P49716 · CEBPD_HUMAN

  • Protein
    CCAAT/enhancer-binding protein delta
  • Gene
    CEBPD
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

126920406080100120140160180200220240260
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs21544961272S>GEnsembl
rs12605407903A>TTOPMed
rs20862885145L>REnsembl
rs9175514019D>GTOPMed
gnomAD
rs21544961269D>HEnsembl
rs9175514019D>VTOPMed
gnomAD
rs147482550910G>RgnomAD
rs147482550910G>SgnomAD
rs127778915111P>LTOPMed
gnomAD
rs127778915111P>QTOPMed
gnomAD
rs127778915111P>RTOPMed
gnomAD
rs130868170311P>STOPMed
gnomAD
rs139932286412A>EgnomAD
rs115937940112A>PTOPMed
gnomAD
rs115937940112A>TTOPMed
gnomAD
rs208628804213R>CTOPMed
gnomAD
rs95700895414G>DgnomAD
rs138444427114G>S1000Genomes
TOPMed
rs97964736715A>ETOPMed
rs92551142015A>TTOPMed
gnomAD
rs208628762616P>AEnsembl
rs122840437917W>RgnomAD
rs208628756718P>LTOPMed
gnomAD
rs208628743820E>DTOPMed
rs125982094421P>HTOPMed
gnomAD
rs125982094421P>LTOPMed
gnomAD
rs208628741521P>TTOPMed
rs208628735622A>EEnsembl
rs134804311122A>TEnsembl
rs120201977123P>LTOPMed
gnomAD
rs134812968324F>L1000Genomes
gnomAD
rs118569025825Y>H1000Genomes
gnomAD
rs118569025825Y>N1000Genomes
gnomAD
rs139647145126E>DTOPMed
gnomAD
rs147817664726E>QTOPMed
gnomAD
rs119123305927P>ATOPMed
gnomAD
rs208628707227P>LEnsembl
rs117474992028G>SEnsembl
rs130540479129R>GgnomAD
rs76780184729R>PExAC
gnomAD
rs76780184729R>QExAC
gnomAD
rs95536129430A>ETOPMed
rs208628683631G>AEnsembl
rs208628679432K>EgnomAD
rs208628677432K>RgnomAD
rs144519527633P>LgnomAD
rs215449611833P>TEnsembl
rs120078602835R>HgnomAD
rs208628657136G>REnsembl
TCGA novel37A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs127839664638E>K1000Genomes
gnomAD
rs127839664638E>Q1000Genomes
gnomAD
rs77112983539P>AExAC
TOPMed
gnomAD
rs77112983539P>SExAC
TOPMed
gnomAD
rs129990698441A>SgnomAD
COSV9985478143G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs89777114043G>VTOPMed
gnomAD
rs134689566245P>ATOPMed
rs77671926545P>LExAC
gnomAD
rs134689566245P>STOPMed
rs103800589546G>VTOPMed
gnomAD
rs208628614247A>VTOPMed
gnomAD
rs100607401548A>STOPMed
gnomAD
rs119650667149A>PTOPMed
gnomAD
rs143371120849A>VVariant of uncertain significance (Ensembl)gnomAD
rs139031083950P>LgnomAD
rs74684967351A>SExAC
TOPMed
rs74684967351A>TExAC
TOPMed
rs208628568052M>TTOPMed
rs77966669652M>VExAC
gnomAD
rs77846656155D>EExAC
TOPMed
gnomAD
rs19980855755D>NVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs117211460957S>RTOPMed
gnomAD
rs215449610557S>REnsembl
rs75674794858A>SExAC
gnomAD
rs76459096859I>MExAC
gnomAD
rs208628544159I>VTOPMed
gnomAD
rs20131413061F>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs137300247561F>YTOPMed
gnomAD
rs133933457262S>RgnomAD
rs75315236163A>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
TCGA novel64Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs208628510166D>AgnomAD
rs141880662867S>CgnomAD
rs75986915768M>IExAC
gnomAD
rs76774123868M>TExAC
gnomAD
COSV9985575368M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs141384025069A>STOPMed
gnomAD
COSV5239005769A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs208628484370A>VTOPMed
rs117194108471V>LgnomAD
rs76664747872P>RExAC
gnomAD
rs76865887175E>DExAC
gnomAD
rs125520579275E>GVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs208628452275E>KEnsembl
rs208628419279D>NgnomAD
rs125484157980E>KgnomAD
rs208628404081L>PgnomAD
rs92557551982F>STOPMed
rs122658985283A>TTOPMed
gnomAD
rs36805281984D>NESP
gnomAD
rs208628355787N>SEnsembl
rs37429502989N>SESP
ExAC
TOPMed
gnomAD
rs122934826990H>QTOPMed
gnomAD
rs11372509091K>NVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs125389625591K>RTOPMed
rs143939624692A>ETOPMed
gnomAD
rs143939624692A>GTOPMed
gnomAD
rs77855059592A>TExAC
gnomAD
rs143939624692A>VTOPMed
gnomAD
TCGA novel93G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs75683804494G>SExAC
gnomAD
rs77724153195A>SExAC
TOPMed
gnomAD
rs77724153195A>TExAC
TOPMed
gnomAD
rs75668281295A>VExAC
TOPMed
gnomAD
rs139333804696G>EgnomAD
rs147276452396G>RTOPMed
gnomAD
rs122534096397P>LgnomAD
rs141044542897P>SgnomAD
rs124741779398L>PgnomAD
rs138137897899E>GgnomAD
rs95547625299E>QTOPMed
rs2086282098100L>FEnsembl
rs2086282045101L>F1000Genomes
TOPMed
rs1215601971101L>RgnomAD
rs1695588004102P>HTOPMed
rs1467549103102P>SgnomAD
rs963011722103G>D1000Genomes
TOPMed
gnomAD
rs1319031887104G>DTOPMed
gnomAD
rs1319031887104G>VTOPMed
gnomAD
rs561689866105P>L1000Genomes
ExAC
gnomAD
rs766735701105P>S1000Genomes
ExAC
TOPMed
gnomAD
rs1372123820106A>VTOPMed
gnomAD
rs2086281399107R>CEnsembl
rs2086281343107R>HTOPMed
rs1442408595108P>HgnomAD
rs1442408595108P>LgnomAD
rs1325063513111P>LTOPMed
gnomAD
rs1325063513111P>QTOPMed
gnomAD
rs1325063513111P>RTOPMed
gnomAD
rs1260286682111P>STOPMed
rs2086281040112G>DTOPMed
rs2086280881113P>RTOPMed
gnomAD
rs759331352115A>SExAC
TOPMed
gnomAD
rs759331352115A>TExAC
TOPMed
gnomAD
rs549496037116P>A1000Genomes
ExAC
gnomAD
rs1381307615117R>CTOPMed
gnomAD
rs1381307615117R>GTOPMed
gnomAD
rs2154496077118L>PEnsembl
rs2086280225119L>REnsembl
rs770594712121R>CExAC
gnomAD
rs770594712121R>GExAC
gnomAD
rs1252923377122E>*TOPMed
gnomAD
rs1189850742122E>DgnomAD
rs1252923377122E>KTOPMed
gnomAD
rs1013357162123P>ATOPMed
gnomAD
rs1013357162123P>STOPMed
gnomAD
rs2086279834124D>ETOPMed
rs2086279890124D>HEnsembl
rs896261144125W>GTOPMed
gnomAD
rs1186674184128G>STOPMed
gnomAD
rs1052588734129D>EgnomAD
rs531462162129D>H1000Genomes
TOPMed
gnomAD
rs1215474358130A>TgnomAD
rs935024096130A>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1202956802131P>HTOPMed
gnomAD
rs1202956802131P>LTOPMed
gnomAD
rs1259183702131P>SgnomAD
rs1473958515132G>DVariant of uncertain significance (Ensembl)TOPMed
rs1399728714135L>FTOPMed
rs2086278574136P>HgnomAD
rs1368236994136P>STOPMed
gnomAD
rs1360675738137A>VTOPMed
gnomAD
rs1281328750143A>SgnomAD
rs1563717001145T>SEnsembl
rs1452722828148S>IgnomAD
rs1376305340152A>TgnomAD
rs2086277372153G>ETOPMed
gnomAD
rs2086277372153G>VTOPMed
gnomAD
rs2086277334155P>STOPMed
rs2086277334155P>TTOPMed
rs2086277295156T>SgnomAD
rs1280269497157P>LTOPMed
gnomAD
rs2086277222157P>TTOPMed
gnomAD
rs918699325158P>LTOPMed
rs2154496057161P>TEnsembl
rs2154496055162E>GEnsembl
rs1469365596162E>KTOPMed
gnomAD
rs545658644163P>L1000Genomes
gnomAD
rs545658644163P>R1000Genomes
gnomAD
rs1589675070163P>SEnsembl
rs973201486164P>LTOPMed
gnomAD
rs973201486164P>QTOPMed
gnomAD
rs973201486164P>RTOPMed
gnomAD
rs962752316165R>CTOPMed
gnomAD
rs2086276576166S>NTOPMed
rs2086276533167S>GEnsembl
rs1017310803167S>ITOPMed
gnomAD
rs1017310803167S>NTOPMed
gnomAD
rs2086276533167S>REnsembl
rs2086276423167S>RTOPMed
gnomAD
rs867621033168P>ATOPMed
gnomAD
rs867621033168P>STOPMed
gnomAD
rs777407313169R>GLikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1431514229170Q>KTOPMed
rs1171195316170Q>RgnomAD
rs769172758171T>IVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs769172758171T>NVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1296699986172P>STOPMed
rs1186313238173A>PgnomAD
rs578188520173A>VVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1212650949174P>AVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1303094726174P>LTOPMed
gnomAD
rs1212650949174P>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1345266281175G>DTOPMed
gnomAD
rs2086275764175G>RTOPMed
rs1023496807176P>LTOPMed
gnomAD
rs200641900177A>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1460189350177A>TTOPMed
gnomAD
rs751992177178R>QExAC
TOPMed
gnomAD
rs2086275397179E>AEnsembl
rs1309209595179E>KTOPMed
gnomAD
rs1309209595179E>QTOPMed
gnomAD
rs2086275351180K>RTOPMed
rs1254515068181S>C1000Genomes
TOPMed
rs1254515068181S>G1000Genomes
TOPMed
rs780541037181S>NExAC
TOPMed
gnomAD
rs780541037181S>TExAC
TOPMed
gnomAD
rs2154496050182A>SEnsembl
rs750673306183G>CExAC
gnomAD
rs750673306183G>RExAC
gnomAD
rs750673306183G>SExAC
gnomAD
rs2086275079184K>QTOPMed
rs1355920699184K>RgnomAD
rs1314471971186G>CgnomAD
rs761817545186G>DExAC
gnomAD
rs761817545186G>VExAC
gnomAD
rs1375037543187P>LTOPMed
gnomAD
TCGA novel188D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2086274713189R>CTOPMed
rs767389697190G>RExAC
TOPMed
gnomAD
rs767389697190G>SExAC
TOPMed
gnomAD
rs759423146191S>GExAC
gnomAD
rs770705158195R>LExAC
TOPMed
gnomAD
rs770705158195R>PExAC
TOPMed
gnomAD
COSV99854014
rs770705158
195R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1256303661197R>QgnomAD
rs2086274250197R>WEnsembl
rs772748708199E>DExAC
TOPMed
gnomAD
rs1168596386199E>KTOPMed
gnomAD
rs1441914974200R>CTOPMed
gnomAD
rs541685864203I>V1000Genomes
gnomAD
rs1335366163206R>HgnomAD
rs371024952207K>*ESP
TOPMed
gnomAD
rs769334462207K>RExAC
gnomAD
rs747489027208S>NExAC
gnomAD
rs1274471352210D>HTOPMed
gnomAD
rs746185483211K>RExAC
TOPMed
gnomAD
rs1462467757212A>TgnomAD
rs1397276773212A>VgnomAD
rs779011097214R>WExAC
gnomAD
rs1475050615215R>HTOPMed
gnomAD
rs757464546216N>IExAC
gnomAD
rs1420486078217Q>EgnomAD
rs11539254217Q>LVariant of uncertain significance (Ensembl)TOPMed
rs11539254217Q>RVariant of uncertain significance (Ensembl)TOPMed
rs1247859798218E>ATOPMed
gnomAD
rs1191684134218E>DTOPMed
gnomAD
TCGA novel218E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs754972536219M>IExAC
TOPMed
gnomAD
rs764213974219M>VExAC
TOPMed
gnomAD
rs751481924220Q>EExAC
TOPMed
gnomAD
rs2086272192220Q>PEnsembl
rs1002469612221Q>EEnsembl
rs1279912228221Q>HTOPMed
gnomAD
rs766243018221Q>RExAC
gnomAD
rs2086271921222K>QTOPMed
rs1306429358224V>ATOPMed
gnomAD
rs1306429358224V>ETOPMed
gnomAD
rs1334174773224V>LgnomAD
rs1334174773224V>MgnomAD
rs1441668542225E>VTOPMed
gnomAD
rs2086271410228A>TEnsembl
rs1373843175229E>DTOPMed
gnomAD
rs1272509153231E>DgnomAD
rs1466922393231E>KgnomAD
rs1461374113234H>RgnomAD
rs1160631093235Q>KgnomAD
rs2086270845236R>CTOPMed
rs372603656236R>HVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1177485963238E>GTOPMed
gnomAD
rs2086270655238E>KEnsembl
rs776042936239Q>*ExAC
TOPMed
gnomAD
rs776042936239Q>EExAC
TOPMed
gnomAD
rs747578653239Q>HExAC
TOPMed
gnomAD
rs1450942929240L>HgnomAD
rs776154073240L>VExAC
TOPMed
gnomAD
rs2086270255242R>WTOPMed
rs1206635286243D>HTOPMed
gnomAD
rs1206635286243D>NTOPMed
gnomAD
rs1206635286243D>YTOPMed
gnomAD
rs1249733434244L>VTOPMed
gnomAD
rs746253683246G>DExAC
gnomAD
rs1235117737246G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs1301321465248R>QTOPMed
gnomAD
VAR_037087
rs34948549
248R>WVariant of uncertain significance (Ensembl)UniProt
TOPMed
dbSNP
gnomAD
rs779290520249Q>RExAC
TOPMed
gnomAD
rs1297920264252K>EVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1380835375252K>NgnomAD
rs757472292252K>RExAC
TOPMed
gnomAD
rs749518684253Q>HExAC
TOPMed
gnomAD
rs537387769254L>MExAC
gnomAD
rs1370665503255P>ATOPMed
gnomAD
TCGA novel255P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2086268939255P>RTOPMed
rs1370665503255P>STOPMed
gnomAD
rs752703091256S>GExAC
gnomAD
rs766334986256S>IExAC
gnomAD
rs752703091256S>RExAC
gnomAD
rs758306982256S>RExAC
gnomAD
rs1484117605257P>SEnsembl
rs750232943258P>HExAC
TOPMed
gnomAD
rs918710392258P>STOPMed
gnomAD
rs765048834261P>LExAC
TOPMed
gnomAD
rs765048834261P>RExAC
TOPMed
gnomAD
rs1211937785263A>SgnomAD
rs1211937785263A>TgnomAD
rs776334795263A>VExAC
TOPMed
gnomAD
rs2154496019266A>TEnsembl
rs2086267964266A>VEnsembl
rs775104747267D>HExAC
gnomAD
rs1280978984268C>*TOPMed
rs970005166269R>QTOPMed
gnomAD
rs1225873890269R>WTOPMed
gnomAD
rs2086267581270*>KTOPMed
rs2086267581270*>QTOPMed
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