CleftGeneDB-Search

Gene: ACSS2

Basic information

Tag	Content
Uniprot ID	Q9NR19; A6NE90; Q5QPH2; Q5QPH3; Q8N238; Q96EL0; Q9NQP7; Q9UJ15;
Entrez ID	55902
Genbank protein ID	AAH12172.1; AAF75064.1; BAC03849.1; EAW76248.1;
Genbank nucleotide ID	NM_018677.3; NM_001076552.2;
Ensembl protein ID	ENSP00000353804; ENSP00000253382;
Ensembl nucleotide ID	ENSG00000131069
Gene name	Acetyl-coenzyme A synthetase, cytoplasmic
Gene symbol	ACSS2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	27229527
Functional description	Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:10843999, PubMed:28003429). Acetate is the preferred substrate (PubMed:10843999, PubMed:28003429). Can also utilize propionate with a much lower affinity (By similarity).
Sequence	MGLPEERVRS GSGSRGQEEA GAGGRARSWS PPPEVSRSAH VPSLQRYREL HRRSVEEPRE 60 FWGDIAKEFY WKTPCPGPFL RYNFDVTKGK IFIEWMKGAT TNICYNVLDR NVHEKKLGDK 120 VAFYWEGNEP GETTQITYHQ LLVQVCQFSN VLRKQGIQKG DRVAIYMPMI PELVVAMLAC 180 ARIGALHSIV FAGFSSESLC ERILDSSCSL LITTDAFYRG EKLVNLKELA DEALQKCQEK 240 GFPVRCCIVV KHLGRAELGM GDSTSQSPPI KRSCPDVQIS WNQGIDLWWH ELMQEAGDEC 300 EPEWCDAEDP LFILYTSGST GKPKGVVHTV GGYMLYVATT FKYVFDFHAE DVFWCTADIG 360 WITGHSYVTY GPLANGATSV LFEGIPTYPD VNRLWSIVDK YKVTKFYTAP TAIRLLMKFG 420 DEPVTKHSRA SLQVLGTVGE PINPEAWLWY HRVVGAQRCP IVDTFWQTET GGHMLTPLPG 480 ATPMKPGSAT FPFFGVAPAI LNESGEELEG EAEGYLVFKQ PWPGIMRTVY GNHERFETTY 540 FKKFPGYYVT GDGCQRDQDG YYWITGRIDD MLNVSGHLLS TAEVESALVE HEAVAEAAVV 600 GHPHPVKGEC LYCFVTLCDG HTFSPKLTEE LKKQIREKIG PIATPDYIQN APGLPKTRSG 660 KIMRRVLRKI AQNDHDLGDM STVADPSVIS HLFSHRCLTI Q 701

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 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	Species	Evidence	Details
1:1 ortholog	ACSS2	506459	A7YWF1	Bos taurus	Prediction	More>>
1:1 ortholog	ACSS2		E2R0C6	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ACSS2	102169772	A0A452FVS4	Capra hircus	Prediction	More>>
1:1 ortholog	ACSS2	55902	Q9NR19	Homo sapiens	Publication	More>>
1:1 ortholog	Acss2	60525	Q9QXG4	Mus musculus	Prediction	More>>
1:1 ortholog	ACSS2		A0A2J8JYI9	Pan troglodytes	Prediction	More>>
1:1 ortholog	ACSS2		F1S4Y0	Sus scrofa	Prediction	More>>
1:1 ortholog	Acss2	311569	G3V9U0	Rattus norvegicus	Prediction	More>>
1:1 ortholog	acss2		Q6DHN4	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
ACSS2	rs59088485T>C (p.Val496Ala)	WES and Sanger sequencing	27229527

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1279065589	p.Gly2Glu	missense variant	-	NC_000020.11:g.34876650G>A	TOPMed
NCI-TCGA novel	p.Leu3Phe	missense variant	-	NC_000020.11:g.34876652C>T	NCI-TCGA
NCI-TCGA novel	p.Glu5Val	missense variant	-	NC_000020.11:g.34876659A>T	NCI-TCGA
rs758995393	p.Arg7Gln	missense variant	-	NC_000020.11:g.34876665G>A	ExAC,gnomAD
rs748766067	p.Arg7Trp	missense variant	-	NC_000020.11:g.34876664C>T	ExAC,TOPMed,gnomAD
rs1365991599	p.Arg9Gln	missense variant	-	NC_000020.11:g.34876671G>A	gnomAD
rs1388854975	p.Ser10Arg	missense variant	-	NC_000020.11:g.34876675C>G	TOPMed,gnomAD
rs1376745535	p.Gly11Asp	missense variant	-	NC_000020.11:g.34876677G>A	gnomAD
rs1302623716	p.Gly11Cys	missense variant	-	NC_000020.11:g.34876676G>T	TOPMed,gnomAD
rs1302623716	p.Gly11Ser	missense variant	-	NC_000020.11:g.34876676G>A	TOPMed,gnomAD
rs1238070469	p.Gly13Trp	missense variant	-	NC_000020.11:g.34876682G>T	gnomAD
rs1238070469	p.Gly13Arg	missense variant	-	NC_000020.11:g.34876682G>C	gnomAD
rs1157198999	p.Gly13Glu	missense variant	-	NC_000020.11:g.34876683G>A	gnomAD
NCI-TCGA novel	p.Arg15Leu	missense variant	-	NC_000020.11:g.34876689G>T	NCI-TCGA
rs1349205816	p.Arg15Trp	missense variant	-	NC_000020.11:g.34876688C>T	TOPMed
rs1411440695	p.Gly16Asp	missense variant	-	NC_000020.11:g.34876692G>A	TOPMed
rs1002793627	p.Gly16Ser	missense variant	-	NC_000020.11:g.34876691G>A	TOPMed
rs974483217	p.Gln17Arg	missense variant	-	NC_000020.11:g.34876695A>G	TOPMed
rs1343172168	p.Glu19Lys	missense variant	-	NC_000020.11:g.34876700G>A	TOPMed,gnomAD
rs1221191748	p.Ala20Val	missense variant	-	NC_000020.11:g.34876704C>T	gnomAD
rs921573601	p.Ala20Thr	missense variant	-	NC_000020.11:g.34876703G>A	TOPMed,gnomAD
rs1032387407	p.Gly21Arg	missense variant	-	NC_000020.11:g.34876706G>A	gnomAD
rs1418889032	p.Gly21Glu	missense variant	-	NC_000020.11:g.34876707G>A	gnomAD
rs1303664140	p.Ala22Thr	missense variant	-	NC_000020.11:g.34876709G>A	gnomAD
rs1192672353	p.Ala26Val	missense variant	-	NC_000020.11:g.34876722C>T	gnomAD
rs1438946661	p.Arg27Trp	missense variant	-	NC_000020.11:g.34876724C>T	gnomAD
rs747486877	p.Arg27Pro	missense variant	-	NC_000020.11:g.34876725G>C	ExAC,TOPMed,gnomAD
rs1400761294	p.Ser28Gly	missense variant	-	NC_000020.11:g.34876727A>G	gnomAD
rs776841902	p.Trp29Cys	missense variant	-	NC_000020.11:g.34876732G>T	ExAC,TOPMed,gnomAD
rs771388973	p.Trp29Leu	missense variant	-	NC_000020.11:g.34876731G>T	ExAC,TOPMed,gnomAD
rs771388973	p.Trp29Ser	missense variant	-	NC_000020.11:g.34876731G>C	ExAC,TOPMed,gnomAD
rs1198200704	p.Ser30Pro	missense variant	-	NC_000020.11:g.34876733T>C	TOPMed
rs1294423790	p.Ser30Cys	missense variant	-	NC_000020.11:g.34876734C>G	gnomAD
rs746111837	p.Pro32Leu	missense variant	-	NC_000020.11:g.34876740C>T	ExAC,TOPMed,gnomAD
rs940632186	p.Glu34Gly	missense variant	-	NC_000020.11:g.34876746A>G	TOPMed
rs965269016	p.Arg37Gly	missense variant	-	NC_000020.11:g.34876754C>G	gnomAD
rs775580200	p.Ser38Pro	missense variant	-	NC_000020.11:g.34876757T>C	ExAC,gnomAD
rs1227783416	p.His40Asp	missense variant	-	NC_000020.11:g.34876763C>G	TOPMed,gnomAD
rs921087686	p.His40Gln	missense variant	-	NC_000020.11:g.34876765C>A	TOPMed,gnomAD
rs146486104	p.Pro42Thr	missense variant	-	NC_000020.11:g.34876769C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs984380604	p.Gln45Arg	missense variant	-	NC_000020.11:g.34876779A>G	TOPMed,gnomAD
rs909607996	p.Arg48Gly	missense variant	-	NC_000020.11:g.34876787C>G	gnomAD
rs1413396382	p.Glu49Lys	missense variant	-	NC_000020.11:g.34876790G>A	TOPMed
rs1196725581	p.Leu50Gln	missense variant	-	NC_000020.11:g.34876794T>A	gnomAD
rs1422463906	p.His51Pro	missense variant	-	NC_000020.11:g.34876797A>C	TOPMed
rs764139474	p.Arg52Pro	missense variant	-	NC_000020.11:g.34876800G>C	ExAC,TOPMed,gnomAD
rs1223747729	p.Arg53Cys	missense variant	-	NC_000020.11:g.34876802C>T	gnomAD
rs1470224956	p.Arg53His	missense variant	-	NC_000020.11:g.34876803G>A	gnomAD
rs1442118622	p.Ser54Phe	missense variant	-	NC_000020.11:g.34876806C>T	TOPMed
rs895525657	p.Val55Leu	missense variant	-	NC_000020.11:g.34876808G>C	TOPMed,gnomAD
rs1178386329	p.Glu57Asp	missense variant	-	NC_000020.11:g.34876816G>C	TOPMed
rs1456746771	p.Arg59Gln	missense variant	-	NC_000020.11:g.34876821G>A	TOPMed
rs1483937871	p.Phe61Leu	missense variant	-	NC_000020.11:g.34882798C>A	gnomAD
rs1188279477	p.Ile65Val	missense variant	-	NC_000020.11:g.34882808A>G	gnomAD
rs757644302	p.Lys67Thr	missense variant	-	NC_000020.11:g.34882815A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu68AspPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.34882818A>-	NCI-TCGA
rs1441715187	p.Glu68Ala	missense variant	-	NC_000020.11:g.34882818A>C	TOPMed
rs781621444	p.Glu68Gln	missense variant	-	NC_000020.11:g.34882817G>C	ExAC,gnomAD
rs746176589	p.Phe69Cys	missense variant	-	NC_000020.11:g.34882821T>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe69Ile	missense variant	-	NC_000020.11:g.34882820T>A	NCI-TCGA
rs1420867059	p.Trp71Ter	stop gained	-	NC_000020.11:g.34882828G>A	gnomAD
rs1354566383	p.Lys72Asn	missense variant	-	NC_000020.11:g.34882831G>C	TOPMed,gnomAD
rs1338712729	p.Thr73Ala	missense variant	-	NC_000020.11:g.34882832A>G	TOPMed
rs1453477111	p.Pro76Ser	missense variant	-	NC_000020.11:g.34882841C>T	TOPMed
rs1443809525	p.Gly77Val	missense variant	-	NC_000020.11:g.34882845G>T	gnomAD
rs1405208734	p.Pro78Ala	missense variant	-	NC_000020.11:g.34882847C>G	TOPMed
rs60379405	p.Arg81Trp	missense variant	-	NC_000020.11:g.34882856C>T	ESP,ExAC,TOPMed,gnomAD
rs57031852	p.Arg81Gln	missense variant	-	NC_000020.11:g.34882857G>A	TOPMed,gnomAD
rs57031852	p.Arg81Pro	missense variant	-	NC_000020.11:g.34882857G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr82ThrPheSerTerUnk	frameshift	-	NC_000020.11:g.34882857G>-	NCI-TCGA
rs768784749	p.Tyr82Phe	missense variant	-	NC_000020.11:g.34882860A>T	ExAC,gnomAD
rs768784749	p.Tyr82Cys	missense variant	-	NC_000020.11:g.34882860A>G	ExAC,gnomAD
COSM1026125	p.Asn83Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34882863A>C	NCI-TCGA Cosmic
rs1468271250	p.Val86Glu	missense variant	-	NC_000020.11:g.34882872T>A	TOPMed
rs768795451	p.Val86Met	missense variant	-	NC_000020.11:g.34882871G>A	ExAC,TOPMed,gnomAD
rs761827348	p.Lys88Glu	missense variant	-	NC_000020.11:g.34882877A>G	ExAC,TOPMed,gnomAD
rs771840227	p.Ile91Thr	missense variant	-	NC_000020.11:g.34882887T>C	ExAC,gnomAD
rs139489319	p.Ile93Thr	missense variant	-	NC_000020.11:g.34882893T>C	ESP,ExAC,TOPMed,gnomAD
rs1243022183	p.Glu94Lys	missense variant	-	NC_000020.11:g.34882895G>A	TOPMed
rs766242037	p.Met96Ile	missense variant	-	NC_000020.11:g.34882903G>A	ExAC,gnomAD
rs1210933452	p.Gly98Ala	missense variant	-	NC_000020.11:g.34882908G>C	gnomAD
rs57226725	p.Val107Leu	missense variant	-	NC_000020.11:g.34882934G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs976434947	p.Arg110Gly	missense variant	-	NC_000020.11:g.34882943C>G	TOPMed,gnomAD
rs757812388	p.Arg110Gln	missense variant	-	NC_000020.11:g.34882944G>A	ExAC,TOPMed,gnomAD
rs976434947	p.Arg110Ter	stop gained	-	NC_000020.11:g.34882943C>T	TOPMed,gnomAD
rs1319211666	p.Val112Ile	missense variant	-	NC_000020.11:g.34882949G>A	TOPMed,gnomAD
rs370742820	p.His113Arg	missense variant	-	NC_000020.11:g.34882953A>G	ExAC,TOPMed,gnomAD
rs781504991	p.His113Tyr	missense variant	-	NC_000020.11:g.34882952C>T	ExAC,TOPMed,gnomAD
rs1369586635	p.Glu114Gln	missense variant	-	NC_000020.11:g.34882955G>C	gnomAD
rs1398746062	p.Glu114Asp	missense variant	-	NC_000020.11:g.34882957G>C	TOPMed
NCI-TCGA novel	p.Lys116Asn	missense variant	-	NC_000020.11:g.34882963G>T	NCI-TCGA
NCI-TCGA novel	p.Lys116Met	missense variant	-	NC_000020.11:g.34882962A>T	NCI-TCGA
rs140291665	p.Asp119Tyr	missense variant	-	NC_000020.11:g.34882970G>T	ESP,ExAC,TOPMed,gnomAD
rs780393103	p.Val121Ala	missense variant	-	NC_000020.11:g.34882977T>C	ExAC,gnomAD
rs144026390	p.Ala122Thr	missense variant	-	NC_000020.11:g.34882979G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768811930	p.Tyr124His	missense variant	-	NC_000020.11:g.34882985T>C	ExAC,TOPMed,gnomAD
rs1185661730	p.Trp125Arg	missense variant	-	NC_000020.11:g.34882988T>C	TOPMed,gnomAD
rs1464122167	p.Glu126Gly	missense variant	-	NC_000020.11:g.34913098A>G	gnomAD
NCI-TCGA novel	p.Gly127Ala	missense variant	-	NC_000020.11:g.34913101G>C	NCI-TCGA
NCI-TCGA novel	p.Gly127Ser	missense variant	-	NC_000020.11:g.34913100G>A	NCI-TCGA
rs758470721	p.Asn128Lys	missense variant	-	NC_000020.11:g.34913105T>A	ExAC,gnomAD
rs149416954	p.Asn128Ser	missense variant	-	NC_000020.11:g.34913104A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777891247	p.Pro130Ser	missense variant	-	NC_000020.11:g.34913109C>T	ExAC,gnomAD
rs746957154	p.Gly131Glu	missense variant	-	NC_000020.11:g.34913113G>A	ExAC,TOPMed,gnomAD
rs1352542401	p.Gly131Arg	missense variant	-	NC_000020.11:g.34913112G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu132ArgPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.34913112G>-	NCI-TCGA
rs1383096487	p.Glu132Lys	missense variant	-	NC_000020.11:g.34913115G>A	gnomAD
rs112876003	p.Thr133Ala	missense variant	-	NC_000020.11:g.34913118A>G	TOPMed,gnomAD
COSM1134551	p.Gln135Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34913124C>G	NCI-TCGA Cosmic
COSM3545582	p.Gln135Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.34913124C>T	NCI-TCGA Cosmic
rs374812849	p.Ile136Phe	missense variant	-	NC_000020.11:g.34913127A>T	ESP,ExAC,gnomAD
rs374812849	p.Ile136Val	missense variant	-	NC_000020.11:g.34913127A>G	ESP,ExAC,gnomAD
rs776598687	p.Leu141Phe	missense variant	-	NC_000020.11:g.34913142C>T	ExAC,gnomAD
rs1281210208	p.Val143Ile	missense variant	-	NC_000020.11:g.34913148G>A	gnomAD
rs1416244213	p.Val143Gly	missense variant	-	NC_000020.11:g.34913149T>G	TOPMed
COSM1136783	p.Val143Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34913148G>T	NCI-TCGA Cosmic
rs1355492547	p.Gln144His	missense variant	-	NC_000020.11:g.34913153A>C	TOPMed
rs183847650	p.Cys146Tyr	missense variant	-	NC_000020.11:g.34913158G>A	1000Genomes
rs369200323	p.Gln147Arg	missense variant	-	NC_000020.11:g.34913161A>G	ESP,ExAC,TOPMed,gnomAD
rs1262677546	p.Gln147Ter	stop gained	-	NC_000020.11:g.34913160C>T	gnomAD
rs369200323	p.Gln147Leu	missense variant	-	NC_000020.11:g.34913161A>T	ESP,ExAC,TOPMed,gnomAD
rs1205450854	p.Phe148Leu	missense variant	-	NC_000020.11:g.34913165C>A	gnomAD
rs1266608902	p.Ser149Gly	missense variant	-	NC_000020.11:g.34913166A>G	TOPMed,gnomAD
rs562270723	p.Asn150Ser	missense variant	-	NC_000020.11:g.34913170A>G	ExAC,TOPMed,gnomAD
COSM1411338	p.Leu152Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34913175C>A	NCI-TCGA Cosmic
rs530201978	p.Arg153Ter	stop gained	-	NC_000020.11:g.34913178C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763781277	p.Arg153Gln	missense variant	-	NC_000020.11:g.34913179G>A	ExAC,TOPMed,gnomAD
rs761178819	p.Lys154Arg	missense variant	-	NC_000020.11:g.34913182A>G	ExAC,TOPMed,gnomAD
rs1427036847	p.Gly156Asp	missense variant	-	NC_000020.11:g.34913393G>A	gnomAD
rs766834295	p.Gly156Arg	missense variant	-	NC_000020.11:g.34913187G>C	ExAC,gnomAD
rs761266966	p.Ile157Thr	missense variant	-	NC_000020.11:g.34913396T>C	ExAC,gnomAD
COSM1136784	p.Ile157Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34913395A>G	NCI-TCGA Cosmic
rs766981173	p.Lys159Thr	missense variant	-	NC_000020.11:g.34913402A>C	ExAC,gnomAD
rs57262888	p.Lys159Asn	missense variant	-	NC_000020.11:g.34913403G>C	1000Genomes,ExAC,gnomAD
rs760019903	p.Gly160Arg	missense variant	-	NC_000020.11:g.34913404G>A	ExAC,gnomAD
rs765529559	p.Asp161Asn	missense variant	-	NC_000020.11:g.34913407G>A	ExAC,TOPMed,gnomAD
rs370686336	p.Arg162Gln	missense variant	-	NC_000020.11:g.34913411G>A	ESP,ExAC,TOPMed,gnomAD
rs753037922	p.Arg162Ter	stop gained	-	NC_000020.11:g.34913410C>T	ExAC,TOPMed,gnomAD
rs764326377	p.Ile165Val	missense variant	-	NC_000020.11:g.34913419A>G	ExAC,gnomAD
rs377726493	p.Met167Ile	missense variant	-	NC_000020.11:g.34913427G>A	ESP,ExAC,TOPMed,gnomAD
rs1242168960	p.Pro168Ser	missense variant	-	NC_000020.11:g.34913428C>T	TOPMed
rs757455210	p.Met169Val	missense variant	-	NC_000020.11:g.34913431A>G	ExAC,gnomAD
rs939230074	p.Glu172Asp	missense variant	-	NC_000020.11:g.34913442G>C	TOPMed,gnomAD
rs781417915	p.Leu173Val	missense variant	-	NC_000020.11:g.34913443C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu173HisPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.34913442_34913460GCTTGTGGTGGCCATGCTG>-	NCI-TCGA
NCI-TCGA novel	p.Leu173Ile	missense variant	-	NC_000020.11:g.34913443C>A	NCI-TCGA
rs781417915	p.Leu173Phe	missense variant	-	NC_000020.11:g.34913443C>T	ExAC,TOPMed,gnomAD
rs1202349667	p.Ala179Thr	missense variant	-	NC_000020.11:g.34913461G>A	gnomAD
COSM3840825	p.Ala179Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34913461G>T	NCI-TCGA Cosmic
rs750444426	p.Cys180Tyr	missense variant	-	NC_000020.11:g.34913465G>A	ExAC,gnomAD
rs750444426	p.Cys180Ser	missense variant	-	NC_000020.11:g.34913465G>C	ExAC,gnomAD
rs112012777	p.Ala181Val	missense variant	-	NC_000020.11:g.34913468C>T	ESP,ExAC,TOPMed,gnomAD
rs946609628	p.Arg182Leu	missense variant	-	NC_000020.11:g.34913471G>T	TOPMed,gnomAD
rs956006658	p.Arg182Cys	missense variant	-	NC_000020.11:g.34913470C>T	TOPMed,gnomAD
rs946609628	p.Arg182His	missense variant	-	NC_000020.11:g.34913471G>A	TOPMed,gnomAD
rs575752611	p.Ile183Thr	missense variant	-	NC_000020.11:g.34913474T>C	ExAC,TOPMed,gnomAD
rs749073668	p.Ala185Ser	missense variant	-	NC_000020.11:g.34913479G>T	ExAC,TOPMed,gnomAD
rs1423542078	p.His187Asn	missense variant	-	NC_000020.11:g.34913485C>A	gnomAD
rs768218171	p.Ile189Thr	missense variant	-	NC_000020.11:g.34913492T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe191Leu	missense variant	-	NC_000020.11:g.34913755T>G	NCI-TCGA
rs774798428	p.Phe191Leu	missense variant	-	NC_000020.11:g.34913755T>A	ExAC,gnomAD
rs1218133018	p.Ala192Ser	missense variant	-	NC_000020.11:g.34913756G>T	gnomAD
rs371982555	p.Ser195Phe	missense variant	-	NC_000020.11:g.34913766C>T	ESP,ExAC,TOPMed,gnomAD
rs371982555	p.Ser195Tyr	missense variant	-	NC_000020.11:g.34913766C>A	ESP,ExAC,TOPMed,gnomAD
rs1188090775	p.Glu197Ter	stop gained	-	NC_000020.11:g.34913771G>T	TOPMed
rs143832046	p.Cys200Arg	missense variant	-	NC_000020.11:g.34913780T>C	ESP,ExAC,TOPMed,gnomAD
rs766341618	p.Arg202Trp	missense variant	-	NC_000020.11:g.34913786C>T	ExAC,gnomAD
rs753868628	p.Arg202Gln	missense variant	-	NC_000020.11:g.34913787G>A	ExAC,TOPMed,gnomAD
rs1199256301	p.Ile203Thr	missense variant	-	NC_000020.11:g.34913790T>C	TOPMed
rs1243216473	p.Asp205Glu	missense variant	-	NC_000020.11:g.34913797T>G	gnomAD
rs1192307164	p.Leu211Phe	missense variant	-	NC_000020.11:g.34913813C>T	gnomAD
rs1192307164	p.Leu211Val	missense variant	-	NC_000020.11:g.34913813C>G	gnomAD
rs765017042	p.Ile212Val	missense variant	-	NC_000020.11:g.34913816A>G	ExAC,TOPMed,gnomAD
rs752445483	p.Ile212Met	missense variant	-	NC_000020.11:g.34913818C>G	ExAC,gnomAD
rs758068442	p.Thr213Ile	missense variant	-	NC_000020.11:g.34913820C>T	ExAC
rs1158301843	p.Thr214Arg	missense variant	-	NC_000020.11:g.34913823C>G	gnomAD
NCI-TCGA novel	p.Phe217Leu	missense variant	-	NC_000020.11:g.34914103C>A	NCI-TCGA
rs1408505525	p.Tyr218Cys	missense variant	-	NC_000020.11:g.34914105A>G	gnomAD
rs1159351175	p.Tyr218His	missense variant	-	NC_000020.11:g.34914104T>C	TOPMed,gnomAD
rs751285866	p.Glu221Asp	missense variant	-	NC_000020.11:g.34914115A>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu221GlyPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.34914107_34914108insG	NCI-TCGA
rs758227933	p.Glu221Lys	missense variant	-	NC_000020.11:g.34914113G>A	ExAC,TOPMed,gnomAD
rs763870941	p.Glu221Gly	missense variant	-	NC_000020.11:g.34914114A>G	ExAC,TOPMed,gnomAD
rs1333475263	p.Val224Met	missense variant	-	NC_000020.11:g.34914122G>A	gnomAD
rs1444004108	p.Val224Glu	missense variant	-	NC_000020.11:g.34914123T>A	gnomAD
NCI-TCGA novel	p.Lys227Asn	missense variant	-	NC_000020.11:g.34914133G>T	NCI-TCGA
rs756804664	p.Glu228Gln	missense variant	-	NC_000020.11:g.34914134G>C	ExAC,gnomAD
rs1334643686	p.Glu228Val	missense variant	-	NC_000020.11:g.34914135A>T	gnomAD
rs745330850	p.Ala230Pro	missense variant	-	NC_000020.11:g.34914140G>C	ExAC,gnomAD
rs148166087	p.Asp231His	missense variant	-	NC_000020.11:g.34914143G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748637375	p.Glu232Lys	missense variant	-	NC_000020.11:g.34914146G>A	ExAC,TOPMed,gnomAD
rs772634638	p.Glu232Asp	missense variant	-	NC_000020.11:g.34914148G>C	ExAC,TOPMed,gnomAD
rs1182850525	p.Ala233Asp	missense variant	-	NC_000020.11:g.34914150C>A	gnomAD
rs568860603	p.Gln235Pro	missense variant	-	NC_000020.11:g.34914156A>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln235Ter	stop gained	-	NC_000020.11:g.34914155C>T	NCI-TCGA
rs140958101	p.Gln235Lys	missense variant	-	NC_000020.11:g.34914155C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys237Trp	missense variant	-	NC_000020.11:g.34914163T>G	NCI-TCGA
rs1419950372	p.Cys237Tyr	missense variant	-	NC_000020.11:g.34914162G>A	gnomAD
rs771014417	p.Gln238Ter	stop gained	-	NC_000020.11:g.34914164C>T	ExAC,TOPMed,gnomAD
rs747283889	p.Gly241Ser	missense variant	-	NC_000020.11:g.34914324G>A	ExAC,TOPMed,gnomAD
rs962936073	p.Gly241Val	missense variant	-	NC_000020.11:g.34914325G>T	TOPMed
rs1167920499	p.Pro243Leu	missense variant	-	NC_000020.11:g.34914331C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg245Ser	missense variant	-	NC_000020.11:g.34914338A>C	NCI-TCGA
rs1365243073	p.Cys246Arg	missense variant	-	NC_000020.11:g.34914339T>C	TOPMed
rs1432542079	p.Ile248Thr	missense variant	-	NC_000020.11:g.34914346T>C	TOPMed,gnomAD
rs769918130	p.Val250Ile	missense variant	-	NC_000020.11:g.34914351G>A	ExAC,gnomAD
rs1294090201	p.Lys251Arg	missense variant	-	NC_000020.11:g.34914355A>G	gnomAD
rs146376566	p.His252Tyr	missense variant	-	NC_000020.11:g.34914357C>T	ESP,TOPMed,gnomAD
rs61014667	p.His252Gln	missense variant	-	NC_000020.11:g.34914359C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201041169	p.Arg255Gln	missense variant	-	NC_000020.11:g.34914367G>A	ESP,ExAC,TOPMed,gnomAD
rs768438688	p.Arg255Trp	missense variant	-	NC_000020.11:g.34914366C>T	ExAC,TOPMed,gnomAD
rs761566182	p.Ala256Thr	missense variant	-	NC_000020.11:g.34914369G>A	ExAC,gnomAD
rs1012769449	p.Glu257Gly	missense variant	-	NC_000020.11:g.34914373A>G	TOPMed,gnomAD
rs202132151	p.Gly259Cys	missense variant	-	NC_000020.11:g.34914378G>T	ESP,ExAC,TOPMed,gnomAD
rs202132151	p.Gly259Ser	missense variant	-	NC_000020.11:g.34914378G>A	ESP,ExAC,TOPMed,gnomAD
rs760393289	p.Met260Arg	missense variant	-	NC_000020.11:g.34914382T>G	ExAC
rs765988627	p.Gly261Val	missense variant	-	NC_000020.11:g.34914385G>T	ExAC
rs753356876	p.Asp262Val	missense variant	-	NC_000020.11:g.34914388A>T	ExAC,gnomAD
rs778189150	p.Asp262Glu	missense variant	-	NC_000020.11:g.34914389C>A	ExAC
rs753356876	p.Asp262Ala	missense variant	-	NC_000020.11:g.34914388A>C	ExAC,gnomAD
rs778189150	p.Asp262Glu	missense variant	-	NC_000020.11:g.34914389C>G	ExAC
rs757629914	p.Ser263Pro	missense variant	-	NC_000020.11:g.34914390T>C	ExAC,gnomAD
rs1408664569	p.Ser263Phe	missense variant	-	NC_000020.11:g.34914391C>T	TOPMed,gnomAD
rs200209765	p.Thr264Pro	missense variant	-	NC_000020.11:g.34914393A>C	ExAC,gnomAD
rs746101673	p.Thr264Ile	missense variant	-	NC_000020.11:g.34914394C>T	ExAC,gnomAD
rs1052317790	p.Ser267Cys	missense variant	-	NC_000020.11:g.34914403C>G	TOPMed
rs1300807970	p.Ser267Pro	missense variant	-	NC_000020.11:g.34914402T>C	gnomAD
rs769938114	p.Pro268Leu	missense variant	-	NC_000020.11:g.34914406C>T	ExAC,gnomAD
rs756048003	p.Pro269GlnPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.34914403C>-	NCI-TCGA
rs780140788	p.Pro269Thr	missense variant	-	NC_000020.11:g.34914408C>A	ExAC,gnomAD
rs745681981	p.Ile270AsnPheSerTerUnk	frameshift	-	NC_000020.11:g.34914402_34914403insC	NCI-TCGA,NCI-TCGA Cosmic
rs1175161715	p.Ile270Val	missense variant	-	NC_000020.11:g.34914411A>G	gnomAD
rs1453512795	p.Ser273Leu	missense variant	-	NC_000020.11:g.34914421C>T	gnomAD
rs749319988	p.Ser273Pro	missense variant	-	NC_000020.11:g.34914420T>C	ExAC,gnomAD
rs761807252	p.Pro275Leu	missense variant	-	NC_000020.11:g.34914427C>T	ExAC
rs774197909	p.Pro275Ser	missense variant	-	NC_000020.11:g.34914426C>T	ExAC,gnomAD
rs770905099	p.Ile279Asn	missense variant	-	NC_000020.11:g.34919436T>A	ExAC,gnomAD
rs776510598	p.Trp281Arg	missense variant	-	NC_000020.11:g.34919441T>A	ExAC,gnomAD
rs374284589	p.Trp281Ter	stop gained	-	NC_000020.11:g.34919442G>A	ESP,ExAC,TOPMed,gnomAD
rs1172539374	p.Gly284Glu	missense variant	-	NC_000020.11:g.34919451G>A	gnomAD
rs1371242711	p.Asp286Glu	missense variant	-	NC_000020.11:g.34919458C>G	gnomAD
rs377509627	p.Leu287Phe	missense variant	-	NC_000020.11:g.34919461G>C	ESP,ExAC,TOPMed,gnomAD
rs774885512	p.Trp288Ter	stop gained	-	NC_000020.11:g.34919463G>A	ExAC,gnomAD
rs1311270218	p.Trp288Gly	missense variant	-	NC_000020.11:g.34919462T>G	gnomAD
rs1399974860	p.Trp289Gly	missense variant	-	NC_000020.11:g.34919465T>G	TOPMed
rs762575072	p.His290Tyr	missense variant	-	NC_000020.11:g.34919468C>T	ExAC,gnomAD
rs1338899071	p.His290Pro	missense variant	-	NC_000020.11:g.34919469A>C	TOPMed
rs768124613	p.Leu292Phe	missense variant	-	NC_000020.11:g.34919474C>T	ExAC,TOPMed,gnomAD
rs1212727137	p.Met293Arg	missense variant	-	NC_000020.11:g.34919478T>G	gnomAD
rs61359113	p.Cys300Ser	missense variant	-	NC_000020.11:g.34919498T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs111590432	p.Glu301Lys	missense variant	-	NC_000020.11:g.34919501G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1161715064	p.Glu301Gly	missense variant	-	NC_000020.11:g.34919502A>G	TOPMed
rs1454168130	p.Pro302Arg	missense variant	-	NC_000020.11:g.34919505C>G	gnomAD
rs202225735	p.Pro302Ser	missense variant	-	NC_000020.11:g.34919504C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766394936	p.Glu303Lys	missense variant	-	NC_000020.11:g.34919507G>A	ExAC,TOPMed,gnomAD
rs766394936	p.Glu303Gln	missense variant	-	NC_000020.11:g.34919507G>C	ExAC,TOPMed,gnomAD
rs1476831770	p.Cys305Trp	missense variant	-	NC_000020.11:g.34919515T>G	TOPMed
rs758614371	p.Cys305Arg	missense variant	-	NC_000020.11:g.34919513T>C	ExAC,gnomAD
rs1398837636	p.Ala307Val	missense variant	-	NC_000020.11:g.34919520C>T	TOPMed,gnomAD
rs180979040	p.Glu308Lys	missense variant	-	NC_000020.11:g.34919522G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1390923351	p.Asp309Asn	missense variant	-	NC_000020.11:g.34919525G>A	gnomAD
rs1172046978	p.Pro310Leu	missense variant	-	NC_000020.11:g.34919529C>T	gnomAD
NCI-TCGA novel	p.Pro310Thr	missense variant	-	NC_000020.11:g.34919528C>A	NCI-TCGA
rs1197235782	p.Tyr315Phe	missense variant	-	NC_000020.11:g.34919544A>T	TOPMed
rs1415962714	p.Tyr315Ter	stop gained	-	NC_000020.11:g.34919545C>A	gnomAD
rs745627480	p.Ser317Arg	missense variant	-	NC_000020.11:g.34919551T>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr320SerIleLysIle	insertion	-	NC_000020.11:g.34919559_34919560insAAGCATAAAAAT	NCI-TCGA
rs769454598	p.Pro323His	missense variant	-	NC_000020.11:g.34919568C>A	ExAC,gnomAD
rs779798790	p.Lys324Asn	missense variant	-	NC_000020.11:g.34919572G>T	ExAC,gnomAD
rs771447628	p.Gly325Cys	missense variant	-	NC_000020.11:g.34920539G>T	ExAC,gnomAD
rs1284486404	p.Val326Ala	missense variant	-	NC_000020.11:g.34920543T>C	gnomAD
rs777259588	p.Val327Ile	missense variant	-	NC_000020.11:g.34920545G>A	ExAC,gnomAD
rs1219941249	p.Thr329Ile	missense variant	-	NC_000020.11:g.34920552C>T	TOPMed
rs59126805	p.Val330Ala	missense variant	-	NC_000020.11:g.34920555T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149509417	p.Tyr333Cys	missense variant	-	NC_000020.11:g.34920564A>G	ESP,TOPMed
rs1392308716	p.Met334Val	missense variant	-	NC_000020.11:g.34920566A>G	TOPMed,gnomAD
rs1325088345	p.Met334Thr	missense variant	-	NC_000020.11:g.34920567T>C	TOPMed
rs375929217	p.Tyr336Cys	missense variant	-	NC_000020.11:g.34920573A>G	ESP,ExAC,TOPMed,gnomAD
rs375929217	p.Tyr336Phe	missense variant	-	NC_000020.11:g.34920573A>T	ESP,ExAC,TOPMed,gnomAD
rs200496887	p.Val337Leu	missense variant	-	NC_000020.11:g.34920575G>T	ExAC,gnomAD
rs1333569365	p.Thr339Ile	missense variant	-	NC_000020.11:g.34920582C>T	gnomAD
rs762024810	p.Thr340Ile	missense variant	-	NC_000020.11:g.34920585C>T	ExAC,gnomAD
rs60867847	p.Lys342Asn	missense variant	-	NC_000020.11:g.34920592G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1355195322	p.Val344Met	missense variant	-	NC_000020.11:g.34920596G>A	gnomAD
rs755950285	p.Phe345Val	missense variant	-	NC_000020.11:g.34920599T>G	ExAC,gnomAD
rs1424206893	p.Val352Met	missense variant	-	NC_000020.11:g.34920620G>A	TOPMed
NCI-TCGA novel	p.Trp354Ser	missense variant	-	NC_000020.11:g.34920627G>C	NCI-TCGA
rs1357167868	p.Trp354Cys	missense variant	-	NC_000020.11:g.34920628G>T	gnomAD
COSM4097825	p.Cys355Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34920629T>A	NCI-TCGA Cosmic
COSM1026128	p.Cys355Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34920630G>A	NCI-TCGA Cosmic
rs753593352	p.Thr356Met	missense variant	-	NC_000020.11:g.34920633C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp358Tyr	missense variant	-	NC_000020.11:g.34920638G>T	NCI-TCGA
NCI-TCGA novel	p.Gly360Val	missense variant	-	NC_000020.11:g.34920645G>T	NCI-TCGA
rs1250767480	p.Thr363Ile	missense variant	-	NC_000020.11:g.34920654C>T	TOPMed
rs201418139	p.Val368Ile	missense variant	-	NC_000020.11:g.34920668G>A	ESP,ExAC,TOPMed,gnomAD
rs1185754934	p.Thr369Ile	missense variant	-	NC_000020.11:g.34920672C>T	TOPMed,gnomAD
rs376839994	p.Tyr370His	missense variant	-	NC_000020.11:g.34920674T>C	ESP,ExAC,TOPMed,gnomAD
rs770159592	p.Tyr370Ter	stop gained	-	NC_000020.11:g.34920676T>G	ExAC,TOPMed,gnomAD
rs181102979	p.Tyr370Cys	missense variant	-	NC_000020.11:g.34920675A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1419452848	p.Gly371Arg	missense variant	-	NC_000020.11:g.34920677G>C	gnomAD
rs1234422408	p.Ala374Thr	missense variant	-	NC_000020.11:g.34920686G>A	TOPMed
rs749720668	p.Ala377Pro	missense variant	-	NC_000020.11:g.34920695G>C	ExAC,gnomAD
rs1308225578	p.Ala377Asp	missense variant	-	NC_000020.11:g.34920696C>A	TOPMed,gnomAD
rs1308225578	p.Ala377Val	missense variant	-	NC_000020.11:g.34920696C>T	TOPMed,gnomAD
rs1301569310	p.Thr378Ile	missense variant	-	NC_000020.11:g.34920699C>T	TOPMed
rs371238578	p.Ser379Asn	missense variant	-	NC_000020.11:g.34920702G>A	ESP,ExAC,TOPMed,gnomAD
rs761930139	p.Val380Gly	missense variant	-	NC_000020.11:g.34920705T>G	ExAC
rs1160300983	p.Val380Ile	missense variant	-	NC_000020.11:g.34920704G>A	gnomAD
rs1341522239	p.Leu381Ser	missense variant	-	NC_000020.11:g.34920708T>C	gnomAD
COSM4097827	p.Phe382Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34921008T>G	NCI-TCGA Cosmic
rs1358612988	p.Glu383Gly	missense variant	-	NC_000020.11:g.34921010A>G	TOPMed
rs374259558	p.Thr387Ile	missense variant	-	NC_000020.11:g.34921022C>T	ESP,ExAC,gnomAD
rs1345914883	p.Tyr388His	missense variant	-	NC_000020.11:g.34921024T>C	gnomAD
rs201529980	p.Tyr388Ter	stop gained	-	NC_000020.11:g.34921026T>G	ExAC,gnomAD
rs553401428	p.Pro389Leu	missense variant	-	NC_000020.11:g.34921028C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1414153201	p.Pro389Ser	missense variant	-	NC_000020.11:g.34921027C>T	TOPMed
rs770989356	p.Val391Met	missense variant	-	NC_000020.11:g.34921033G>A	ExAC,TOPMed,gnomAD
rs1017668331	p.Asn392Ser	missense variant	-	NC_000020.11:g.34921037A>G	TOPMed,gnomAD
rs759408653	p.Arg393Cys	missense variant	-	NC_000020.11:g.34921039C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp395Ter	stop gained	-	NC_000020.11:g.34921047G>A	NCI-TCGA
rs752393225	p.Ile397Thr	missense variant	-	NC_000020.11:g.34921052T>C	ExAC,TOPMed,gnomAD
rs141802801	p.Ile397Leu	missense variant	-	NC_000020.11:g.34921051A>C	ESP,ExAC,TOPMed,gnomAD
rs1166285332	p.Lys400Ile	missense variant	-	NC_000020.11:g.34921061A>T	TOPMed
rs146190099	p.Thr404Asn	missense variant	-	NC_000020.11:g.34921073C>A	ESP,ExAC,TOPMed,gnomAD
rs376950557	p.Thr408Ala	missense variant	-	NC_000020.11:g.34921084A>G	ESP,ExAC,gnomAD
rs370167177	p.Thr411Ile	missense variant	-	NC_000020.11:g.34921094C>T	ESP,ExAC,gnomAD
rs756784566	p.Ala412Val	missense variant	-	NC_000020.11:g.34921097C>T	ExAC,gnomAD
rs780837244	p.Arg414Cys	missense variant	-	NC_000020.11:g.34921102C>T	ExAC,TOPMed,gnomAD
rs58845949	p.Arg414His	missense variant	-	NC_000020.11:g.34921103G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Met417Ile	missense variant	-	NC_000020.11:g.34921113G>T	NCI-TCGA
rs754412224	p.Met417Leu	missense variant	-	NC_000020.11:g.34921111A>T	ExAC,gnomAD
rs754412224	p.Met417Val	missense variant	-	NC_000020.11:g.34921111A>G	ExAC,gnomAD
rs755478287	p.Glu422Lys	missense variant	-	NC_000020.11:g.34921126G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu422Asp	missense variant	-	NC_000020.11:g.34921128G>T	NCI-TCGA
rs1237982969	p.Val424Ile	missense variant	-	NC_000020.11:g.34921132G>A	gnomAD
rs748416233	p.Thr425Ile	missense variant	-	NC_000020.11:g.34921136C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys426Asn	missense variant	-	NC_000020.11:g.34921330G>T	NCI-TCGA
rs1331221979	p.Lys426Met	missense variant	-	NC_000020.11:g.34921139A>T	gnomAD
rs923632062	p.His427Tyr	missense variant	-	NC_000020.11:g.34921331C>T	TOPMed,gnomAD
rs753221563	p.Arg429Trp	missense variant	-	NC_000020.11:g.34921337C>T	ExAC,TOPMed,gnomAD
rs934925605	p.Arg429Gln	missense variant	-	NC_000020.11:g.34921338G>A	-
rs373884170	p.Ala430Ser	missense variant	-	NC_000020.11:g.34921340G>T	ESP,ExAC,gnomAD
rs757428371	p.Ala430Val	missense variant	-	NC_000020.11:g.34921341C>T	ExAC,gnomAD
rs373884170	p.Ala430Thr	missense variant	-	NC_000020.11:g.34921340G>A	ESP,ExAC,gnomAD
rs781270440	p.Ser431Tyr	missense variant	-	NC_000020.11:g.34921344C>A	ExAC,TOPMed,gnomAD
rs1460702309	p.Leu432Phe	missense variant	-	NC_000020.11:g.34921348G>C	gnomAD
rs970577813	p.Leu432Val	missense variant	-	NC_000020.11:g.34921346T>G	TOPMed
rs1310053453	p.Gln433Glu	missense variant	-	NC_000020.11:g.34921349C>G	gnomAD
rs745995258	p.Gln433His	missense variant	-	NC_000020.11:g.34921351G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln433His	missense variant	-	NC_000020.11:g.34921351G>T	NCI-TCGA
rs769832485	p.Leu435Ser	missense variant	-	NC_000020.11:g.34921356T>C	ExAC,TOPMed,gnomAD
rs1333937477	p.Leu435Phe	missense variant	-	NC_000020.11:g.34921357A>C	TOPMed
rs775356311	p.Gly439Cys	missense variant	-	NC_000020.11:g.34921367G>T	ExAC,gnomAD
rs775356311	p.Gly439Ser	missense variant	-	NC_000020.11:g.34921367G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu440Lys	missense variant	-	NC_000020.11:g.34921370G>A	NCI-TCGA
rs577466825	p.Asn443Lys	missense variant	-	NC_000020.11:g.34921381C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro444His	missense variant	-	NC_000020.11:g.34921383C>A	NCI-TCGA
rs1163749337	p.Pro444Leu	missense variant	-	NC_000020.11:g.34921383C>T	gnomAD
rs774131612	p.Glu445Ter	stop gained	-	NC_000020.11:g.34921385G>T	ExAC,TOPMed,gnomAD
rs774131612	p.Glu445Gln	missense variant	-	NC_000020.11:g.34921385G>C	ExAC,TOPMed,gnomAD
rs761591395	p.Trp447Ter	stop gained	-	NC_000020.11:g.34921392G>A	ExAC,TOPMed,gnomAD
rs1395872009	p.Leu448Ile	missense variant	-	NC_000020.11:g.34921394C>A	TOPMed
rs753153922	p.Arg452Gln	missense variant	-	NC_000020.11:g.34921407G>A	ExAC,TOPMed,gnomAD
rs765895564	p.Arg452Trp	missense variant	-	NC_000020.11:g.34921406C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val454Ile	missense variant	-	NC_000020.11:g.34921412G>A	NCI-TCGA
rs1177860432	p.Gly455Asp	missense variant	-	NC_000020.11:g.34921416G>A	TOPMed
rs757594360	p.Ala456Val	missense variant	-	NC_000020.11:g.34921419C>T	ExAC,gnomAD
rs144061380	p.Ala456Ser	missense variant	-	NC_000020.11:g.34921418G>T	ESP,ExAC,TOPMed,gnomAD
rs144061380	p.Ala456Thr	missense variant	-	NC_000020.11:g.34921418G>A	ESP,ExAC,TOPMed,gnomAD
rs1170749059	p.Gln457Glu	missense variant	-	NC_000020.11:g.34921421C>G	gnomAD
rs1170749059	p.Gln457Ter	stop gained	-	NC_000020.11:g.34921421C>T	gnomAD
rs373930264	p.Arg458Cys	missense variant	-	NC_000020.11:g.34921424C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs746077019	p.Arg458His	missense variant	-	NC_000020.11:g.34921425G>A	ExAC,TOPMed,gnomAD
rs1357205434	p.Pro460Thr	missense variant	-	NC_000020.11:g.34921430C>A	TOPMed,gnomAD
rs1357205434	p.Pro460Ala	missense variant	-	NC_000020.11:g.34921430C>G	TOPMed,gnomAD
rs150951175	p.Ile461Met	missense variant	-	NC_000020.11:g.34921435C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780114513	p.Val462Met	missense variant	-	NC_000020.11:g.34921436G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp463Gly	missense variant	-	NC_000020.11:g.34921440A>G	NCI-TCGA
rs1360706307	p.Thr464Ala	missense variant	-	NC_000020.11:g.34921442A>G	gnomAD
rs1432184379	p.Trp466Ter	stop gained	-	NC_000020.11:g.34921449G>A	gnomAD
rs1309270603	p.Gln467Glu	missense variant	-	NC_000020.11:g.34921451C>G	TOPMed
rs1365252670	p.Gly472Ser	missense variant	-	NC_000020.11:g.34921547G>A	gnomAD
rs1435374127	p.Gly472Asp	missense variant	-	NC_000020.11:g.34921548G>A	gnomAD
rs753911778	p.His473Arg	missense variant	-	NC_000020.11:g.34921551A>G	ExAC,gnomAD
rs1237652976	p.His473Gln	missense variant	-	NC_000020.11:g.34921552C>G	TOPMed
rs754979041	p.Met474Val	missense variant	-	NC_000020.11:g.34921553A>G	ExAC,gnomAD
rs779038706	p.Pro477Arg	missense variant	-	NC_000020.11:g.34921563C>G	ExAC,gnomAD
COSM3545592	p.Pro479Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34921568C>T	NCI-TCGA Cosmic
rs200628498	p.Ala481Thr	missense variant	-	NC_000020.11:g.34921574G>A	ESP,ExAC,TOPMed,gnomAD
rs1320135868	p.Met484Val	missense variant	-	NC_000020.11:g.34921583A>G	gnomAD
rs1327770577	p.Met484Thr	missense variant	-	NC_000020.11:g.34921584T>C	gnomAD
rs746685443	p.Gly487Ser	missense variant	-	NC_000020.11:g.34921592G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser488Tyr	missense variant	-	NC_000020.11:g.34921596C>A	NCI-TCGA
rs746863807	p.Phe491Ser	missense variant	-	NC_000020.11:g.34921790T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe493Leu	missense variant	-	NC_000020.11:g.34921797C>A	NCI-TCGA
rs1452478600	p.Phe494Ser	missense variant	-	NC_000020.11:g.34921799T>C	gnomAD
rs1250867153	p.Gly495Asp	missense variant	-	NC_000020.11:g.34921802G>A	gnomAD
rs59088485	p.Val496Ala	missense variant	-	NC_000020.11:g.34921805T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000755123	p.Val496Ala	missense variant	Nonsyndromic cleft lip palate	NC_000020.11:g.34921805T>C	ClinVar
rs1184299367	p.Ala497Ser	missense variant	-	NC_000020.11:g.34921807G>T	gnomAD
NCI-TCGA novel	p.Ala497Val	missense variant	-	NC_000020.11:g.34921808C>T	NCI-TCGA
rs930713244	p.Pro498Ser	missense variant	-	NC_000020.11:g.34921810C>T	TOPMed,gnomAD
rs1049574776	p.Ile500Val	missense variant	-	NC_000020.11:g.34921816A>G	gnomAD
rs745504008	p.Asn502Lys	missense variant	-	NC_000020.11:g.34921824T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu503Lys	missense variant	-	NC_000020.11:g.34921825G>A	NCI-TCGA
COSM3840827	p.Glu503Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34921825G>C	NCI-TCGA Cosmic
rs774923327	p.Ser504Tyr	missense variant	-	NC_000020.11:g.34921829C>A	ExAC,TOPMed,gnomAD
rs772525484	p.Gly505Arg	missense variant	-	NC_000020.11:g.34921831G>A	ExAC,TOPMed,gnomAD
rs537752065	p.Glu506Asp	missense variant	-	NC_000020.11:g.34921836A>C	1000Genomes,ExAC,gnomAD
rs955635187	p.Glu506Gln	missense variant	-	NC_000020.11:g.34921834G>C	TOPMed
NCI-TCGA novel	p.Glu507Ter	stop gained	-	NC_000020.11:g.34921837G>T	NCI-TCGA
rs372652815	p.Glu507Lys	missense variant	-	NC_000020.11:g.34921837G>A	ESP,ExAC,TOPMed,gnomAD
rs766636356	p.Glu509Gln	missense variant	-	NC_000020.11:g.34921843G>C	ExAC,gnomAD
rs759623142	p.Glu511Asp	missense variant	-	NC_000020.11:g.34921851A>C	ExAC,gnomAD
rs59116442	p.Ala512Thr	missense variant	-	NC_000020.11:g.34921852G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752787424	p.Glu513Asp	missense variant	-	NC_000020.11:g.34921857A>C	ExAC,TOPMed,gnomAD
rs1227972934	p.Glu513Gly	missense variant	-	NC_000020.11:g.34921856A>G	gnomAD
NCI-TCGA novel	p.Glu513Lys	missense variant	-	NC_000020.11:g.34921855G>A	NCI-TCGA
rs1339810045	p.Tyr515Phe	missense variant	-	NC_000020.11:g.34921862A>T	gnomAD
rs919947840	p.Val517Met	missense variant	-	NC_000020.11:g.34923323G>A	TOPMed
NCI-TCGA novel	p.Phe518SerPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.34923327_34923334TCAAGCAG>-	NCI-TCGA
NCI-TCGA novel	p.Gln520His	missense variant	-	NC_000020.11:g.34923334G>T	NCI-TCGA
rs1324465329	p.Pro521Ser	missense variant	-	NC_000020.11:g.34923335C>T	gnomAD
rs1377448000	p.Pro523Leu	missense variant	-	NC_000020.11:g.34923342C>T	gnomAD
rs757084938	p.Met526Thr	missense variant	-	NC_000020.11:g.34923351T>C	ExAC,TOPMed,gnomAD
rs767366802	p.Arg527His	missense variant	-	NC_000020.11:g.34923354G>A	ExAC,gnomAD
rs1202398973	p.Arg527Cys	missense variant	-	NC_000020.11:g.34923353C>T	TOPMed,gnomAD
rs375346989	p.Thr528Lys	missense variant	-	NC_000020.11:g.34923357C>A	ESP,TOPMed,gnomAD
rs60299071	p.Val529Leu	missense variant	-	NC_000020.11:g.34923359G>C	ESP,ExAC,TOPMed,gnomAD
rs60299071	p.Val529Ile	missense variant	-	NC_000020.11:g.34923359G>A	ESP,ExAC,TOPMed,gnomAD
rs1318697771	p.Tyr530Cys	missense variant	-	NC_000020.11:g.34923363A>G	gnomAD
rs1186720435	p.Asn532Ser	missense variant	-	NC_000020.11:g.34923369A>G	gnomAD
rs754546126	p.Glu534Lys	missense variant	-	NC_000020.11:g.34923374G>A	ExAC,TOPMed,gnomAD
rs747577313	p.Arg535His	missense variant	-	NC_000020.11:g.34923378G>A	ExAC,gnomAD
rs370804534	p.Arg535Cys	missense variant	-	NC_000020.11:g.34923377C>T	ESP,ExAC,TOPMed,gnomAD
rs747577313	p.Arg535Leu	missense variant	-	NC_000020.11:g.34923378G>T	ExAC,gnomAD
rs771306432	p.Glu537Lys	missense variant	-	NC_000020.11:g.34923383G>A	ExAC,gnomAD
rs114973052	p.Thr538Ser	missense variant	-	NC_000020.11:g.34923386A>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr538Arg	missense variant	-	NC_000020.11:g.34923387C>G	NCI-TCGA
rs1307128288	p.Thr539Ala	missense variant	-	NC_000020.11:g.34923389A>G	TOPMed
rs1465824587	p.Tyr540Cys	missense variant	-	NC_000020.11:g.34923393A>G	gnomAD
rs1265751893	p.Tyr540Asp	missense variant	-	NC_000020.11:g.34923392T>G	gnomAD
rs1465824587	p.Tyr540Ser	missense variant	-	NC_000020.11:g.34923393A>C	gnomAD
rs746286796	p.Lys543Ter	stop gained	-	NC_000020.11:g.34923401A>T	ExAC,gnomAD
rs867087873	p.Pro545Leu	missense variant	-	NC_000020.11:g.34923408C>T	TOPMed,gnomAD
rs1376866457	p.Tyr548His	missense variant	-	NC_000020.11:g.34923416T>C	TOPMed
rs530608402	p.Tyr548Cys	missense variant	-	NC_000020.11:g.34923417A>G	1000Genomes,ExAC,gnomAD
rs1201538340	p.Asp552Val	missense variant	-	NC_000020.11:g.34923429A>T	gnomAD
rs763201560	p.Asp552Glu	missense variant	-	NC_000020.11:g.34923430T>A	ExAC,TOPMed,gnomAD
rs768795904	p.Gly553Ser	missense variant	-	NC_000020.11:g.34923431G>A	ExAC,gnomAD
rs768719024	p.Gly553Val	missense variant	-	NC_000020.11:g.34925698G>T	ExAC,gnomAD
rs761846257	p.Arg556Gln	missense variant	-	NC_000020.11:g.34925707G>A	ExAC,gnomAD
rs774600970	p.Arg556Trp	missense variant	-	NC_000020.11:g.34925706C>T	ExAC,TOPMed,gnomAD
rs1283297000	p.Asp559Asn	missense variant	-	NC_000020.11:g.34925715G>A	TOPMed
COSM3545594	p.Gly560Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34925718G>A	NCI-TCGA Cosmic
rs1181773751	p.Tyr561Cys	missense variant	-	NC_000020.11:g.34925722A>G	TOPMed,gnomAD
rs772177672	p.Thr565Ile	missense variant	-	NC_000020.11:g.34925734C>T	ExAC,TOPMed,gnomAD
COSM1026130	p.Thr565Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34925734C>A	NCI-TCGA Cosmic
rs1244663199	p.Gly566Ser	missense variant	-	NC_000020.11:g.34925736G>A	TOPMed
rs779093164	p.Ile568Thr	missense variant	-	NC_000020.11:g.34925743T>C	ExAC,TOPMed,gnomAD
rs1428052681	p.Asp569Val	missense variant	-	NC_000020.11:g.34925746A>T	gnomAD
rs1342569680	p.Asp570Asn	missense variant	-	NC_000020.11:g.34925748G>A	gnomAD
rs753593432	p.Met571Leu	missense variant	-	NC_000020.11:g.34925751A>T	ExAC,gnomAD
rs368193617	p.Met571Thr	missense variant	-	NC_000020.11:g.34925752T>C	ESP,ExAC,TOPMed,gnomAD
rs368193617	p.Met571Lys	missense variant	-	NC_000020.11:g.34925752T>A	ESP,ExAC,TOPMed,gnomAD
rs1302143681	p.Asn573Ser	missense variant	-	NC_000020.11:g.34925758A>G	gnomAD
rs1164268952	p.Val574Ile	missense variant	-	NC_000020.11:g.34925760G>A	TOPMed
rs746967908	p.Ser580Asn	missense variant	-	NC_000020.11:g.34926117G>A	ExAC,gnomAD
rs1314536810	p.Thr581Ile	missense variant	-	NC_000020.11:g.34926120C>T	TOPMed,gnomAD
rs770899119	p.Ala582Thr	missense variant	-	NC_000020.11:g.34926122G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu588Pro	missense variant	-	NC_000020.11:g.34926141T>C	NCI-TCGA
rs1463559405	p.Leu588Phe	missense variant	-	NC_000020.11:g.34926140C>T	TOPMed,gnomAD
rs914417974	p.Val589Ala	missense variant	-	NC_000020.11:g.34926144T>C	TOPMed
rs1210855733	p.His591Arg	missense variant	-	NC_000020.11:g.34926150A>G	gnomAD
rs1242849536	p.Glu592Lys	missense variant	-	NC_000020.11:g.34926152G>A	gnomAD
rs759310107	p.Glu592Ala	missense variant	-	NC_000020.11:g.34926153A>C	ExAC,TOPMed,gnomAD
rs1242849536	p.Glu592Gln	missense variant	-	NC_000020.11:g.34926152G>C	gnomAD
rs1202966100	p.Ala593Thr	missense variant	-	NC_000020.11:g.34926155G>A	TOPMed
rs1444654828	p.Ala593Val	missense variant	-	NC_000020.11:g.34926156C>T	TOPMed
rs775012077	p.Val594Ile	missense variant	-	NC_000020.11:g.34926158G>A	ExAC,TOPMed,gnomAD
rs762610058	p.Ala595Gly	missense variant	-	NC_000020.11:g.34926162C>G	ExAC,TOPMed,gnomAD
rs199960234	p.Val600Met	missense variant	-	NC_000020.11:g.34926176G>A	ExAC,gnomAD
rs1410628617	p.Val600Ala	missense variant	-	NC_000020.11:g.34926177T>C	gnomAD
rs45486997	p.Gly601Ala	missense variant	-	NC_000020.11:g.34926180G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3545596	p.His602Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34926182C>T	NCI-TCGA Cosmic
rs756796073	p.Val606Ala	missense variant	-	NC_000020.11:g.34926195T>C	ExAC,gnomAD
rs1345479489	p.Val606Met	missense variant	-	NC_000020.11:g.34926194G>A	gnomAD
rs767041380	p.Gly608Ser	missense variant	-	NC_000020.11:g.34926200G>A	ExAC,TOPMed,gnomAD
rs754381719	p.Gly608Asp	missense variant	-	NC_000020.11:g.34926201G>A	ExAC,TOPMed,gnomAD
rs754381719	p.Gly608Val	missense variant	-	NC_000020.11:g.34926201G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val615SerPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.34926221G>-	NCI-TCGA
COSM4097833	p.Val615Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34926222T>A	NCI-TCGA Cosmic
rs755363402	p.Thr616Ile	missense variant	-	NC_000020.11:g.34926225C>T	ExAC,TOPMed
NCI-TCGA novel	p.Thr616MetPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.34926220_34926229TGTCACCTTG>-	NCI-TCGA
rs1327165785	p.Cys618Tyr	missense variant	-	NC_000020.11:g.34926231G>A	gnomAD
NCI-TCGA novel	p.Cys618Phe	missense variant	-	NC_000020.11:g.34926231G>T	NCI-TCGA
rs371439681	p.Asp619Val	missense variant	-	NC_000020.11:g.34926234A>T	ESP,TOPMed
rs1406777510	p.Gly620Ser	missense variant	-	NC_000020.11:g.34926236G>A	TOPMed
rs1335803848	p.His621Tyr	missense variant	-	NC_000020.11:g.34926239C>T	TOPMed
rs748328241	p.Thr622Ile	missense variant	-	NC_000020.11:g.34926243C>T	ExAC,gnomAD
rs758594236	p.Pro625Arg	missense variant	-	NC_000020.11:g.34926252C>G	ExAC,TOPMed,gnomAD
rs1451315074	p.Thr628Asn	missense variant	-	NC_000020.11:g.34926261C>A	gnomAD
COSM4097835	p.Thr628Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34926261C>T	NCI-TCGA Cosmic
rs376823511	p.Glu629Lys	missense variant	-	NC_000020.11:g.34926263G>A	ESP,ExAC,TOPMed,gnomAD
rs770987285	p.Lys633Arg	missense variant	-	NC_000020.11:g.34926276A>G	ExAC,gnomAD
rs776619853	p.Gln634His	missense variant	-	NC_000020.11:g.34926280G>C	ExAC,gnomAD
COSM1411340	p.Glu637Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.34926882G>T	NCI-TCGA Cosmic
rs1361352105	p.Ile639Thr	missense variant	-	NC_000020.11:g.34926889T>C	gnomAD
rs767129219	p.Ile642Val	missense variant	-	NC_000020.11:g.34926897A>G	ExAC,gnomAD
rs754303246	p.Ile642Thr	missense variant	-	NC_000020.11:g.34926898T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala643Thr	missense variant	-	NC_000020.11:g.34926900G>A	NCI-TCGA
rs1482056196	p.Ala643Val	missense variant	-	NC_000020.11:g.34926901C>T	gnomAD
rs1183878646	p.Thr644Ile	missense variant	-	NC_000020.11:g.34926904C>T	gnomAD
rs755452302	p.Asp646Ala	missense variant	-	NC_000020.11:g.34926910A>C	ExAC,gnomAD
rs1364409251	p.Tyr647His	missense variant	-	NC_000020.11:g.34926912T>C	TOPMed
rs1179759861	p.Gln649Arg	missense variant	-	NC_000020.11:g.34926919A>G	gnomAD
NCI-TCGA novel	p.Asn650Ser	missense variant	-	NC_000020.11:g.34926922A>G	NCI-TCGA
rs1386644805	p.Pro652Ala	missense variant	-	NC_000020.11:g.34926927C>G	TOPMed,gnomAD
rs1424884217	p.Pro652His	missense variant	-	NC_000020.11:g.34926928C>A	gnomAD
rs141522623	p.Gly653Cys	missense variant	-	NC_000020.11:g.34926930G>T	ESP,ExAC,TOPMed,gnomAD
rs141522623	p.Gly653Ser	missense variant	-	NC_000020.11:g.34926930G>A	ESP,ExAC,TOPMed,gnomAD
rs758672345	p.Gly653Ala	missense variant	-	NC_000020.11:g.34926931G>C	ExAC,gnomAD
rs977249507	p.Thr657Pro	missense variant	-	NC_000020.11:g.34926942A>C	TOPMed
rs778031362	p.Arg658Cys	missense variant	-	NC_000020.11:g.34926945C>T	ExAC,TOPMed,gnomAD
rs200708044	p.Arg658His	missense variant	-	NC_000020.11:g.34926946G>A	ESP,ExAC,TOPMed,gnomAD
rs200708044	p.Arg658Pro	missense variant	-	NC_000020.11:g.34926946G>C	ESP,ExAC,TOPMed,gnomAD
rs781192715	p.Ser659Leu	missense variant	-	NC_000020.11:g.34926949C>T	ExAC,gnomAD
rs566694933	p.Gly660Val	missense variant	-	NC_000020.11:g.34927087G>T	1000Genomes,ExAC,gnomAD
rs757422212	p.Met663Ile	missense variant	-	NC_000020.11:g.34927097G>A	ExAC,gnomAD
rs1283189673	p.Arg664Trp	missense variant	-	NC_000020.11:g.34927098A>T	TOPMed
NCI-TCGA novel	p.Arg665Leu	missense variant	-	NC_000020.11:g.34927102G>T	NCI-TCGA
NCI-TCGA novel	p.Arg665Ter	stop gained	-	NC_000020.11:g.34927101C>T	NCI-TCGA
rs372698999	p.Arg665Gln	missense variant	-	NC_000020.11:g.34927102G>A	ESP,ExAC,TOPMed,gnomAD
rs750558216	p.Val666Ala	missense variant	-	NC_000020.11:g.34927105T>C	ExAC,gnomAD
rs555249896	p.Arg668Gln	missense variant	-	NC_000020.11:g.34927111G>A	1000Genomes,ExAC,gnomAD
rs199994014	p.Arg668Trp	missense variant	-	NC_000020.11:g.34927110C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1229262823	p.Lys669Asn	missense variant	-	NC_000020.11:g.34927115G>C	gnomAD
rs60098280	p.Ile670Phe	missense variant	-	NC_000020.11:g.34927116A>T	gnomAD
rs1344300409	p.Ile670Thr	missense variant	-	NC_000020.11:g.34927117T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala671Thr	missense variant	-	NC_000020.11:g.34927119G>A	NCI-TCGA
rs1264509322	p.Gln672His	missense variant	-	NC_000020.11:g.34927124G>C	gnomAD
rs778789107	p.Gln672Arg	missense variant	-	NC_000020.11:g.34927123A>G	ExAC,gnomAD
rs565890354	p.Gly678Arg	missense variant	-	NC_000020.11:g.34927140G>A	TOPMed,gnomAD
rs1448361231	p.Met680Ile	missense variant	-	NC_000020.11:g.34927148G>A	gnomAD
rs1194430223	p.Ser681Phe	missense variant	-	NC_000020.11:g.34927150C>T	gnomAD
rs1477355430	p.Ser687Ala	missense variant	-	NC_000020.11:g.34927167T>G	gnomAD
rs1477355430	p.Ser687Pro	missense variant	-	NC_000020.11:g.34927167T>C	gnomAD
rs1282759700	p.Val688Ile	missense variant	-	NC_000020.11:g.34927170G>A	TOPMed
rs760294223	p.Ile689Thr	missense variant	-	NC_000020.11:g.34927174T>C	ExAC,gnomAD
rs776073180	p.His695Tyr	missense variant	-	NC_000020.11:g.34927191C>T	ExAC,TOPMed,gnomAD
rs776073180	p.His695Asp	missense variant	-	NC_000020.11:g.34927191C>G	ExAC,TOPMed,gnomAD
rs776073180	p.His695Asn	missense variant	-	NC_000020.11:g.34927191C>A	ExAC,TOPMed,gnomAD
rs376543322	p.Arg696His	missense variant	-	NC_000020.11:g.34927195G>A	ESP,ExAC,TOPMed,gnomAD
rs59803261	p.Arg696Cys	missense variant	-	NC_000020.11:g.34927194C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762136124	p.Cys697Ser	missense variant	-	NC_000020.11:g.34927198G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr699Ala	missense variant	-	NC_000020.11:g.34927203A>G	NCI-TCGA
rs1285068457	p.Thr699Pro	missense variant	-	NC_000020.11:g.34927203A>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001175	Acquired Immunodeficiency Syndrome	group	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0010046	Corn of toe	phenotype	BEFREE
C0018799	Heart Diseases	group	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0038454	Cerebrovascular accident	group	BEFREE
C0158646	Cleft palate with cleft lip	disease	BEFREE
C0340288	Stable angina	disease	BEFREE
C0919677	Protein C measurement	phenotype	GWASDB
C0948089	Acute Coronary Syndrome	disease	BEFREE
C1168438	Protein C antigen measurement	phenotype	GWASDB
C1306459	Primary malignant neoplasm	group	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1956346	Coronary Artery Disease	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2678439	CRANIOOSTEOARTHROPATHY	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003987	acetate-CoA ligase activity	IDA
GO:0003987	acetate-CoA ligase activity	TAS
GO:0005524	ATP binding	IEA
GO:0016208	AMP binding	IC
GO:0050218	propionate-CoA ligase activity	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006069	ethanol oxidation	TAS
GO:0008610	lipid biosynthetic process	IMP
GO:0019413	acetate biosynthetic process	IEA
GO:0019427	acetyl-CoA biosynthetic process from acetate	IEA
GO:0019542	propionate biosynthetic process	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IC
GO:0005759	mitochondrial matrix	TAS
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0043231	intracellular membrane-bounded organelle	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1592230	Mitochondrial biogenesis	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-211859	Biological oxidations	TAS
R-HSA-211945	Phase I - Functionalization of compounds	TAS
R-HSA-2151201	Transcriptional activation of mitochondrial biogenesis	TAS
R-HSA-71384	Ethanol oxidation	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of ACSS2 mRNA	28903501
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of ACSS2 mRNA	28628672
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of ACSS2 mRNA	28801915
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of ACSS2 mRNA	30723492
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of ACSS2 mRNA	28433925
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of ACSS2 mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of ACSS2 mRNA	21346803
C014464	3,4-dichloroaniline	3,4-dichloroaniline results in decreased expression of ACSS2 mRNA	24172598
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of ACSS2 mRNA	18648102
D000082	Acetaminophen	Acetaminophen affects the expression of ACSS2 mRNA	25064622
D000082	Acetaminophen	Acetaminophen results in decreased expression of ACSS2 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of ACSS2 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of ACSS2 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of ACSS2 mRNA	21641981; 22100608; 27153756;
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of ACSS2 gene	27153756
C000593263	afuresertib	afuresertib results in increased expression of ACSS2 mRNA	28960945
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of ACSS2 mRNA	21757418
D000452	Aldrin	Aldrin results in increased expression of ACSS2 mRNA	18579281
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of ACSS2 mRNA	21298039
D000638	Amiodarone	Amiodarone affects the expression of ACSS2 mRNA	25064622
D000638	Amiodarone	Amiodarone results in increased expression of ACSS2 mRNA	24535564
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of ACSS2 mRNA	27829220
C049935	avobenzone	avobenzone results in increased expression of ACSS2 mRNA	31016361
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of ACSS2 mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ACSS2 mRNA	22178795; 26238291;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ACSS2 mRNA	22228805
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ACSS2 mRNA	19770486; 21964900;
D001629	Bezafibrate	Bezafibrate affects the expression of ACSS2 mRNA	17719200
C006780	bisphenol A	bisphenol A affects the expression of ACSS2 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the methylation of ACSS2 intron	30906313
C006780	bisphenol A	bisphenol A affects the expression of ACSS2 mRNA	30903817
C006780	bisphenol A	bisphenol A inhibits the reaction [Estradiol results in increased expression of ACSS2 mRNA]	28476547
C006780	bisphenol A	bisphenol A results in increased expression of ACSS2 mRNA	28476547
C006780	bisphenol A	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of ACSS2 mRNA	28433925
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in increased expression of ACSS2 mRNA	26496021
C006780	bisphenol A	bisphenol A results in increased expression of ACSS2 mRNA	25181051
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of ACSS2 mRNA	23644582
D002251	Carbon Tetrachloride	[Carbon Tetrachloride co-treated with Ethanol] results in decreased expression of ACSS2 mRNA	30517762
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of ACSS2 mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of ACSS2 mRNA	31150632
D002737	Chloroprene	Chloroprene results in increased expression of ACSS2 mRNA	23125180
D002746	Chlorpromazine	Chlorpromazine affects the expression of ACSS2 mRNA	25064622
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of ACSS2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of ACSS2 mRNA	27594783
D002990	Clobetasol	Clobetasol results in increased expression of ACSS2 mRNA	27462272
D003300	Copper	[Disulfiram binds to Copper] which results in increased expression of ACSS2 mRNA	24690739
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of ACSS2 mRNA	19549813
C029892	cupric chloride	cupric chloride results in decreased expression of ACSS2 mRNA	24650576
D016572	Cyclosporine	Cyclosporine affects the expression of ACSS2 mRNA	25064622
D016572	Cyclosporine	Cyclosporine results in decreased expression of ACSS2 mRNA	20106945; 23830897;
D016572	Cyclosporine	Cyclosporine results in increased expression of ACSS2 mRNA	27989131
D016572	Cyclosporine	Cyclosporine results in decreased expression of ACSS2 mRNA	23830897
D016572	Cyclosporine	Cyclosporine results in decreased expression of ACSS2 mRNA	21865292
D003634	DDT	DDT results in increased expression of ACSS2 mRNA	29477483
D003907	Dexamethasone	Dexamethasone results in increased expression of ACSS2 mRNA	25047013
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of ACSS2 mRNA	28628672
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of ACSS2 mRNA	29950665
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of ACSS2 mRNA	21266533
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of ACSS2 mRNA	21266533
D004041	Dietary Fats	Dietary Fats affects the expression of ACSS2 mRNA	19680557
D004041	Dietary Fats	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of ACSS2 mRNA	28433925
D004041	Dietary Fats	[Dietary Fats co-treated with ganoderic acid A] affects the expression of ACSS2 mRNA	29852127
D004041	Dietary Fats	[Dietary Fats co-treated with Lovastatin] affects the expression of ACSS2 mRNA	29852127
D004041	Dietary Fats	Dietary Fats results in decreased expression of ACSS2 mRNA	18042831; 22609946; 28673684; 30120929;
D004041	Dietary Fats	Dietary Fats results in decreased expression of ACSS2 protein	28077572
D004041	Dietary Fats	FGF15 gene mutant form inhibits the reaction [Dietary Fats results in decreased expression of ACSS2 mRNA]	28673684
D019422	Dietary Sucrose	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of ACSS2 mRNA	28433925
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of ACSS2 protein	31163220
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of ACSS2 mRNA	19850644
D004051	Diethylhexyl Phthalate	PPARA protein promotes the reaction [Diethylhexyl Phthalate results in increased expression of ACSS2 mRNA]	19850644
D004051	Diethylhexyl Phthalate	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of ACSS2 mRNA	28433925
D004147	Dioxins	Dioxins affects the expression of ACSS2 mRNA	20463971
D004221	Disulfiram	[Disulfiram binds to Copper] which results in increased expression of ACSS2 mRNA	24690739
D004237	Diuron	Diuron results in decreased expression of ACSS2 mRNA	21551480; 24172598;
D004317	Doxorubicin	Doxorubicin results in decreased expression of ACSS2 mRNA	29803840
D004726	Endosulfan	Endosulfan affects the expression of ACSS2 mRNA	29391264
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in increased expression of ACSS2 mRNA	29464035
D004958	Estradiol	bisphenol A inhibits the reaction [Estradiol results in increased expression of ACSS2 mRNA]	28476547
D004958	Estradiol	Estradiol results in decreased expression of ACSS2 mRNA	19484750
D004958	Estradiol	Estradiol results in increased expression of ACSS2 mRNA	28476547
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in increased expression of ACSS2 mRNA	26496021
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
D000431	Ethanol	[Carbon Tetrachloride co-treated with Ethanol] results in decreased expression of ACSS2 mRNA	30517762
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of ACSS2 mRNA	25064622
C024565	ethylene dichloride	ethylene dichloride results in decreased expression of ACSS2 mRNA	28189721
D011345	Fenofibrate	Fenofibrate results in decreased expression of ACSS2 mRNA	25572481
C000499	ferric oxide	ferric oxide analog results in increased expression of ACSS2 mRNA	25086211
C515005	ganoderic acid A	[Dietary Fats co-treated with ganoderic acid A] affects the expression of ACSS2 mRNA	29852127
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
D005839	Gentamicins	Gentamicins results in increased expression of ACSS2 mRNA	22061828
D005897	Glafenine	Glafenine results in decreased expression of ACSS2 mRNA	24136188
D005944	Glucosamine	Glucosamine results in increased expression of ACSS2 mRNA	17178593
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of ACSS2 mRNA	28628672
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of ACSS2 mRNA	27392435
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of ACSS2 mRNA	27339419
D008148	Lovastatin	[Dietary Fats co-treated with Lovastatin] affects the expression of ACSS2 mRNA	29852127
C025340	manganese chloride	manganese chloride results in decreased expression of ACSS2 mRNA	28801915
D008694	Methamphetamine	Methamphetamine affects the expression of ACSS2 mRNA	29802913
D008727	Methotrexate	Methotrexate results in increased expression of ACSS2 mRNA	17400583
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of ACSS2 mRNA	23103053
D008825	Miconazole	Miconazole results in increased expression of ACSS2 mRNA	27462272
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of ACSS2 mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of ACSS2 mRNA	25554681; 25620056;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of ACSS2 mRNA	25554681; 25620056;
C051752	nefazodone	nefazodone results in decreased expression of ACSS2 mRNA	24136188
D009532	Nickel	Nickel results in decreased expression of ACSS2 mRNA	24768652; 25583101;
C029938	nickel sulfate	nickel sulfate results in increased expression of ACSS2 mRNA	22714537
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of ACSS2 mRNA	20188158
C025589	ochratoxin A	ochratoxin A results in decreased expression of ACSS2 mRNA	19717638
C005290	oxybenzone	oxybenzone results in increased expression of ACSS2 mRNA	30316929
D010100	Oxygen	Oxygen deficiency affects the expression of ACSS2 protein	26087400
D010100	Oxygen	Oxygen deficiency results in increased expression of ACSS2 mRNA	24236059
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of ACSS2 mRNA	30529165
D000073878	Palm Oil	Palm Oil affects the expression of ACSS2 mRNA	19680557
D000073878	Palm Oil	Palm Oil results in decreased expression of ACSS2 mRNA	18042831
D010269	Paraquat	Paraquat affects the expression of ACSS2 mRNA	25064622
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
C471071	perfluorohexanesulfonic acid	perfluorohexanesulfonic acid results in increased expression of ACSS2 mRNA	21705711
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of ACSS2 mRNA	30657992
C006253	pirinixic acid	pirinixic acid results in decreased expression of ACSS2 mRNA	18445702
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of ACSS2 mRNA	29432896
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of ACSS2 protein	23718831
C572919	PP242	PP242 results in decreased expression of ACSS2 mRNA	30679557
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of ACSS2 mRNA	28903501
D011374	Progesterone	Progesterone results in increased expression of ACSS2 mRNA	23012394
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of ACSS2 mRNA	24780913
C502851	quinocetone	quinocetone results in increased expression of ACSS2 mRNA	27046791
D019438	Ritonavir	Ritonavir affects the expression of ACSS2 mRNA	17719200
D012402	Rotenone	Rotenone results in increased expression of ACSS2 mRNA	29955902
D012402	Rotenone	Rotenone affects the expression of ACSS2 mRNA	28374803
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of ACSS2 mRNA	21427059
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of ACSS2 mRNA	25895662
C017947	sodium arsenite	sodium arsenite results in decreased expression of ACSS2 mRNA	29361514
C016104	sodium bichromate	sodium bichromate results in decreased expression of ACSS2 mRNA	25993096
D000077210	Sunitinib	Sunitinib results in increased expression of ACSS2 mRNA	31533062
C013698	tallow	tallow affects the expression of ACSS2 mRNA	19680557
D013629	Tamoxifen	Tamoxifen affects the expression of ACSS2 mRNA	20937368
C030141	taurine-ursodeoxycholate conjugate	taurine-ursodeoxycholate conjugate promotes the reaction [LEP gene mutant form results in decreased expression of ACSS2 mRNA]	21079772
D013739	Testosterone	Testosterone results in increased expression of ACSS2 mRNA	16579987
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ACSS2 mRNA	20106945
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ACSS2 mRNA	21570461; 26377647;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of ACSS2 mRNA	28433925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ACSS2 mRNA	19770486
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ACSS2 mRNA	21215274; 21724226;
D013752	Tetracycline	Tetracycline affects the expression of ACSS2 mRNA	25064622
D013752	Tetracycline	Tetracycline results in decreased expression of ACSS2 mRNA	24489787
D013853	Thioacetamide	Thioacetamide affects the expression of ACSS2 mRNA	25064622
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of ACSS2 mRNA	29950665
C009495	titanium dioxide	titanium dioxide results in decreased expression of ACSS2 mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of ACSS2 mRNA	28065790
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of ACSS2 mRNA	29545142
D000077867	Tolcapone	Tolcapone results in increased expression of ACSS2 mRNA	24136188
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of ACSS2 mRNA	26179874
D000077288	Troglitazone	Troglitazone results in decreased expression of ACSS2 mRNA	25572481
D014520	Urethane	Urethane results in decreased expression of ACSS2 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of ACSS2 mRNA	25064622
D014635	Valproic Acid	Valproic Acid affects the expression of ACSS2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of ACSS2 mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in decreased methylation of ACSS2 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of ACSS2 mRNA	17292431
D014635	Valproic Acid	Valproic Acid results in increased expression of ACSS2 mRNA	21427059; 24535564;
D014640	Vancomycin	Vancomycin results in increased expression of ACSS2 mRNA	18930951
D014752	Vinyl Chloride	Vinyl Chloride results in increased expression of ACSS2 mRNA	18579281
D014801	Vitamin A	Vitamin A deficiency results in decreased expression of ACSS2 mRNA	12163651
C066632	yessotoxin	yessotoxin analog results in increased expression of ACSS2 mRNA	30679557
D015032	Zinc	Zinc deficiency results in increased expression of ACSS2 mRNA	20932299
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of ACSS2 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0963	Cytoplasm
KW-0436	Ligase
KW-0547	Nucleotide-binding
KW-0597	Phosphoprotein
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR011904	Ac_CoA_lig
IPR032387	ACAS_N
IPR025110	AMP-bd_C
IPR020845	AMP-binding_CS
IPR000873	AMP-dep_Synth/Lig
IPR042099	AMP-dep_Synthh-like_sf

PROSITE

PROSITE ID	PROSITE Term
PS00455	AMP_BINDING

Pfam

Pfam ID	Pfam Term
PF16177	ACAS_N
PF00501	AMP-binding
PF13193	AMP-binding_C

Gene: ACSS2

Basic information

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

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction