptotic cells (PubMed:16227597). May act as a carrier protein of GJA1 for its transport to the nucleus (PubMed:26880274). Seems to involved in modulation of rDNA transcription. Preferentially binds GC-rich DNA in vitro and associates to GC-rich ribosomal RNA promoters (PubMed:26683827). Involved in modulation of Toll-like receptor signaling. Required for the cAMP-dependent suppression of TNF-alpha in early stages of LPS-induced macrophage activation; the function probably implicates targeting of PKA to NFKB1 (By similarity).
Sequence	MDQGYGGYGA WSAGPANTQG AYGTGVASWQ GYENYNYYGA QNTSVTTGAT YSYGPASWEA 60 AKANDGGLAA GAPAMHMASY GPEPCTDNSD SLIAKINQRL DMMSKEGGRG GSGGGGEGIQ 120 DRESSFRFQP FESYDSRPCL PEHNPYRPSY SYDYEFDLGS DRNGSFGGQY SECRDPARER 180 GSLDGFMRGR GQGRFQDRSN PGTFMRSDPF VPPAASSEPL STPWNELNYV GGRGLGGPSP 240 SRPPPSLFSQ SMAPDYGVMG MQGAGGYDST MPYGCGRSQP RMRDRDRPKR RGFDRFGPDG 300 TGRKRKQFQL YEEPDTKLAR VDSEGDFSEN DDAAGDFRSG DEEFKGEDEL CDSGRQRGEK 360 EDEDEDVKKR REKQRRRDRT RDRAADRIQF ACSVCKFRSF DDEEIQKHLQ SKFHKETLRF 420 ISTKLPDKTV EFLQEYIVNR NKKIEKRRQE LMEKETAKPK PDPFKGIGQE HFFKKIEAAH 480 CLACDMLIPA QPQLLQRHLH SVDHNHNRRL AAEQFKKTSL HVAKSVLNNR HIVKMLEKYL 540 KGEDPFTSET VDPEMEGDDN LGGEDKKETP EEVAADVLAE VITAAVRAVD GEGAPAPESS 600 GEPAEDEGPT DTAEAGSDPQ AEQLLEEQVP CGTAHEKGVP KARSEAAEAG NGAETMAAEA 660 ESAQTRVAPA PAAADAEVEQ TDAESKDAVP TE 692

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	AKAP8		A0A3Q1M9C8			Bos taurus	Prediction	More>>
1:1 ortholog	AKAP8		A0A452DXJ3			Capra hircus	Prediction	More>>
1:1 ortholog	AKAP8	10270	O43823			Homo sapiens	Prediction	More>>
1:1 ortholog	Akap8	56399	Q9DBR0	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	AKAP8	748028	K7D8I9			Pan troglodytes	Prediction	More>>
1:1 ortholog	Akap8	116633	Q63014			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs747362693	p.Asp2Tyr	missense variant	-	NC_000019.10:g.15379728C>A	ExAC,gnomAD
rs778290852	p.Asp2Glu	missense variant	-	NC_000019.10:g.15379726G>T	ExAC,gnomAD
rs1410893474	p.Gln3Ter	stop gained	-	NC_000019.10:g.15379725G>A	gnomAD
rs776280853	p.Gly4Cys	missense variant	-	NC_000019.10:g.15379722C>A	ExAC,TOPMed,gnomAD
rs1372740114	p.Gly6Glu	missense variant	-	NC_000019.10:g.15379715C>T	TOPMed
rs1416686206	p.Gly6Arg	missense variant	-	NC_000019.10:g.15379716C>T	gnomAD
rs780466979	p.Ala10Thr	missense variant	-	NC_000019.10:g.15377006C>T	ExAC,gnomAD
rs755984203	p.Ala10Val	missense variant	-	NC_000019.10:g.15377005G>A	ExAC,TOPMed,gnomAD
rs568660290	p.Ser12Asn	missense variant	-	NC_000019.10:g.15376999C>T	ExAC,TOPMed,gnomAD
rs781152033	p.Pro15Leu	missense variant	-	NC_000019.10:g.15376990G>A	ExAC,TOPMed,gnomAD
rs1349016263	p.Pro15Thr	missense variant	-	NC_000019.10:g.15376991G>T	gnomAD
rs757010364	p.Ala16Thr	missense variant	-	NC_000019.10:g.15376988C>T	ExAC,gnomAD
rs1428348574	p.Ala16Val	missense variant	-	NC_000019.10:g.15376987G>A	TOPMed,gnomAD
rs764727382	p.Gly20Val	missense variant	-	NC_000019.10:g.15374635C>A	ExAC,gnomAD
rs766031371	p.Ala21Thr	missense variant	-	NC_000019.10:g.15374633C>T	ExAC,TOPMed,gnomAD
rs1180309872	p.Tyr22Phe	missense variant	-	NC_000019.10:g.15374629T>A	gnomAD
rs1261722110	p.Tyr22His	missense variant	-	NC_000019.10:g.15374630A>G	gnomAD
rs1473740860	p.Val26Met	missense variant	-	NC_000019.10:g.15374618C>T	gnomAD
rs762122355	p.Ala27Asp	missense variant	-	NC_000019.10:g.15374614G>T	ExAC,gnomAD
rs774811575	p.Ser28Gly	missense variant	-	NC_000019.10:g.15374612T>C	ExAC,gnomAD
rs1450311700	p.Gly31Asp	missense variant	-	NC_000019.10:g.15374065C>T	TOPMed
NCI-TCGA novel	p.Asn34Lys	missense variant	-	NC_000019.10:g.15374055G>T	NCI-TCGA
rs747916260	p.Asn34Lys	missense variant	-	NC_000019.10:g.15374055G>C	ExAC,TOPMed,gnomAD
rs200427700	p.Asn36Ser	missense variant	-	NC_000019.10:g.15374050T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs768609581	p.Tyr38Cys	missense variant	-	NC_000019.10:g.15374044T>C	ExAC,TOPMed,gnomAD
rs749177199	p.Gly39Ser	missense variant	-	NC_000019.10:g.15374042C>T	ExAC,TOPMed,gnomAD
rs199886431	p.Ala40Ser	missense variant	-	NC_000019.10:g.15374039C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala40ProArgAlaArgGluArgAlaLeuLeuArgLysThrGluTyr	insertion	-	NC_000019.10:g.15374037_15374038insTATTCAGTTTTCCGGAGCAGCGCTCTTTCTCTGGCCCGCGGA	NCI-TCGA
rs199886431	p.Ala40Thr	missense variant	-	NC_000019.10:g.15374039C>T	ESP,ExAC,TOPMed,gnomAD
rs1211065572	p.Gln41Arg	missense variant	-	NC_000019.10:g.15374035T>C	TOPMed
rs780698925	p.Thr43Ser	missense variant	-	NC_000019.10:g.15374029G>C	ExAC,TOPMed,gnomAD
rs780698925	p.Thr43Ile	missense variant	-	NC_000019.10:g.15374029G>A	ExAC,TOPMed,gnomAD
rs900563839	p.Thr46Ile	missense variant	-	NC_000019.10:g.15374020G>A	TOPMed
rs1246598925	p.Ala49Val	missense variant	-	NC_000019.10:g.15374011G>A	gnomAD
rs1293704113	p.Ala49Ser	missense variant	-	NC_000019.10:g.15374012C>A	TOPMed,gnomAD
rs1293704113	p.Ala49Thr	missense variant	-	NC_000019.10:g.15374012C>T	TOPMed,gnomAD
rs765659943	p.Thr50Ile	missense variant	-	NC_000019.10:g.15374008G>A	ExAC,gnomAD
rs1040875337	p.Thr50Pro	missense variant	-	NC_000019.10:g.15374009T>G	TOPMed
rs1405025128	p.Tyr53Phe	missense variant	-	NC_000019.10:g.15373999T>A	TOPMed
rs371961765	p.Gly54Ser	missense variant	-	NC_000019.10:g.15373997C>T	ESP,ExAC,TOPMed,gnomAD
rs369396055	p.Ala56Val	missense variant	-	NC_000019.10:g.15373990G>A	ESP,TOPMed,gnomAD
COSM709699	p.Ala56Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373990G>C	NCI-TCGA Cosmic
rs1385331172	p.Ser57Leu	missense variant	-	NC_000019.10:g.15373987G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala60Val	missense variant	-	NC_000019.10:g.15373978G>A	NCI-TCGA
rs773531995	p.Ala61Thr	missense variant	-	NC_000019.10:g.15373976C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala61Asp	missense variant	-	NC_000019.10:g.15373975G>T	NCI-TCGA
rs375568292	p.Lys62Arg	missense variant	-	NC_000019.10:g.15373972T>C	ESP,TOPMed,gnomAD
rs543107450	p.Asn64Ser	missense variant	-	NC_000019.10:g.15373966T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1373184159	p.Gly66Asp	missense variant	-	NC_000019.10:g.15373960C>T	TOPMed,gnomAD
rs1373184159	p.Gly66Ala	missense variant	-	NC_000019.10:g.15373960C>G	TOPMed,gnomAD
rs372276967	p.Gly67Ser	missense variant	-	NC_000019.10:g.15373958C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201040301	p.Ala69Val	missense variant	-	NC_000019.10:g.15373951G>A	ESP,ExAC,TOPMed,gnomAD
rs201040301	p.Ala69Gly	missense variant	-	NC_000019.10:g.15373951G>C	ESP,ExAC,TOPMed,gnomAD
rs757004459	p.Gly71Arg	missense variant	-	NC_000019.10:g.15373946C>T	ExAC,TOPMed,gnomAD
rs779421659	p.Ala72Asp	missense variant	-	NC_000019.10:g.15373942G>T	ExAC,TOPMed,gnomAD
rs1316614194	p.Pro73Arg	missense variant	-	NC_000019.10:g.15373939G>C	gnomAD
rs143110237	p.Ala74Val	missense variant	-	NC_000019.10:g.15373936G>A	ESP,ExAC,TOPMed,gnomAD
rs143110237	p.Ala74Asp	missense variant	-	NC_000019.10:g.15373936G>T	ESP,ExAC,TOPMed,gnomAD
COSM4926064	p.Ala74Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373937C>A	NCI-TCGA Cosmic
rs760847556	p.Met75Thr	missense variant	-	NC_000019.10:g.15373933A>G	ExAC,gnomAD
rs1409530929	p.Met75Leu	missense variant	-	NC_000019.10:g.15373934T>G	gnomAD
rs1409530929	p.Met75Leu	missense variant	-	NC_000019.10:g.15373934T>A	gnomAD
rs540992457	p.His76Tyr	missense variant	-	NC_000019.10:g.15373931G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs540992457	p.His76Asn	missense variant	-	NC_000019.10:g.15373931G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs182841537	p.Met77Val	missense variant	-	NC_000019.10:g.15373928T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs182841537	p.Met77Leu	missense variant	-	NC_000019.10:g.15373928T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200946181	p.Ala78Ser	missense variant	-	NC_000019.10:g.15373925C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1171532363	p.Ser79Cys	missense variant	-	NC_000019.10:g.15373921G>C	TOPMed,gnomAD
rs1171532363	p.Ser79Phe	missense variant	-	NC_000019.10:g.15373921G>A	TOPMed,gnomAD
rs138205008	p.Gly81Arg	missense variant	-	NC_000019.10:g.15373916C>G	ESP,ExAC,TOPMed,gnomAD
rs138205008	p.Gly81Ser	missense variant	-	NC_000019.10:g.15373916C>T	ESP,ExAC,TOPMed,gnomAD
rs371717938	p.Pro82Ser	missense variant	-	NC_000019.10:g.15373913G>A	ESP,ExAC,TOPMed,gnomAD
rs1206510197	p.Cys85Trp	missense variant	-	NC_000019.10:g.15373902G>C	gnomAD
COSM992173	p.Cys85Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373903C>T	NCI-TCGA Cosmic
rs1184116236	p.Thr86Ile	missense variant	-	NC_000019.10:g.15373900G>A	TOPMed
rs776305733	p.Asp87Asn	missense variant	-	NC_000019.10:g.15373898C>T	ExAC,TOPMed,gnomAD
rs746722423	p.Asp90Asn	missense variant	-	NC_000019.10:g.15373889C>T	ExAC,gnomAD
rs1263913817	p.Leu92His	missense variant	-	NC_000019.10:g.15373882A>T	gnomAD
rs777549589	p.Ile93Val	missense variant	-	NC_000019.10:g.15373880T>C	ExAC,TOPMed,gnomAD
rs1425445803	p.Ala94Ser	missense variant	-	NC_000019.10:g.15373877C>A	TOPMed
rs145618483	p.Lys95Arg	missense variant	-	NC_000019.10:g.15373873T>C	ESP
rs755415548	p.Asn97Ser	missense variant	-	NC_000019.10:g.15373867T>C	ExAC,gnomAD
rs1340474154	p.Asn97Lys	missense variant	-	NC_000019.10:g.15373866G>T	gnomAD
rs1332921187	p.Gln98His	missense variant	-	NC_000019.10:g.15373863C>A	TOPMed,gnomAD
rs749584259	p.Arg99Cys	missense variant	-	NC_000019.10:g.15373862G>A	ExAC,TOPMed,gnomAD
rs780425403	p.Arg99His	missense variant	-	NC_000019.10:g.15373861C>T	ExAC,gnomAD
rs756600778	p.Asp101His	missense variant	-	NC_000019.10:g.15373856C>G	ExAC,gnomAD
rs756600778	p.Asp101Tyr	missense variant	-	NC_000019.10:g.15373856C>A	ExAC,gnomAD
COSM4075008	p.Lys105Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373843T>C	NCI-TCGA Cosmic
rs537386173	p.Gly108Asp	missense variant	-	NC_000019.10:g.15373834C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1456420803	p.Gly108Cys	missense variant	-	NC_000019.10:g.15373835C>A	gnomAD
rs537386173	p.Gly108Val	missense variant	-	NC_000019.10:g.15373834C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs141962668	p.Arg109Ser	missense variant	-	NC_000019.10:g.15373830C>A	ESP,ExAC,TOPMed,gnomAD
rs751838083	p.Gly110Ser	missense variant	-	NC_000019.10:g.15373829C>T	ExAC,gnomAD
rs1236770565	p.Gly110Val	missense variant	-	NC_000019.10:g.15373828C>A	gnomAD
rs762851384	p.Gly111Arg	missense variant	-	NC_000019.10:g.15373826C>T	ExAC,TOPMed,gnomAD
rs138778621	p.Gly113Ser	missense variant	-	NC_000019.10:g.15373820C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370984046	p.Gly114Ser	missense variant	-	NC_000019.10:g.15373817C>T	ESP,ExAC,TOPMed,gnomAD
rs770618850	p.Gly115Ser	missense variant	-	NC_000019.10:g.15373814C>T	ExAC,TOPMed,gnomAD
rs770618850	p.Gly115Cys	missense variant	-	NC_000019.10:g.15373814C>A	ExAC,TOPMed,gnomAD
rs1356111761	p.Gly115Val	missense variant	-	NC_000019.10:g.15373813C>A	gnomAD
rs773038027	p.Gly116Trp	missense variant	-	NC_000019.10:g.15373811C>A	ExAC,gnomAD
rs773038027	p.Gly116Arg	missense variant	-	NC_000019.10:g.15373811C>T	ExAC,gnomAD
rs886563750	p.Glu117Lys	missense variant	-	NC_000019.10:g.15373808C>T	TOPMed
rs1384334246	p.Gly118Ser	missense variant	-	NC_000019.10:g.15373805C>T	TOPMed,gnomAD
rs771653952	p.Gly118Ala	missense variant	-	NC_000019.10:g.15373804C>G	ExAC,gnomAD
rs747785344	p.Ile119Val	missense variant	-	NC_000019.10:g.15373802T>C	ExAC,gnomAD
rs1343127540	p.Ile119Thr	missense variant	-	NC_000019.10:g.15373801A>G	gnomAD
rs780294003	p.Gln120Arg	missense variant	-	NC_000019.10:g.15373798T>C	ExAC,TOPMed,gnomAD
rs150227649	p.Asp121Glu	missense variant	-	NC_000019.10:g.15373794G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150227649	p.Asp121Glu	missense variant	-	NC_000019.10:g.15373794G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs537526016	p.Arg122Pro	missense variant	-	NC_000019.10:g.15373792C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs140271912	p.Arg122Gly	missense variant	-	NC_000019.10:g.15373793G>C	ESP,ExAC,TOPMed,gnomAD
rs537526016	p.Arg122Gln	missense variant	-	NC_000019.10:g.15373792C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs537526016	p.Arg122Leu	missense variant	-	NC_000019.10:g.15373792C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs140271912	p.Arg122Trp	missense variant	-	NC_000019.10:g.15373793G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser124Ile	missense variant	-	NC_000019.10:g.15373786C>A	NCI-TCGA
rs1293175258	p.Ser124Gly	missense variant	-	NC_000019.10:g.15373787T>C	gnomAD
COSM4854630	p.Ser125Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373338G>A	NCI-TCGA Cosmic
rs1281127140	p.Phe126Leu	missense variant	-	NC_000019.10:g.15373334G>C	gnomAD
rs199596712	p.Arg127Cys	missense variant	-	NC_000019.10:g.15373333G>A	ExAC,TOPMed,gnomAD
rs199596712	p.Arg127Ser	missense variant	-	NC_000019.10:g.15373333G>T	ExAC,TOPMed,gnomAD
rs753715966	p.Arg127Leu	missense variant	-	NC_000019.10:g.15373332C>A	ExAC,TOPMed,gnomAD
COSM2149995	p.Arg127His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373332C>T	NCI-TCGA Cosmic
rs557566826	p.Gln129His	missense variant	-	NC_000019.10:g.15373325C>G	1000Genomes,ExAC,gnomAD
rs543998894	p.Pro130Ala	missense variant	-	NC_000019.10:g.15373324G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs750317687	p.Pro130Leu	missense variant	-	NC_000019.10:g.15373323G>A	ExAC,TOPMed,gnomAD
rs761375603	p.Phe131Leu	missense variant	-	NC_000019.10:g.15373319G>T	ExAC,gnomAD
rs117367631	p.Glu132Lys	missense variant	-	NC_000019.10:g.15373318C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117367631	p.Glu132Gln	missense variant	-	NC_000019.10:g.15373318C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762557069	p.Tyr134Cys	missense variant	-	NC_000019.10:g.15373311T>C	ExAC,gnomAD
rs777006737	p.Asp135Tyr	missense variant	-	NC_000019.10:g.15373309C>A	ExAC,gnomAD
rs771230436	p.Ser136Tyr	missense variant	-	NC_000019.10:g.15373305G>T	ExAC
rs1224492328	p.Arg137Ser	missense variant	-	NC_000019.10:g.15373301C>A	TOPMed
rs747522574	p.Pro138Leu	missense variant	-	NC_000019.10:g.15373299G>A	ExAC,gnomAD
rs1175966049	p.Pro138Ser	missense variant	-	NC_000019.10:g.15373300G>A	TOPMed,gnomAD
rs1175966049	p.Pro138Thr	missense variant	-	NC_000019.10:g.15373300G>T	TOPMed,gnomAD
rs1252549849	p.Cys139Arg	missense variant	-	NC_000019.10:g.15373297A>G	gnomAD
rs778326770	p.Pro141Leu	missense variant	-	NC_000019.10:g.15373290G>A	ExAC,TOPMed,gnomAD
rs1263163161	p.Glu142Gln	missense variant	-	NC_000019.10:g.15373288C>G	TOPMed
NCI-TCGA novel	p.Glu142Lys	missense variant	-	NC_000019.10:g.15373288C>T	NCI-TCGA
rs748223348	p.His143Gln	missense variant	-	NC_000019.10:g.15373283G>C	ExAC,TOPMed,gnomAD
rs755272068	p.Pro145Leu	missense variant	-	NC_000019.10:g.15373278G>A	ExAC,TOPMed,gnomAD
rs778814765	p.Pro145Ser	missense variant	-	NC_000019.10:g.15373279G>A	ExAC,gnomAD
rs1306087762	p.Tyr146Asn	missense variant	-	NC_000019.10:g.15373276A>T	gnomAD
rs1389598762	p.Tyr146Cys	missense variant	-	NC_000019.10:g.15373275T>C	gnomAD
rs199551594	p.Arg147His	missense variant	-	NC_000019.10:g.15373272C>T	ExAC,TOPMed,gnomAD
COSM6150280	p.Arg147Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373272C>A	NCI-TCGA Cosmic
rs779998462	p.Arg147Cys	missense variant	-	NC_000019.10:g.15373273G>A	ExAC,TOPMed,gnomAD
rs750388000	p.Pro148Leu	missense variant	-	NC_000019.10:g.15373269G>A	ExAC,TOPMed,gnomAD
rs146125281	p.Tyr150Cys	missense variant	-	NC_000019.10:g.15373263T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1411652142	p.Ser151Ile	missense variant	-	NC_000019.10:g.15373260C>A	gnomAD
NCI-TCGA novel	p.Tyr152Cys	missense variant	-	NC_000019.10:g.15373257T>C	NCI-TCGA
rs1310980536	p.Asp153Glu	missense variant	-	NC_000019.10:g.15373253G>T	TOPMed
rs1405977146	p.Asp153Val	missense variant	-	NC_000019.10:g.15373254T>A	TOPMed
rs763550420	p.Asp153Asn	missense variant	-	NC_000019.10:g.15373255C>T	ExAC,TOPMed,gnomAD
rs762609413	p.Glu155Lys	missense variant	-	NC_000019.10:g.15373249C>T	ExAC,TOPMed,gnomAD
rs775060199	p.Glu155Val	missense variant	-	NC_000019.10:g.15373248T>A	ExAC,gnomAD
rs773627639	p.Phe156Leu	missense variant	-	NC_000019.10:g.15373244G>C	ExAC,TOPMed,gnomAD
rs773627639	p.Phe156Leu	missense variant	-	NC_000019.10:g.15373244G>T	ExAC,TOPMed,gnomAD
rs772661694	p.Asp157Asn	missense variant	-	NC_000019.10:g.15373243C>T	ExAC,gnomAD
rs774502753	p.Asp161Asn	missense variant	-	NC_000019.10:g.15373231C>T	ExAC,TOPMed,gnomAD
COSM3529627	p.Asp161Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373231C>A	NCI-TCGA Cosmic
rs375658740	p.Arg162Cys	missense variant	-	NC_000019.10:g.15373228G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs558615660	p.Arg162His	missense variant	-	NC_000019.10:g.15373227C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs780411972	p.Asn163Ser	missense variant	-	NC_000019.10:g.15373224T>C	ExAC,TOPMed,gnomAD
rs756024480	p.Gly164Asp	missense variant	-	NC_000019.10:g.15373221C>T	ExAC,TOPMed,gnomAD
COSM992169	p.Phe166Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373215A>G	NCI-TCGA Cosmic
rs142229471	p.Gly167Trp	missense variant	-	NC_000019.10:g.15373213C>A	ESP,ExAC,TOPMed,gnomAD
rs148526102	p.Gly167Ala	missense variant	-	NC_000019.10:g.15373212C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148526102	p.Gly167Val	missense variant	-	NC_000019.10:g.15373212C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142229471	p.Gly167Arg	missense variant	-	NC_000019.10:g.15373213C>G	ESP,ExAC,TOPMed,gnomAD
rs142229471	p.Gly167Arg	missense variant	-	NC_000019.10:g.15373213C>T	ESP,ExAC,TOPMed,gnomAD
rs148526102	p.Gly167Glu	missense variant	-	NC_000019.10:g.15373212C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1384599376	p.Gln169Arg	missense variant	-	NC_000019.10:g.15373206T>C	gnomAD
COSM5017897	p.Gln169SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.15373208C>-	NCI-TCGA Cosmic
rs768155611	p.Ser171Gly	missense variant	-	NC_000019.10:g.15373201T>C	gnomAD
NCI-TCGA novel	p.Ser171Asn	missense variant	-	NC_000019.10:g.15373200C>T	NCI-TCGA
rs1410578177	p.Glu172Asp	missense variant	-	NC_000019.10:g.15373196T>A	gnomAD
rs764834209	p.Cys173Trp	missense variant	-	NC_000019.10:g.15373193G>C	ExAC,TOPMed,gnomAD
rs759068489	p.Arg174Gln	missense variant	-	NC_000019.10:g.15373191C>T	ExAC,TOPMed,gnomAD
rs1163456064	p.Arg174Ter	stop gained	-	NC_000019.10:g.15373192G>A	TOPMed,gnomAD
rs1163456064	p.Arg174Gly	missense variant	-	NC_000019.10:g.15373192G>C	TOPMed,gnomAD
rs773646159	p.Pro176Ser	missense variant	-	NC_000019.10:g.15373186G>A	ExAC,TOPMed
rs201218309	p.Arg178Trp	missense variant	-	NC_000019.10:g.15373180G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12983369	p.Arg178Gln	missense variant	-	NC_000019.10:g.15373179C>T	ExAC,TOPMed,gnomAD
rs749357933	p.Arg180Gly	missense variant	-	NC_000019.10:g.15373174G>C	ExAC,gnomAD
rs749357933	p.Arg180Trp	missense variant	-	NC_000019.10:g.15373174G>A	ExAC,gnomAD
rs144996992	p.Arg180Leu	missense variant	-	NC_000019.10:g.15373173C>A	ESP,ExAC,TOPMed,gnomAD
rs144996992	p.Arg180Gln	missense variant	-	NC_000019.10:g.15373173C>T	ESP,ExAC,TOPMed,gnomAD
rs770173155	p.Gly181Asp	missense variant	-	NC_000019.10:g.15373170C>T	ExAC,gnomAD
COSM3529626	p.Ser182Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373167G>A	NCI-TCGA Cosmic
rs781056958	p.Asp184Val	missense variant	-	NC_000019.10:g.15373161T>A	ExAC,TOPMed,gnomAD
rs747038257	p.Met187Lys	missense variant	-	NC_000019.10:g.15373152A>T	ExAC,gnomAD
rs757939809	p.Arg188Gln	missense variant	-	NC_000019.10:g.15373149C>T	ExAC,TOPMed,gnomAD
rs569588266	p.Arg188Trp	missense variant	-	NC_000019.10:g.15373150G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs919960025	p.Gly189Asp	missense variant	-	NC_000019.10:g.15373146C>T	TOPMed,gnomAD
rs1290571958	p.Gly189Ser	missense variant	-	NC_000019.10:g.15373147C>T	TOPMed
rs1290571958	p.Gly189Cys	missense variant	-	NC_000019.10:g.15373147C>A	TOPMed
rs919960025	p.Gly189Val	missense variant	-	NC_000019.10:g.15373146C>A	TOPMed,gnomAD
rs773929361	p.Arg190Gln	missense variant	-	NC_000019.10:g.15373143C>T	ExAC,TOPMed,gnomAD
rs199550070	p.Arg190Trp	missense variant	-	NC_000019.10:g.15373144G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199550070	p.Arg190Gly	missense variant	-	NC_000019.10:g.15373144G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148406708	p.Gly191Arg	missense variant	-	NC_000019.10:g.15373141C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767992491	p.Gly191Asp	missense variant	-	NC_000019.10:g.15373140C>T	ExAC,TOPMed,gnomAD
rs148406708	p.Gly191Ser	missense variant	-	NC_000019.10:g.15373141C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762070995	p.Gln192Glu	missense variant	-	NC_000019.10:g.15373138G>C	ExAC,gnomAD
rs1396458339	p.Gln192Arg	missense variant	-	NC_000019.10:g.15373137T>C	TOPMed
rs374092087	p.Arg194Cys	missense variant	-	NC_000019.10:g.15373132G>A	ESP,ExAC,TOPMed,gnomAD
rs61757556	p.Arg194His	missense variant	-	NC_000019.10:g.15373131C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1489803018	p.Asp197Gly	missense variant	-	NC_000019.10:g.15373122T>C	gnomAD
rs954721453	p.Asp197Asn	missense variant	-	NC_000019.10:g.15373123C>T	gnomAD
rs547463044	p.Arg198Leu	missense variant	-	NC_000019.10:g.15373119C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775735026	p.Arg198Trp	missense variant	-	NC_000019.10:g.15373120G>A	ExAC,TOPMed,gnomAD
rs775735026	p.Arg198Gly	missense variant	-	NC_000019.10:g.15373120G>C	ExAC,TOPMed,gnomAD
rs547463044	p.Arg198Gln	missense variant	-	NC_000019.10:g.15373119C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs995910484	p.Pro201Thr	missense variant	-	NC_000019.10:g.15373111G>T	TOPMed,gnomAD
rs1229848551	p.Thr203Ile	missense variant	-	NC_000019.10:g.15373104G>A	gnomAD
rs1282895129	p.Phe204Leu	missense variant	-	NC_000019.10:g.15373100G>T	gnomAD
rs1282895129	p.Phe204Leu	missense variant	-	NC_000019.10:g.15373100G>C	gnomAD
rs1403417073	p.Met205Thr	missense variant	-	NC_000019.10:g.15373098A>G	gnomAD
rs1251624887	p.Met205Val	missense variant	-	NC_000019.10:g.15373099T>C	TOPMed
rs111389458	p.Arg206His	missense variant	-	NC_000019.10:g.15373095C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370861200	p.Arg206Cys	missense variant	-	NC_000019.10:g.15373096G>A	ESP,ExAC,TOPMed,gnomAD
rs746746325	p.Ser207Gly	missense variant	-	NC_000019.10:g.15373093T>C	ExAC,gnomAD
rs942141241	p.Asp208Asn	missense variant	-	NC_000019.10:g.15373090C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Phe210SerPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.15373085G>-	NCI-TCGA
rs532876878	p.Val211Met	missense variant	-	NC_000019.10:g.15373081C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1270812806	p.Pro212Leu	missense variant	-	NC_000019.10:g.15373077G>A	gnomAD
rs1199467640	p.Pro213Leu	missense variant	-	NC_000019.10:g.15373074G>A	TOPMed,gnomAD
rs1199467640	p.Pro213Arg	missense variant	-	NC_000019.10:g.15373074G>C	TOPMed,gnomAD
rs1326927523	p.Ala214Thr	missense variant	-	NC_000019.10:g.15373072C>T	gnomAD
rs563931587	p.Ala215Val	missense variant	-	NC_000019.10:g.15373068G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757681607	p.Ser216Phe	missense variant	-	NC_000019.10:g.15373065G>A	ExAC,TOPMed,gnomAD
rs764505670	p.Ser217Cys	missense variant	-	NC_000019.10:g.15373062G>C	ExAC,gnomAD
rs1347751505	p.Glu218Asp	missense variant	-	NC_000019.10:g.15373058C>G	gnomAD
rs1284371995	p.Leu220Pro	missense variant	-	NC_000019.10:g.15373053A>G	gnomAD
rs1284371995	p.Leu220Arg	missense variant	-	NC_000019.10:g.15373053A>C	gnomAD
rs759524859	p.Thr222Met	missense variant	-	NC_000019.10:g.15373047G>A	ExAC,TOPMed,gnomAD
rs765428584	p.Thr222Pro	missense variant	-	NC_000019.10:g.15373048T>G	ExAC,gnomAD
NCI-TCGA novel	p.Trp224Ter	missense variant	-	NC_000019.10:g.15373040C>T	NCI-TCGA
rs1296033178	p.Asn225Tyr	missense variant	-	NC_000019.10:g.15373039T>A	TOPMed
rs200383217	p.Glu226Lys	missense variant	-	NC_000019.10:g.15373036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1431120498	p.Leu227Val	missense variant	-	NC_000019.10:g.15373033G>C	gnomAD
rs1010782035	p.Asn228Ser	missense variant	-	NC_000019.10:g.15373029T>C	TOPMed,gnomAD
rs1173015735	p.Asn228Lys	missense variant	-	NC_000019.10:g.15373028G>C	gnomAD
rs1231034890	p.Val230Met	missense variant	-	NC_000019.10:g.15373024C>T	gnomAD
rs1183940094	p.Gly231Ser	missense variant	-	NC_000019.10:g.15373021C>T	gnomAD
rs561267299	p.Gly231Asp	missense variant	-	NC_000019.10:g.15373020C>T	1000Genomes,ExAC,gnomAD
rs768260540	p.Gly232Val	missense variant	-	NC_000019.10:g.15373017C>A	ExAC,gnomAD
rs1242658070	p.Gly232Arg	missense variant	-	NC_000019.10:g.15373018C>T	gnomAD
rs779577362	p.Arg233Gln	missense variant	-	NC_000019.10:g.15373014C>T	ExAC,TOPMed
rs748716805	p.Arg233Trp	missense variant	-	NC_000019.10:g.15373015G>A	ExAC,TOPMed,gnomAD
rs1261277688	p.Gly234Asp	missense variant	-	NC_000019.10:g.15373011C>T	TOPMed
rs1178992484	p.Leu235Pro	missense variant	-	NC_000019.10:g.15373008A>G	TOPMed
rs778290315	p.Gly237Arg	missense variant	-	NC_000019.10:g.15373003C>G	ExAC,gnomAD
rs778290315	p.Gly237Arg	missense variant	-	NC_000019.10:g.15373003C>T	ExAC,gnomAD
rs1356868314	p.Pro238Leu	missense variant	-	NC_000019.10:g.15372999G>A	TOPMed
NCI-TCGA novel	p.Pro238Ser	missense variant	-	NC_000019.10:g.15373000G>A	NCI-TCGA
rs1174761564	p.Pro238Thr	missense variant	-	NC_000019.10:g.15373000G>T	TOPMed
rs1037916527	p.Ser239Pro	missense variant	-	NC_000019.10:g.15372997A>G	TOPMed
rs1202600832	p.Pro240Ser	missense variant	-	NC_000019.10:g.15372994G>A	gnomAD
rs374389542	p.Pro240His	missense variant	-	NC_000019.10:g.15372993G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro240Leu	missense variant	-	NC_000019.10:g.15372993G>A	NCI-TCGA
rs1055952904	p.Ser241Ile	missense variant	-	NC_000019.10:g.15372990C>A	TOPMed,gnomAD
rs766422224	p.Arg242Leu	missense variant	-	NC_000019.10:g.15372987C>A	ExAC,TOPMed,gnomAD
rs538615949	p.Arg242Trp	missense variant	-	NC_000019.10:g.15372988G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766422224	p.Arg242Gln	missense variant	-	NC_000019.10:g.15372987C>T	ExAC,TOPMed,gnomAD
rs1181886340	p.Pro243Leu	missense variant	-	NC_000019.10:g.15372984G>A	TOPMed,gnomAD
rs761573604	p.Pro244Ala	missense variant	-	NC_000019.10:g.15372982G>C	ExAC,gnomAD
rs761573604	p.Pro244Ser	missense variant	-	NC_000019.10:g.15372982G>A	ExAC,gnomAD
rs1238201909	p.Pro244Leu	missense variant	-	NC_000019.10:g.15372981G>A	gnomAD
rs1215374622	p.Pro245Thr	missense variant	-	NC_000019.10:g.15372979G>T	gnomAD
rs774386640	p.Pro245Leu	missense variant	-	NC_000019.10:g.15372978G>A	ExAC,TOPMed,gnomAD
rs375504255	p.Leu247Val	missense variant	-	NC_000019.10:g.15372973G>C	ESP,TOPMed,gnomAD
rs375504255	p.Leu247Phe	missense variant	-	NC_000019.10:g.15372973G>A	ESP,TOPMed,gnomAD
rs1477990727	p.Leu247Arg	missense variant	-	NC_000019.10:g.15372972A>C	TOPMed
rs1241470823	p.Ser249Phe	missense variant	-	NC_000019.10:g.15372966G>A	gnomAD
rs774877555	p.Gln250Ter	stop gained	-	NC_000019.10:g.15372964G>A	ExAC
NCI-TCGA novel	p.Ser251Cys	missense variant	-	NC_000019.10:g.15372960G>C	NCI-TCGA
rs1313724494	p.Met252Val	missense variant	-	NC_000019.10:g.15372958T>C	gnomAD
rs1243066328	p.Ala253Ser	missense variant	-	NC_000019.10:g.15372955C>A	TOPMed,gnomAD
rs1243066328	p.Ala253Pro	missense variant	-	NC_000019.10:g.15372955C>G	TOPMed,gnomAD
rs745584936	p.Asp255His	missense variant	-	NC_000019.10:g.15372949C>G	ExAC,TOPMed,gnomAD
rs745584936	p.Asp255Asn	missense variant	-	NC_000019.10:g.15372949C>T	ExAC,TOPMed,gnomAD
rs1417431780	p.Tyr256His	missense variant	-	NC_000019.10:g.15372946A>G	TOPMed
rs1304748437	p.Tyr256Cys	missense variant	-	NC_000019.10:g.15372945T>C	TOPMed
rs1320118342	p.Gly257Ser	missense variant	-	NC_000019.10:g.15372943C>T	gnomAD
rs144582281	p.Val258Leu	missense variant	-	NC_000019.10:g.15372940C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144582281	p.Val258Met	missense variant	-	NC_000019.10:g.15372940C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779284132	p.Met259Thr	missense variant	-	NC_000019.10:g.15372936A>G	ExAC,gnomAD
rs1161598305	p.Met259Ile	missense variant	-	NC_000019.10:g.15372935C>T	gnomAD
rs1446478436	p.Met261Leu	missense variant	-	NC_000019.10:g.15372931T>A	TOPMed,gnomAD
rs1375398880	p.Met261Ile	missense variant	-	NC_000019.10:g.15372929C>G	TOPMed
rs755451146	p.Gln262Arg	missense variant	-	NC_000019.10:g.15372927T>C	ExAC,gnomAD
RCV000190141	p.Gly263Arg	missense variant	Long QT syndrome (LQTS)	NC_000019.10:g.15372925C>G	ClinVar
rs754301101	p.Gly263Arg	missense variant	-	NC_000019.10:g.15372925C>T	ExAC,gnomAD
rs754301101	p.Gly263Trp	missense variant	-	NC_000019.10:g.15372925C>A	ExAC,gnomAD
rs754301101	p.Gly263Arg	missense variant	-	NC_000019.10:g.15372925C>G	ExAC,gnomAD
rs1474574714	p.Ala264Pro	missense variant	-	NC_000019.10:g.15372922C>G	gnomAD
rs766433853	p.Ala264Val	missense variant	-	NC_000019.10:g.15372921G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala264GlyPheSerTerUnk	frameshift	-	NC_000019.10:g.15372921_15372922insC	NCI-TCGA
rs1490293541	p.Gly265Asp	missense variant	-	NC_000019.10:g.15372918C>T	gnomAD
rs567114306	p.Gly266Asp	missense variant	-	NC_000019.10:g.15372915C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly266Cys	missense variant	-	NC_000019.10:g.15372916C>A	NCI-TCGA
NCI-TCGA novel	p.Gly266Val	missense variant	-	NC_000019.10:g.15372915C>A	NCI-TCGA
rs201942739	p.Gly266Ser	missense variant	-	NC_000019.10:g.15372916C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761984246	p.Tyr267Ser	missense variant	-	NC_000019.10:g.15372912T>G	ExAC,TOPMed,gnomAD
rs1290014113	p.Tyr267His	missense variant	-	NC_000019.10:g.15372913A>G	gnomAD
rs761984246	p.Tyr267Cys	missense variant	-	NC_000019.10:g.15372912T>C	ExAC,TOPMed,gnomAD
rs1359501907	p.Asp268Asn	missense variant	-	NC_000019.10:g.15372910C>T	gnomAD
rs763893708	p.Thr270Ile	missense variant	-	NC_000019.10:g.15372903G>A	ExAC,gnomAD
rs1178742400	p.Met271Ile	missense variant	-	NC_000019.10:g.15372899C>A	TOPMed
rs1470776913	p.Met271Thr	missense variant	-	NC_000019.10:g.15372900A>G	TOPMed
rs775496511	p.Gly274Arg	missense variant	-	NC_000019.10:g.15372892C>T	ExAC,TOPMed,gnomAD
rs1350511945	p.Gly274Glu	missense variant	-	NC_000019.10:g.15372891C>T	gnomAD
rs1165142541	p.Cys275Ser	missense variant	-	NC_000019.10:g.15372888C>G	TOPMed
rs772828195	p.Arg277Cys	missense variant	-	NC_000019.10:g.15372883G>A	ExAC,gnomAD
rs776467913	p.Arg277His	missense variant	-	NC_000019.10:g.15372882C>T	ExAC,TOPMed,gnomAD
rs533862171	p.Ser278Leu	missense variant	-	NC_000019.10:g.15372879G>A	1000Genomes,ExAC,gnomAD
rs1482067092	p.Pro280Ala	missense variant	-	NC_000019.10:g.15372874G>C	gnomAD
rs769057727	p.Arg281Gln	missense variant	-	NC_000019.10:g.15372870C>T	ExAC,TOPMed,gnomAD
rs779146472	p.Arg281Trp	missense variant	-	NC_000019.10:g.15372871G>A	ExAC,TOPMed,gnomAD
rs1203134365	p.Met282Ile	missense variant	-	NC_000019.10:g.15372866C>T	gnomAD
rs1265500562	p.Met282Thr	missense variant	-	NC_000019.10:g.15372867A>G	gnomAD
rs1305262102	p.Arg283Trp	missense variant	-	NC_000019.10:g.15372865G>A	TOPMed,gnomAD
rs1305262102	p.Arg283Gly	missense variant	-	NC_000019.10:g.15372865G>C	TOPMed,gnomAD
rs201087231	p.Arg283Pro	missense variant	-	NC_000019.10:g.15372864C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201087231	p.Arg283Gln	missense variant	-	NC_000019.10:g.15372864C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201087231	p.Arg283Leu	missense variant	-	NC_000019.10:g.15372864C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750533192	p.Asp284Val	missense variant	-	NC_000019.10:g.15372861T>A	ExAC,gnomAD
rs369628844	p.Asp284Tyr	missense variant	-	NC_000019.10:g.15372862C>A	ESP,ExAC,TOPMed,gnomAD
rs377047890	p.Arg285Trp	missense variant	-	NC_000019.10:g.15372859G>A	ESP,ExAC,TOPMed,gnomAD
rs757485353	p.Arg285Gln	missense variant	-	NC_000019.10:g.15372858C>T	ExAC,TOPMed,gnomAD
rs146135700	p.Arg287Gln	missense variant	-	NC_000019.10:g.15372852C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763864182	p.Arg287Trp	missense variant	-	NC_000019.10:g.15372853G>A	ExAC,gnomAD
rs747084890	p.Lys289Arg	missense variant	-	NC_000019.10:g.15372343T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly292Trp	missense variant	-	NC_000019.10:g.15372335C>A	NCI-TCGA
rs374011971	p.Arg295His	missense variant	-	NC_000019.10:g.15372325C>T	ESP,ExAC,TOPMed,gnomAD
rs374011971	p.Arg295Leu	missense variant	-	NC_000019.10:g.15372325C>A	ESP,ExAC,TOPMed,gnomAD
rs45479794	p.Arg295Gly	missense variant	-	NC_000019.10:g.15372326G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs45479794	p.Arg295Cys	missense variant	-	NC_000019.10:g.15372326G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778915734	p.Phe296Cys	missense variant	-	NC_000019.10:g.15372322A>C	ExAC,TOPMed
rs757688688	p.Phe296TrpSerTerHisThrValAlaHisUnk	stop gained	-	NC_000019.10:g.15372322_15372323insTGAGCCACAGTGTGTTAGGACC	ExAC
rs1315048906	p.Phe296Ile	missense variant	-	NC_000019.10:g.15372323A>T	gnomAD
rs981491959	p.Gly297Arg	missense variant	-	NC_000019.10:g.15372320C>T	TOPMed,gnomAD
rs199931184	p.Pro298Gln	missense variant	-	NC_000019.10:g.15372316G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199931184	p.Pro298Leu	missense variant	-	NC_000019.10:g.15372316G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs778223401	p.Thr301Met	missense variant	-	NC_000019.10:g.15372307G>A	ExAC,TOPMed,gnomAD
rs1433315191	p.Lys304Glu	missense variant	-	NC_000019.10:g.15372299T>C	TOPMed
rs1189149472	p.Lys304Arg	missense variant	-	NC_000019.10:g.15372298T>C	gnomAD
rs562521789	p.Arg305Trp	missense variant	-	NC_000019.10:g.15372296G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752673284	p.Arg305Gln	missense variant	-	NC_000019.10:g.15372295C>T	ExAC,TOPMed,gnomAD
rs1298596067	p.Phe308Leu	missense variant	-	NC_000019.10:g.15372285G>T	TOPMed
rs141922967	p.Leu310Val	missense variant	-	NC_000019.10:g.15372281G>C	ESP,ExAC,gnomAD
rs199867696	p.Glu312Lys	missense variant	-	NC_000019.10:g.15372275C>T	ESP,ExAC,TOPMed,gnomAD
rs199867696	p.Glu312Gln	missense variant	-	NC_000019.10:g.15372275C>G	ESP,ExAC,TOPMed,gnomAD
rs371432747	p.Glu313Lys	missense variant	-	NC_000019.10:g.15372272C>T	ESP,ExAC,TOPMed,gnomAD
rs371432747	p.Glu313Ter	stop gained	-	NC_000019.10:g.15372272C>A	ESP,ExAC,TOPMed,gnomAD
COSM1736549	p.Pro314Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15372269G>C	NCI-TCGA Cosmic
rs148305720	p.Asp315Gly	missense variant	-	NC_000019.10:g.15372265T>C	ESP,ExAC,TOPMed,gnomAD
rs779252959	p.Thr316Pro	missense variant	-	NC_000019.10:g.15372263T>G	ExAC,gnomAD
rs779252959	p.Thr316Ala	missense variant	-	NC_000019.10:g.15372263T>C	ExAC,gnomAD
rs1341559858	p.Lys317Arg	missense variant	-	NC_000019.10:g.15372259T>C	gnomAD
rs749125058	p.Ala319Val	missense variant	-	NC_000019.10:g.15372253G>A	ExAC,gnomAD
rs115439396	p.Arg320Leu	missense variant	-	NC_000019.10:g.15372250C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779664437	p.Arg320Trp	missense variant	-	NC_000019.10:g.15372251G>A	ExAC,TOPMed,gnomAD
rs115439396	p.Arg320Gln	missense variant	-	NC_000019.10:g.15372250C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs567716912	p.Val321Ala	missense variant	-	NC_000019.10:g.15372247A>G	ExAC,TOPMed,gnomAD
rs767123360	p.Val321Ile	missense variant	-	NC_000019.10:g.15372248C>T	ExAC,TOPMed,gnomAD
rs567716912	p.Val321Asp	missense variant	-	NC_000019.10:g.15372247A>T	ExAC,TOPMed,gnomAD
rs1478651763	p.Asp322His	missense variant	-	NC_000019.10:g.15372245C>G	gnomAD
rs1478651763	p.Asp322Tyr	missense variant	-	NC_000019.10:g.15372245C>A	gnomAD
rs553738230	p.Ser323Gly	missense variant	-	NC_000019.10:g.15372242T>C	1000Genomes,ExAC,gnomAD
rs766581299	p.Ser323Asn	missense variant	-	NC_000019.10:g.15372241C>T	ExAC,gnomAD
rs367556124	p.Gly325Arg	missense variant	-	NC_000019.10:g.15372236C>T	ESP,ExAC,TOPMed,gnomAD
COSM3529624	p.Gly325Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15372235C>A	NCI-TCGA Cosmic
rs1338832066	p.Asp326His	missense variant	-	NC_000019.10:g.15372233C>G	gnomAD
rs201405913	p.Glu329Gln	missense variant	-	NC_000019.10:g.15372224C>G	1000Genomes,TOPMed,gnomAD
rs201405913	p.Glu329Lys	missense variant	-	NC_000019.10:g.15372224C>T	1000Genomes,TOPMed,gnomAD
rs761951154	p.Glu329Gly	missense variant	-	NC_000019.10:g.15372223T>C	ExAC,gnomAD
COSM1391104	p.Asn330MetPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.15372220T>-	NCI-TCGA Cosmic
rs200305270	p.Asp332Gly	missense variant	-	NC_000019.10:g.15371995T>C	1000Genomes
rs1280443678	p.Asp332Tyr	missense variant	-	NC_000019.10:g.15371996C>A	TOPMed
rs1256714813	p.Ala334Gly	missense variant	-	NC_000019.10:g.15371989G>C	TOPMed
rs1218628167	p.Ala334Thr	missense variant	-	NC_000019.10:g.15371990C>T	TOPMed
rs1378532416	p.Gly335Cys	missense variant	-	NC_000019.10:g.15371987C>A	gnomAD
COSM3529623	p.Gly335Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15371987C>T	NCI-TCGA Cosmic
rs770882953	p.Phe337Tyr	missense variant	-	NC_000019.10:g.15371980A>T	ExAC,TOPMed,gnomAD
rs770882953	p.Phe337Ser	missense variant	-	NC_000019.10:g.15371980A>G	ExAC,TOPMed,gnomAD
rs1242715297	p.Arg338Cys	missense variant	-	NC_000019.10:g.15371978G>A	TOPMed,gnomAD
rs560438541	p.Arg338His	missense variant	-	NC_000019.10:g.15371977C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs560438541	p.Arg338Leu	missense variant	-	NC_000019.10:g.15371977C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser339Ala	missense variant	-	NC_000019.10:g.15371975A>C	NCI-TCGA
NCI-TCGA novel	p.Ser339Ter	stop gained	-	NC_000019.10:g.15371974G>T	NCI-TCGA
rs375676951	p.Gly340Arg	missense variant	-	NC_000019.10:g.15371972C>T	ESP,ExAC,TOPMed,gnomAD
rs149598752	p.Gly340Glu	missense variant	-	NC_000019.10:g.15371971C>T	ESP,TOPMed,gnomAD
rs1192939395	p.Phe344Leu	missense variant	-	NC_000019.10:g.15371960A>G	TOPMed
NCI-TCGA novel	p.Lys345Glu	missense variant	-	NC_000019.10:g.15371957T>C	NCI-TCGA
rs1371236566	p.Gly346Asp	missense variant	-	NC_000019.10:g.15371953C>T	TOPMed
rs138223241	p.Glu347Lys	missense variant	-	NC_000019.10:g.15370179C>T	ESP,ExAC,TOPMed,gnomAD
rs747019407	p.Asp348Gly	missense variant	-	NC_000019.10:g.15370175T>C	ExAC,TOPMed
rs770651728	p.Asp348Asn	missense variant	-	NC_000019.10:g.15370176C>T	ExAC,gnomAD
rs34063092	p.Leu350Phe	missense variant	-	NC_000019.10:g.15370170G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778447463	p.Cys351Arg	missense variant	-	NC_000019.10:g.15370167A>G	ExAC,gnomAD
rs754591935	p.Cys351Trp	missense variant	-	NC_000019.10:g.15370165G>C	ExAC,TOPMed,gnomAD
rs748913936	p.Asp352Asn	missense variant	-	NC_000019.10:g.15370164C>T	ExAC,gnomAD
rs749344859	p.Ser353Thr	missense variant	-	NC_000019.10:g.15370161A>T	TOPMed,gnomAD
rs932022124	p.Arg355Lys	missense variant	-	NC_000019.10:g.15370154C>T	TOPMed,gnomAD
rs752151622	p.Arg357Ser	missense variant	-	NC_000019.10:g.15370147T>A	ExAC,gnomAD
rs138174418	p.Lys360Glu	missense variant	-	NC_000019.10:g.15368317T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys360Thr	missense variant	-	NC_000019.10:g.15368316T>G	NCI-TCGA
rs1239564420	p.Glu361Asp	missense variant	-	NC_000019.10:g.15368312C>G	gnomAD
rs772466008	p.Glu363Lys	missense variant	-	NC_000019.10:g.15368308C>T	ExAC,TOPMed,gnomAD
rs1254075328	p.Asp364Gly	missense variant	-	NC_000019.10:g.15368304T>C	gnomAD
rs867833489	p.Glu365Lys	missense variant	-	NC_000019.10:g.15368302C>T	TOPMed,gnomAD
rs867833489	p.Glu365Ter	stop gained	-	NC_000019.10:g.15368302C>A	TOPMed,gnomAD
rs779457121	p.Asp366Asn	missense variant	-	NC_000019.10:g.15368299C>T	ExAC,gnomAD
rs779457121	p.Asp366Tyr	missense variant	-	NC_000019.10:g.15368299C>A	ExAC,gnomAD
rs1237995595	p.Val367Met	missense variant	-	NC_000019.10:g.15368296C>T	TOPMed,gnomAD
rs755393923	p.Val367Ala	missense variant	-	NC_000019.10:g.15368295A>G	ExAC,gnomAD
rs756343813	p.Arg370Ser	missense variant	-	NC_000019.10:g.15368285T>G	ExAC,gnomAD
rs368973978	p.Arg371Thr	missense variant	-	NC_000019.10:g.15368283C>G	ESP,ExAC,TOPMed,gnomAD
rs1262136071	p.Lys373Thr	missense variant	-	NC_000019.10:g.15368277T>G	TOPMed
rs767283404	p.Gln374Glu	missense variant	-	NC_000019.10:g.15368275G>C	ExAC,gnomAD
rs767283404	p.Gln374Lys	missense variant	-	NC_000019.10:g.15368275G>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg377Thr	missense variant	-	NC_000019.10:g.15368265C>G	NCI-TCGA
rs751500989	p.Asp378Glu	missense variant	-	NC_000019.10:g.15368261G>C	ExAC,TOPMed,gnomAD
rs140071691	p.Thr380Met	missense variant	-	NC_000019.10:g.15368256G>A	ESP,TOPMed,gnomAD
rs974441300	p.Arg381Trp	missense variant	-	NC_000019.10:g.15368254G>A	gnomAD
rs1422935061	p.Arg381Gln	missense variant	-	NC_000019.10:g.15368253C>T	gnomAD
COSM4075002	p.Asp382Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15368250T>C	NCI-TCGA Cosmic
rs762942536	p.Arg383Cys	missense variant	-	NC_000019.10:g.15368248G>A	ExAC,TOPMed,gnomAD
rs933036638	p.Arg383His	missense variant	-	NC_000019.10:g.15368247C>T	TOPMed,gnomAD
rs1483460306	p.Ala384Pro	missense variant	-	NC_000019.10:g.15368245C>G	TOPMed,gnomAD
rs775141589	p.Ala384Val	missense variant	-	NC_000019.10:g.15368244G>A	ExAC,gnomAD
rs1286906975	p.Asp386Ala	missense variant	-	NC_000019.10:g.15368238T>G	gnomAD
rs1355924852	p.Asp386Asn	missense variant	-	NC_000019.10:g.15368239C>T	TOPMed,gnomAD
rs1319058001	p.Ile388Val	missense variant	-	NC_000019.10:g.15362250T>C	gnomAD
rs374745328	p.Cys392Ser	missense variant	-	NC_000019.10:g.15362237C>G	ESP,ExAC,gnomAD
rs1302862019	p.Ser393Cys	missense variant	-	NC_000019.10:g.15362234G>C	gnomAD
rs1328901813	p.Phe397Leu	missense variant	-	NC_000019.10:g.15362221G>T	TOPMed,gnomAD
rs764482753	p.Arg398Gly	missense variant	-	NC_000019.10:g.15362220G>C	ExAC,gnomAD
rs764482753	p.Arg398Cys	missense variant	-	NC_000019.10:g.15362220G>A	ExAC,gnomAD
rs763283589	p.Arg398His	missense variant	-	NC_000019.10:g.15362219C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg398LeuPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.15362176_15362219TTTGCTTTGCAGATGCTTCTGGATCTCTTCGTCATCAAAGCTAC>-	NCI-TCGA
rs775782451	p.Asp401His	missense variant	-	NC_000019.10:g.15362211C>G	ExAC,gnomAD
rs775782451	p.Asp401Asn	missense variant	-	NC_000019.10:g.15362211C>T	ExAC,gnomAD
rs746292506	p.Asp402Glu	missense variant	-	NC_000019.10:g.15362206G>C	ExAC,TOPMed,gnomAD
rs776784836	p.Glu403Lys	missense variant	-	NC_000019.10:g.15362205C>T	ExAC,TOPMed,gnomAD
rs1276850016	p.Glu404Val	missense variant	-	NC_000019.10:g.15362201T>A	TOPMed
rs1399970440	p.Glu404Lys	missense variant	-	NC_000019.10:g.15362202C>T	TOPMed
rs1234707645	p.Gln406Lys	missense variant	-	NC_000019.10:g.15362196G>T	TOPMed
rs142110198	p.Gln406Arg	missense variant	-	NC_000019.10:g.15362195T>C	ESP,ExAC,TOPMed,gnomAD
rs61755985	p.Lys407Thr	missense variant	-	NC_000019.10:g.15362192T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61755985	p.Lys407Arg	missense variant	-	NC_000019.10:g.15362192T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772037464	p.Gln410Leu	missense variant	-	NC_000019.10:g.15362183T>A	ExAC,gnomAD
rs747991542	p.Lys412Arg	missense variant	-	NC_000019.10:g.15362177T>C	ExAC,TOPMed,gnomAD
COSM992167	p.Lys415ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.15362167_15362168TT>-	NCI-TCGA Cosmic
rs1287957262	p.Lys415Glu	missense variant	-	NC_000019.10:g.15362169T>C	TOPMed
rs754959616	p.Glu416Gly	missense variant	-	NC_000019.10:g.15362165T>C	ExAC,gnomAD
rs1215099372	p.Glu416Gln	missense variant	-	NC_000019.10:g.15362166C>G	gnomAD
NCI-TCGA novel	p.Thr417Asn	missense variant	-	NC_000019.10:g.15362162G>T	NCI-TCGA
rs753707156	p.Leu418Val	missense variant	-	NC_000019.10:g.15362160G>C	ExAC,TOPMed,gnomAD
rs755547911	p.Arg419Gln	missense variant	-	NC_000019.10:g.15362156C>T	ExAC,TOPMed,gnomAD
rs200109371	p.Arg419Trp	missense variant	-	NC_000019.10:g.15362157G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750125258	p.Ser422Arg	missense variant	-	NC_000019.10:g.15362146G>T	ExAC,TOPMed,gnomAD
rs750125258	p.Ser422Arg	missense variant	-	NC_000019.10:g.15362146G>C	ExAC,TOPMed,gnomAD
rs767177827	p.Thr423Ser	missense variant	-	NC_000019.10:g.15362144G>C	ExAC,gnomAD
rs761415408	p.Pro426His	missense variant	-	NC_000019.10:g.15362135G>T	ExAC
rs61757660	p.Asp427Asn	missense variant	-	NC_000019.10:g.15362133C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61757660	p.Asp427His	missense variant	-	NC_000019.10:g.15362133C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776997042	p.Val430Met	missense variant	-	NC_000019.10:g.15362124C>T	ExAC,TOPMed,gnomAD
rs776997042	p.Val430Leu	missense variant	-	NC_000019.10:g.15362124C>A	ExAC,TOPMed,gnomAD
COSM3970768	p.Val438Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15361813C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys442Asn	missense variant	-	NC_000019.10:g.15361799C>G	NCI-TCGA
NCI-TCGA novel	p.Lys443Thr	missense variant	-	NC_000019.10:g.15361797T>G	NCI-TCGA
NCI-TCGA novel	p.Ile444Met	missense variant	-	NC_000019.10:g.15361793A>C	NCI-TCGA
rs536847592	p.Arg447Trp	missense variant	-	NC_000019.10:g.15361786G>A	1000Genomes,ExAC,gnomAD
rs201453989	p.Arg447Gln	missense variant	-	NC_000019.10:g.15361785C>T	ExAC,TOPMed,gnomAD
rs754160659	p.Arg448His	missense variant	-	NC_000019.10:g.15361782C>T	ExAC,TOPMed,gnomAD
rs758017011	p.Arg448Cys	missense variant	-	NC_000019.10:g.15361783G>A	ExAC,TOPMed,gnomAD
rs1254665162	p.Glu450Asp	missense variant	-	NC_000019.10:g.15361775T>A	TOPMed
rs1312940124	p.Glu450Lys	missense variant	-	NC_000019.10:g.15361777C>T	TOPMed
rs1218925466	p.Leu451Ser	missense variant	-	NC_000019.10:g.15361773A>G	gnomAD
NCI-TCGA novel	p.Leu451Phe	missense variant	-	NC_000019.10:g.15361772C>G	NCI-TCGA
rs139715279	p.Glu453Gln	missense variant	-	NC_000019.10:g.15361768C>G	ESP,ExAC,gnomAD
rs1191921591	p.Glu455Lys	missense variant	-	NC_000019.10:g.15361762C>T	gnomAD
rs1263020783	p.Thr456Ile	missense variant	-	NC_000019.10:g.15361758G>A	TOPMed
NCI-TCGA novel	p.Ala457Val	missense variant	-	NC_000019.10:g.15361755G>A	NCI-TCGA
rs767746415	p.Ala457Thr	missense variant	-	NC_000019.10:g.15361756C>T	ExAC,TOPMed,gnomAD
rs761963157	p.Lys458Gln	missense variant	-	NC_000019.10:g.15361753T>G	ExAC,TOPMed,gnomAD
rs761963157	p.Lys458Glu	missense variant	-	NC_000019.10:g.15361753T>C	ExAC,TOPMed,gnomAD
rs113475650	p.Pro459Thr	missense variant	-	NC_000019.10:g.15361750G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374602063	p.Pro459Leu	missense variant	-	NC_000019.10:g.15361749G>A	ESP,TOPMed,gnomAD
rs184278305	p.Pro461Leu	missense variant	-	NC_000019.10:g.15361743G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201801143	p.Asp462Gly	missense variant	-	NC_000019.10:g.15361740T>C	1000Genomes
rs1450546468	p.Pro463Ala	missense variant	-	NC_000019.10:g.15361738G>C	TOPMed,gnomAD
rs1443202876	p.Pro463Leu	missense variant	-	NC_000019.10:g.15361737G>A	gnomAD
rs963109568	p.Phe464Leu	missense variant	-	NC_000019.10:g.15361733G>C	TOPMed,gnomAD
rs533062877	p.Gly466Glu	missense variant	-	NC_000019.10:g.15360978C>T	1000Genomes,ExAC,gnomAD
rs1295320581	p.Gly466Arg	missense variant	-	NC_000019.10:g.15361729C>T	TOPMed
rs1189963170	p.Ile467Thr	missense variant	-	NC_000019.10:g.15360975A>G	gnomAD
rs761408669	p.Gln469Arg	missense variant	-	NC_000019.10:g.15360969T>C	ExAC,gnomAD
rs962665377	p.His471Leu	missense variant	-	NC_000019.10:g.15360963T>A	TOPMed
rs748890822	p.Phe473Leu	missense variant	-	NC_000019.10:g.15360956G>C	ExAC,TOPMed,gnomAD
rs748890822	p.Phe473Leu	missense variant	-	NC_000019.10:g.15360956G>T	ExAC,TOPMed,gnomAD
rs768429460	p.Phe473Leu	missense variant	-	NC_000019.10:g.15360958A>G	ExAC,gnomAD
rs201828341	p.Ile476Met	missense variant	-	NC_000019.10:g.15360947G>C	ESP,ExAC,TOPMed,gnomAD
rs1340390312	p.His480Asp	missense variant	-	NC_000019.10:g.15360937G>C	gnomAD
rs758778668	p.Leu482Val	missense variant	-	NC_000019.10:g.15360931G>C	ExAC,TOPMed,gnomAD
COSM4074999	p.Cys484Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15360924C>T	NCI-TCGA Cosmic
rs1281399736	p.Asp485Asn	missense variant	-	NC_000019.10:g.15360922C>T	gnomAD
rs377455281	p.Met486Thr	missense variant	-	NC_000019.10:g.15360918A>G	ESP,ExAC,TOPMed,gnomAD
rs1166758130	p.Leu487Val	missense variant	-	NC_000019.10:g.15360916G>C	TOPMed,gnomAD
rs754057316	p.Gln491Lys	missense variant	-	NC_000019.10:g.15360904G>T	ExAC,TOPMed,gnomAD
rs766206242	p.Gln491Arg	missense variant	-	NC_000019.10:g.15360903T>C	ExAC,TOPMed,gnomAD
rs754057316	p.Gln491Glu	missense variant	-	NC_000019.10:g.15360904G>C	ExAC,TOPMed,gnomAD
COSM992163	p.Gln491Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.15360904G>A	NCI-TCGA Cosmic
rs762573325	p.Pro492Leu	missense variant	-	NC_000019.10:g.15360900G>A	ExAC,TOPMed,gnomAD
rs767522013	p.Gln493His	missense variant	-	NC_000019.10:g.15360896C>G	ExAC,gnomAD
rs774012866	p.Leu495Phe	missense variant	-	NC_000019.10:g.15360892G>A	ExAC,TOPMed,gnomAD
rs775251991	p.Arg497Gln	missense variant	-	NC_000019.10:g.15360885C>T	ExAC,TOPMed,gnomAD
rs762759792	p.Arg497Trp	missense variant	-	NC_000019.10:g.15360886G>A	ExAC,gnomAD
rs369955411	p.His500Arg	missense variant	-	NC_000019.10:g.15360876T>C	ESP,ExAC,TOPMed,gnomAD
rs773404765	p.Val502Met	missense variant	-	NC_000019.10:g.15360871C>T	ExAC,TOPMed,gnomAD
rs748593622	p.Asn505Ser	missense variant	-	NC_000019.10:g.15360861T>C	ExAC,TOPMed,gnomAD
rs150603939	p.Asn505Asp	missense variant	-	NC_000019.10:g.15360862T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779034859	p.His506Arg	missense variant	-	NC_000019.10:g.15360858T>C	ExAC,gnomAD
rs1399340934	p.His506Gln	missense variant	-	NC_000019.10:g.15360857G>C	gnomAD
rs755021697	p.Asn507Ser	missense variant	-	NC_000019.10:g.15360855T>C	ExAC,gnomAD
rs917011855	p.Arg508Cys	missense variant	-	NC_000019.10:g.15360853G>A	TOPMed,gnomAD
rs1272082169	p.Arg508His	missense variant	-	NC_000019.10:g.15360852C>T	TOPMed
rs779932239	p.Leu510Phe	missense variant	-	NC_000019.10:g.15359060C>A	ExAC,TOPMed,gnomAD
rs756373724	p.Ala512Thr	missense variant	-	NC_000019.10:g.15359056C>T	ExAC,gnomAD
rs746067463	p.Glu513Gln	missense variant	-	NC_000019.10:g.15359053C>G	ExAC,TOPMed,gnomAD
rs531108041	p.Gln514His	missense variant	-	NC_000019.10:g.15359048C>A	1000Genomes,ExAC,gnomAD
rs757085860	p.Thr518Ile	missense variant	-	NC_000019.10:g.15359037G>A	ExAC,gnomAD
rs751596065	p.Ser519Thr	missense variant	-	NC_000019.10:g.15359034C>G	ExAC,gnomAD
rs1369399185	p.Leu520Val	missense variant	-	NC_000019.10:g.15359032G>C	TOPMed
rs1369399185	p.Leu520Phe	missense variant	-	NC_000019.10:g.15359032G>A	TOPMed
rs1407622749	p.His521Arg	missense variant	-	NC_000019.10:g.15359028T>C	TOPMed
rs764149757	p.Val522Met	missense variant	-	NC_000019.10:g.15359026C>T	ExAC,gnomAD
rs758367334	p.Lys524Arg	missense variant	-	NC_000019.10:g.15359019T>C	ExAC,gnomAD
rs1406016403	p.Leu527Val	missense variant	-	NC_000019.10:g.15359011A>C	gnomAD
COSM4848187	p.Leu527Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15359009C>G	NCI-TCGA Cosmic
rs76501168	p.Asn528Lys	missense variant	-	NC_000019.10:g.15359006G>T	ExAC,gnomAD
rs764590480	p.His531Asn	missense variant	-	NC_000019.10:g.15358999G>T	ExAC,TOPMed
rs1227485832	p.Ile532Thr	missense variant	-	NC_000019.10:g.15358995A>G	TOPMed
rs141841312	p.Val533Ala	missense variant	-	NC_000019.10:g.15358992A>G	ESP,ExAC,TOPMed,gnomAD
COSM1480708	p.Lys534Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15358990T>G	NCI-TCGA Cosmic
COSM3529620	p.Lys534Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15358989T>C	NCI-TCGA Cosmic
rs1186425037	p.Glu537Gln	missense variant	-	NC_000019.10:g.15358981C>G	gnomAD
rs1486903911	p.Lys538Gln	missense variant	-	NC_000019.10:g.15358978T>G	gnomAD
rs113780353	p.Tyr539Cys	missense variant	-	NC_000019.10:g.15358974T>C	ExAC
rs1395733803	p.Glu543Lys	missense variant	-	NC_000019.10:g.15355367C>T	gnomAD
rs1446120256	p.Asp544Ala	missense variant	-	NC_000019.10:g.15355363T>G	gnomAD
rs1180884860	p.Thr547Ile	missense variant	-	NC_000019.10:g.15355354G>A	gnomAD
rs1187703234	p.Val551Ile	missense variant	-	NC_000019.10:g.15355343C>T	gnomAD
rs748168148	p.Pro553Arg	missense variant	-	NC_000019.10:g.15355336G>C	ExAC,TOPMed
rs753296829	p.Gly557Glu	missense variant	-	NC_000019.10:g.15355324C>T	ExAC,gnomAD
rs138139780	p.Gly557Arg	missense variant	-	NC_000019.10:g.15355325C>T	ESP,ExAC
NCI-TCGA novel	p.Asp558Tyr	missense variant	-	NC_000019.10:g.15355322C>A	NCI-TCGA
rs1203564968	p.Asp559Asn	missense variant	-	NC_000019.10:g.15355319C>T	gnomAD
rs1198090630	p.Asn560Ser	missense variant	-	NC_000019.10:g.15355315T>C	TOPMed
rs1215201215	p.Glu564Asp	missense variant	-	NC_000019.10:g.15355302C>G	gnomAD
rs1243576266	p.Glu564Lys	missense variant	-	NC_000019.10:g.15355304C>T	gnomAD
rs1347298709	p.Asp565Tyr	missense variant	-	NC_000019.10:g.15355301C>A	gnomAD
rs147009364	p.Lys567Arg	missense variant	-	NC_000019.10:g.15355294T>C	ESP,TOPMed
rs1301495550	p.Glu568Gly	missense variant	-	NC_000019.10:g.15355291T>C	gnomAD
rs755822440	p.Thr569Pro	missense variant	-	NC_000019.10:g.15355289T>G	ExAC,gnomAD
rs764484665	p.Pro570Ser	missense variant	-	NC_000019.10:g.15355286G>A	ExAC,TOPMed,gnomAD
rs764484665	p.Pro570Thr	missense variant	-	NC_000019.10:g.15355286G>T	ExAC,TOPMed,gnomAD
rs1297892805	p.Val573Ala	missense variant	-	NC_000019.10:g.15355276A>G	gnomAD
rs1440484198	p.Ala574Asp	missense variant	-	NC_000019.10:g.15355273G>T	gnomAD
rs1472042670	p.Ala575Thr	missense variant	-	NC_000019.10:g.15355271C>T	TOPMed
rs765693748	p.Ala575Glu	missense variant	-	NC_000019.10:g.15355270G>T	ExAC,TOPMed,gnomAD
rs765693748	p.Ala575Val	missense variant	-	NC_000019.10:g.15355270G>A	ExAC,TOPMed,gnomAD
rs1394013997	p.Asp576Val	missense variant	-	NC_000019.10:g.15355267T>A	gnomAD
rs138652097	p.Val577Ile	missense variant	-	NC_000019.10:g.15355265C>T	ESP,ExAC,TOPMed,gnomAD
rs909104923	p.Leu578Val	missense variant	-	NC_000019.10:g.15355262A>C	TOPMed
rs773549065	p.Glu580Gly	missense variant	-	NC_000019.10:g.15355255T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu580Lys	missense variant	-	NC_000019.10:g.15355256C>T	NCI-TCGA
rs200241726	p.Val581Ala	missense variant	-	NC_000019.10:g.15355252A>G	ExAC,TOPMed,gnomAD
rs747928960	p.Ile582Met	missense variant	-	NC_000019.10:g.15355248A>C	ExAC,TOPMed,gnomAD
rs774133689	p.Thr583Ile	missense variant	-	NC_000019.10:g.15355246G>A	ExAC,gnomAD
rs1278366290	p.Ala584Glu	missense variant	-	NC_000019.10:g.15355243G>T	gnomAD
rs1485376392	p.Ala584Pro	missense variant	-	NC_000019.10:g.15355244C>G	TOPMed,gnomAD
rs375385159	p.Val586Glu	missense variant	-	NC_000019.10:g.15355237A>T	ESP,ExAC,gnomAD
rs749235652	p.Val586Met	missense variant	-	NC_000019.10:g.15355238C>T	ExAC,gnomAD
rs749235652	p.Val586Leu	missense variant	-	NC_000019.10:g.15355238C>G	ExAC,gnomAD
rs978900886	p.Ala588Val	missense variant	-	NC_000019.10:g.15355231G>A	TOPMed,gnomAD
rs755591473	p.Ala588Ser	missense variant	-	NC_000019.10:g.15355232C>A	ExAC,gnomAD
rs150076099	p.Val589Ile	missense variant	-	NC_000019.10:g.15355229C>T	ESP,ExAC,TOPMed,gnomAD
rs756893665	p.Val589Ala	missense variant	-	NC_000019.10:g.15355228A>G	ExAC,gnomAD
rs576285040	p.Gly591Arg	missense variant	-	NC_000019.10:g.15355223C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM1304109	p.Gly593Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15355217C>T	NCI-TCGA Cosmic
rs765576072	p.Ala594Gly	missense variant	-	NC_000019.10:g.15355213G>C	ExAC,TOPMed,gnomAD
rs765576072	p.Ala594Val	missense variant	-	NC_000019.10:g.15355213G>A	ExAC,TOPMed,gnomAD
rs765576072	p.Ala594Glu	missense variant	-	NC_000019.10:g.15355213G>T	ExAC,TOPMed,gnomAD
rs921338802	p.Pro595Ala	missense variant	-	NC_000019.10:g.15355211G>C	TOPMed
rs61757661	p.Ala596Thr	missense variant	-	NC_000019.10:g.15355208C>T	ExAC,TOPMed,gnomAD
rs773387673	p.Ser599Arg	missense variant	-	NC_000019.10:g.15355199T>G	ExAC,gnomAD
rs767857353	p.Ser600Thr	missense variant	-	NC_000019.10:g.15355195C>G	ExAC,gnomAD
rs774075327	p.Gly601Arg	missense variant	-	NC_000019.10:g.15355193C>T	ExAC,TOPMed,gnomAD
rs1260330774	p.Gly601Glu	missense variant	-	NC_000019.10:g.15355192C>T	gnomAD
rs774075327	p.Gly601Arg	missense variant	-	NC_000019.10:g.15355193C>G	ExAC,TOPMed,gnomAD
rs370347087	p.Glu602Asp	missense variant	-	NC_000019.10:g.15355188C>G	ESP,gnomAD
rs768497457	p.Glu602Gln	missense variant	-	NC_000019.10:g.15355190C>G	ExAC,gnomAD
rs1271119677	p.Pro603Ser	missense variant	-	NC_000019.10:g.15355187G>A	gnomAD
rs375669146	p.Pro603Leu	missense variant	-	NC_000019.10:g.15355186G>A	ESP,ExAC,TOPMed,gnomAD
rs745410158	p.Asp606Glu	missense variant	-	NC_000019.10:g.15355176G>C	ExAC,TOPMed,gnomAD
rs745410158	p.Asp606Glu	missense variant	-	NC_000019.10:g.15355176G>T	ExAC,TOPMed,gnomAD
rs374086322	p.Glu607Lys	missense variant	-	NC_000019.10:g.15355175C>T	ESP,ExAC,TOPMed,gnomAD
rs146444610	p.Glu607Ala	missense variant	-	NC_000019.10:g.15355174T>G	ESP,gnomAD
rs376050255	p.Pro609Ser	missense variant	-	NC_000019.10:g.15355169G>A	ESP,ExAC,TOPMed,gnomAD
rs950616458	p.Thr610Ser	missense variant	-	NC_000019.10:g.15355166T>A	TOPMed,gnomAD
rs950616458	p.Thr610Ala	missense variant	-	NC_000019.10:g.15355166T>C	TOPMed,gnomAD
rs144064099	p.Thr610Met	missense variant	-	NC_000019.10:g.15355165G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755337627	p.Asp611Tyr	missense variant	-	NC_000019.10:g.15355163C>A	ExAC,gnomAD
rs375883591	p.Ala613Val	missense variant	-	NC_000019.10:g.15355156G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala613Ser	missense variant	-	NC_000019.10:g.15355157C>A	NCI-TCGA
rs200385214	p.Gly616Ser	missense variant	-	NC_000019.10:g.15355148C>T	ExAC,TOPMed,gnomAD
rs767626174	p.Gly616Asp	missense variant	-	NC_000019.10:g.15355147C>T	ExAC,TOPMed,gnomAD
rs1213418255	p.Ser617Asn	missense variant	-	NC_000019.10:g.15355144C>T	gnomAD
rs1234503786	p.Asp618Gly	missense variant	-	NC_000019.10:g.15355141T>C	gnomAD
rs751777249	p.Asp618Asn	missense variant	-	NC_000019.10:g.15355142C>T	ExAC,gnomAD
rs1294151965	p.Gln620Ter	stop gained	-	NC_000019.10:g.15355136G>A	gnomAD
rs571638097	p.Glu622Lys	missense variant	-	NC_000019.10:g.15355130C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs571638097	p.Glu622Gln	missense variant	-	NC_000019.10:g.15355130C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs775222031	p.Gln623Ter	stop gained	-	NC_000019.10:g.15355127G>A	ExAC,gnomAD
rs1044518760	p.Pro630Leu	missense variant	-	NC_000019.10:g.15355105G>A	TOPMed
rs148784064	p.Thr633Arg	missense variant	-	NC_000019.10:g.15355096G>C	ESP,ExAC,gnomAD
rs148784064	p.Thr633Met	missense variant	-	NC_000019.10:g.15355096G>A	ESP,ExAC,gnomAD
rs770469145	p.His635Pro	missense variant	-	NC_000019.10:g.15355090T>G	ExAC,gnomAD
rs1160119484	p.Glu636Lys	missense variant	-	NC_000019.10:g.15355088C>T	TOPMed
rs777457097	p.Val639Ile	missense variant	-	NC_000019.10:g.15355079C>T	ExAC,TOPMed,gnomAD
rs1392876105	p.Lys641Gln	missense variant	-	NC_000019.10:g.15355073T>G	TOPMed
rs1193297378	p.Arg643Thr	missense variant	-	NC_000019.10:g.15355066C>G	gnomAD
rs1467408566	p.Ala646Val	missense variant	-	NC_000019.10:g.15355057G>A	TOPMed,gnomAD
rs771586432	p.Glu648Gly	missense variant	-	NC_000019.10:g.15355051T>C	ExAC,gnomAD
COSM709702	p.Glu648Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15355052C>T	NCI-TCGA Cosmic
rs1214709424	p.Ala649Gly	missense variant	-	NC_000019.10:g.15355048G>C	gnomAD
rs1368833958	p.Ala649Thr	missense variant	-	NC_000019.10:g.15355049C>T	TOPMed
rs780508322	p.Asn651Lys	missense variant	-	NC_000019.10:g.15355041A>T	ExAC,gnomAD
rs569129129	p.Ala653Thr	missense variant	-	NC_000019.10:g.15355037C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs145418809	p.Glu654Lys	missense variant	-	NC_000019.10:g.15355034C>T	ESP,ExAC,TOPMed,gnomAD
rs764405941	p.Ala658Ser	missense variant	-	NC_000019.10:g.15355022C>A	ExAC,TOPMed,gnomAD
rs764405941	p.Ala658Thr	missense variant	-	NC_000019.10:g.15355022C>T	ExAC,TOPMed,gnomAD
rs1387158337	p.Glu659Gln	missense variant	-	NC_000019.10:g.15355019C>G	TOPMed,gnomAD
rs763092973	p.Ala660Thr	missense variant	-	NC_000019.10:g.15355016C>T	ExAC,gnomAD
rs947540357	p.Glu661Gln	missense variant	-	NC_000019.10:g.15355013C>G	TOPMed
rs752498693	p.Ser662Gly	missense variant	-	NC_000019.10:g.15355010T>C	ExAC,gnomAD
rs752498693	p.Ser662Arg	missense variant	-	NC_000019.10:g.15355010T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala663Gly	missense variant	-	NC_000019.10:g.15355006G>C	NCI-TCGA
rs1173249581	p.Gln664Pro	missense variant	-	NC_000019.10:g.15355003T>G	gnomAD
rs1390931974	p.Gln664Glu	missense variant	-	NC_000019.10:g.15355004G>C	gnomAD
VAR_036534	p.Gln664His	Missense	-	-	UniProt
rs1397131057	p.Arg666Gly	missense variant	-	NC_000019.10:g.15354998T>C	gnomAD
COSM460040	p.Arg666Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15354997C>G	NCI-TCGA Cosmic
rs369631726	p.Arg666Lys	missense variant	-	NC_000019.10:g.15354997C>T	ESP,ExAC,TOPMed,gnomAD
rs776598548	p.Val667Ile	missense variant	-	NC_000019.10:g.15354995C>T	ExAC,gnomAD
rs1259154452	p.Val667Gly	missense variant	-	NC_000019.10:g.15354994A>C	gnomAD
rs760265810	p.Pro671Leu	missense variant	-	NC_000019.10:g.15354982G>A	ExAC
rs1481319848	p.Ala672Val	missense variant	-	NC_000019.10:g.15354979G>A	gnomAD
rs560315178	p.Ala674Val	missense variant	-	NC_000019.10:g.15354973G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs139907510	p.Ala674Ser	missense variant	-	NC_000019.10:g.15354974C>A	ESP,TOPMed,gnomAD
rs139907510	p.Ala674Thr	missense variant	-	NC_000019.10:g.15354974C>T	ESP,TOPMed,gnomAD
rs1369954322	p.Asp675Asn	missense variant	-	NC_000019.10:g.15354971C>T	TOPMed
rs1305220315	p.Val678Leu	missense variant	-	NC_000019.10:g.15354962C>A	gnomAD
rs1285760515	p.Gln680Pro	missense variant	-	NC_000019.10:g.15354955T>G	gnomAD
COSM4074997	p.Thr681Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15354953T>C	NCI-TCGA Cosmic
rs201831883	p.Asp682Glu	missense variant	-	NC_000019.10:g.15354948A>C	ExAC,TOPMed,gnomAD
rs1233669054	p.Asp682Val	missense variant	-	NC_000019.10:g.15354949T>A	gnomAD
rs768511127	p.Ala683Gly	missense variant	-	NC_000019.10:g.15354946G>C	ExAC,TOPMed,gnomAD
rs781734939	p.Ser685Tyr	missense variant	-	NC_000019.10:g.15354940G>T	ExAC,TOPMed,gnomAD
rs781734939	p.Ser685Cys	missense variant	-	NC_000019.10:g.15354940G>C	ExAC,TOPMed,gnomAD
rs781734939	p.Ser685Phe	missense variant	-	NC_000019.10:g.15354940G>A	ExAC,TOPMed,gnomAD
rs758673111	p.Ala688Gly	missense variant	-	NC_000019.10:g.15354931G>C	ExAC,gnomAD
rs749222352	p.Ala688Thr	missense variant	-	NC_000019.10:g.15354932C>T	ExAC,gnomAD
rs145842466	p.Val689Ile	missense variant	-	NC_000019.10:g.15354929C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs765056046	p.Pro690Leu	missense variant	-	NC_000019.10:g.15354925G>A	ExAC,gnomAD
rs1315326512	p.Thr691Arg	missense variant	-	NC_000019.10:g.15354922G>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004352	Autistic Disorder	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	UNIPROT
C0041696	Unipolar Depression	disease	BEFREE;PSYGENET
C1269683	Major Depressive Disorder	disease	BEFREE;PSYGENET

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003690	double-stranded DNA binding	IEA
GO:0003723	RNA binding	HDA
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IEA
GO:0034237	protein kinase A regulatory subunit binding	IPI
GO:0034237	protein kinase A regulatory subunit binding	IBA
GO:0042826	histone deacetylase binding	IDA
GO:0051059	NF-kappaB binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000278	mitotic cell cycle	TAS
GO:0007076	mitotic chromosome condensation	IEA
GO:0007165	signal transduction	TAS
GO:0015031	protein transport	IEA
GO:0031065	positive regulation of histone deacetylation	IMP
GO:0032720	negative regulation of tumor necrosis factor production	IEA
GO:0033127	regulation of histone phosphorylation	IMP
GO:0044839	cell cycle G2/M phase transition	IMP
GO:0045087	innate immune response	IEA
GO:0071222	cellular response to lipopolysaccharide	IEA
GO:0071380	cellular response to prostaglandin E stimulus	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000793	condensed chromosome	IEA
GO:0001939	female pronucleus	IEA
GO:0005634	nucleus	TAS
GO:0005654	nucleoplasm	IDA
GO:0005730	nucleolus	IDA
GO:0005739	mitochondrion	IEA
GO:0005794	Golgi apparatus	IEA
GO:0016020	membrane	HDA
GO:0016363	nuclear matrix	ISS
GO:0016363	nuclear matrix	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in decreased expression of AKAP8 mRNA	19162173
C477694	2,2',4,4',5-brominated diphenyl ether	2,2',4,4',5-brominated diphenyl ether results in decreased expression of AKAP8 protein	19954255
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of AKAP8 mRNA	31388691
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of AKAP8 mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of AKAP8 mRNA	21346803
C572491	3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol results in decreased expression of AKAP8 protein	26194647
C028451	3,4,3',4'-tetrachlorobiphenyl	3,4,3',4'-tetrachlorobiphenyl inhibits the reaction [Dietary Fats results in increased expression of AKAP8 mRNA]	19467301
D000082	Acetaminophen	Acetaminophen affects the expression of AKAP8 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of AKAP8 exon	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of AKAP8 mRNA	19770486
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of AKAP8 mRNA	16483693
D001151	Arsenic	Arsenic affects the methylation of AKAP8 gene	25304211
C030935	benz(a)anthracene	benz(a)anthracene results in increased expression of AKAP8 mRNA	26377693
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of AKAP8 mRNA	22228805
C006780	bisphenol A	bisphenol A results in increased expression of AKAP8 mRNA	25181051
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of AKAP8 mRNA	31150632
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of AKAP8 mRNA	23650126
D002945	Cisplatin	Cisplatin results in increased phosphorylation of AKAP8 protein	22006019
D002994	Clofibrate	Clofibrate affects the expression of AKAP8 mRNA	17585979
D002994	Clofibrate	Clofibrate results in decreased expression of AKAP8 mRNA	12851107
D003300	Copper	Copper results in increased expression of AKAP8 mRNA	30556269
D019327	Copper Sulfate	Copper Sulfate results in increased expression of AKAP8 mRNA	19549813
D003520	Cyclophosphamide	Cyclophosphamide results in increased expression of AKAP8 mRNA	27281708
D016572	Cyclosporine	Cyclosporine results in increased expression of AKAP8 mRNA	19770486
D004041	Dietary Fats	3,4,3',4'-tetrachlorobiphenyl inhibits the reaction [Dietary Fats results in increased expression of AKAP8 mRNA]	19467301
D004041	Dietary Fats	Dietary Fats results in increased expression of AKAP8 mRNA	19467301
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of AKAP8 mRNA	20360939
D004317	Doxorubicin	Doxorubicin results in decreased expression of AKAP8 mRNA	29803840
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of AKAP8 protein	23301498
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of AKAP8 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of AKAP8 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of AKAP8 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of AKAP8 mRNA	17557909
D005485	Flutamide	Flutamide results in increased expression of AKAP8 mRNA	24136188
D005839	Gentamicins	Gentamicins results in increased expression of AKAP8 mRNA	22061828
C008261	lead acetate	lead acetate results in increased methylation of AKAP8 gene	29571894
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of AKAP8 mRNA	25613284
D008694	Methamphetamine	Methamphetamine affects the expression of AKAP8 mRNA	29802913
C000622638	MLN7243	MLN7243 results in decreased sumoylation of AKAP8 protein	31285264
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in increased expression of AKAP8 mRNA	31059758
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of AKAP8 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of AKAP8 mRNA	25554681
C006253	pirinixic acid	pirinixic acid results in increased expression of AKAP8 mRNA	12727805
D010936	Plant Extracts	Plant Extracts results in increased expression of AKAP8 mRNA	23557933
D011374	Progesterone	Progesterone results in increased expression of AKAP8 mRNA	23012394; 23018184;
D011374	Progesterone	Progesterone results in decreased expression of AKAP8 mRNA	18037150
D011372	Progestins	Progestins results in decreased expression of AKAP8 mRNA	19609016
D000077185	Resveratrol	Resveratrol results in decreased expression of AKAP8 protein	25505154
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of AKAP8 mRNA	25351596
D013629	Tamoxifen	Tamoxifen affects the expression of AKAP8 mRNA	17555576
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of AKAP8 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of AKAP8 mRNA	17942748
C012589	trichostatin A	trichostatin A results in decreased expression of AKAP8 mRNA	24935251; 28542535;
D014635	Valproic Acid	Valproic Acid affects the expression of AKAP8 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of AKAP8 mRNA	22083351
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of AKAP8 gene	25560391
D000077337	Vorinostat	Vorinostat results in decreased expression of AKAP8 mRNA	22083351

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0963	Cytoplasm
KW-0238	DNA-binding
KW-0391	Immunity
KW-0399	Innate immunity
KW-1017	Isopeptide bond
KW-0479	Metal-binding
KW-0488	Methylation
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0653	Protein transport
KW-1185	Reference proteome
KW-0677	Repeat
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0813	Transport
KW-0832	Ubl conjugation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR007071	AKAP95
IPR034736	ZF_C2H2_AKAP95

PROSITE

PROSITE ID	PROSITE Term
PS51799	ZF_C2H2_AKAP95

Pfam

Pfam ID	Pfam Term
PF04988	AKAP95

Gene: AKAP8

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