Q5SVM7 · Q5SVM7_HUMAN

  • Protein
    Ribosomal protein S6 kinase A1
  • Gene
    RPS6KA1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

1115102030405060708090100110
NTVSETAKDLVSKMLHVDPHQRLTAKQVLQHPWVTQKDKLPQSQLSHQDLQLVKGAMAATYSALNSSKPTPQLKPIESSILAQRRVRKLPSTTLMDSSRLRLCWWKAIHCINFFL
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs14862252121N>DTOPMed
gnomAD
rs14862252121N>STOPMed
gnomAD
rs20762561312T>RgnomAD
rs13404184555E>AgnomAD
rs13404184555E>DgnomAD
rs7522984247A>VTOPMed
gnomAD
rs14477460269D>VTOPMed
rs119566086810L>QTOPMed
rs121879132312S>CTOPMed
gnomAD
rs77993887812S>FExAC
gnomAD
rs121879132312S>FTOPMed
gnomAD
rs126666940113K>ETOPMed
gnomAD
rs75112585313K>NExAC
gnomAD
rs126666940113K>RTOPMed
gnomAD
rs75112585314M>LExAC
gnomAD
rs119821389515L>RgnomAD
rs8002456716H>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs78060983416H>QExAC
TOPMed
gnomAD
rs78060983417V>MExAC
TOPMed
gnomAD
rs115723437318D>YgnomAD
rs36828274619P>AESP
ExAC
TOPMed
gnomAD
rs142067651119P>LTOPMed
gnomAD
rs36828274619P>RESP
ExAC
TOPMed
gnomAD
rs146755523120H>LTOPMed
gnomAD
rs76943792921Q>HExAC
TOPMed
gnomAD
rs76943792922R>CExAC
TOPMed
gnomAD
rs77804809722R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs77804809722R>PExAC
TOPMed
gnomAD
rs77804809722R>SExAC
TOPMed
gnomAD
rs138576121023L>FgnomAD
rs74963154927Q>HExAC
gnomAD
rs207626625828V>AgnomAD
rs74963154928V>FExAC
gnomAD
rs144403970229L>QgnomAD
rs77163230230Q>HExAC
gnomAD
rs77498803630Q>HExAC
gnomAD
rs77163230230Q>LExAC
gnomAD
rs77498803631H>YExAC
gnomAD
rs136345030632P>RTOPMed
gnomAD
rs76006421533W>*ExAC
gnomAD
rs77228273734V>DExAC
gnomAD
rs76006421534V>IExAC
gnomAD
rs77560082735T>AExAC
rs130463263937K>RTOPMed
rs135550533039K>EgnomAD
rs135550533039K>RgnomAD
COSV65176538
rs2076266580
41P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs120934216642Q>EgnomAD
rs14589318042Q>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs115650424743S>CgnomAD
rs207626672543S>ITOPMed
rs115650424743S>IgnomAD
rs115650424743S>RgnomAD
rs115650424743S>TgnomAD
rs212467534644Q>HEnsembl
rs212467534644Q>LEnsembl
rs207626675445L>QTOPMed
COSV65177867
rs918527886
46S>Fcosmic curated
TOPMed
gnomAD
rs145339739246S>YgnomAD
rs117706687047H>LTOPMed
gnomAD
rs207626683747H>YTOPMed
rs207626688951Q>*TOPMed
rs144073980751Q>HgnomAD
rs207626688951Q>LTOPMed
rs144073980752L>FgnomAD
rs76435909252L>PExAC
gnomAD
rs135155682253V>MEnsembl
rs207626700254K>EEnsembl
rs207626700254K>REnsembl
rs77692226155G>EExAC
TOPMed
gnomAD
rs116929691955G>RTOPMed
gnomAD
rs77692226155G>RExAC
TOPMed
gnomAD
rs76195186356A>SExAC
gnomAD
rs212467650957M>IEnsembl
rs130070984257M>LTOPMed
gnomAD
rs130070984257M>TTOPMed
gnomAD
rs118157463257M>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs212467650958A>PEnsembl
rs20112521460T>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV65176897
rs367842246
60T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs36784224660T>SESP
ExAC
TOPMed
gnomAD
rs14438971962S>F1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75221554463A>GExAC
TOPMed
gnomAD
rs207627506363A>GTOPMed
rs76745658963A>PExAC
TOPMed
gnomAD
COSV65177985
rs767456589
63A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs75221554463A>VExAC
TOPMed
gnomAD
rs127757849864L>FgnomAD
rs75563649365N>DExAC
TOPMed
gnomAD
rs207627522265N>IEnsembl
rs75563649365N>SExAC
TOPMed
gnomAD
rs207627535766S>IEnsembl
rs148315802166S>RgnomAD
rs76345595066S>RExAC
gnomAD
rs75354525166S>RExAC
gnomAD
rs75354525166S>TExAC
gnomAD
rs148315802167S>AgnomAD
rs207627541267S>FgnomAD
rs120135876468K>QgnomAD
rs120135876468K>TgnomAD
rs157046967569P>TEnsembl
rs157046968270T>ATOPMed
rs75693128970T>IExAC
gnomAD
rs75693128970T>NExAC
gnomAD
COSV65176628
rs1570469682
70T>Pcosmic curated
TOPMed
rs75693128970T>SExAC
gnomAD
rs77944409571P>AExAC
TOPMed
gnomAD
rs222971371P>H1000Genomes
ExAC
TOPMed
gnomAD
rs222971371P>R1000Genomes
ExAC
TOPMed
gnomAD
rs77944409571P>RExAC
TOPMed
gnomAD
COSV65176304
rs922297352
71P>Scosmic curated
gnomAD
rs92229735271P>TgnomAD
COSV107477975
rs559733751
72Q>*cosmic curated
ExAC
TOPMed
gnomAD
rs55973375172Q>EExAC
TOPMed
gnomAD
rs76878174272Q>HExAC
gnomAD
rs55973375172Q>KExAC
TOPMed
gnomAD
rs207627580072Q>PTOPMed
rs76878174273L>VExAC
gnomAD
rs74838907174K>NExAC
TOPMed
gnomAD
rs74838907174K>TExAC
TOPMed
gnomAD
rs130431991175P>LgnomAD
rs76998080376I>NExAC
TOPMed
gnomAD
rs52908415977E>K1000Genomes
ExAC
TOPMed
gnomAD
rs52908415977E>Q1000Genomes
ExAC
TOPMed
gnomAD
rs75932122181L>QExAC
gnomAD
rs207627609483Q>*TOPMed
rs76741208783Q>HExAC
gnomAD
rs77551283084R>LExAC
TOPMed
gnomAD
rs77551283084R>QExAC
TOPMed
gnomAD
rs77551283084R>WExAC
TOPMed
gnomAD
COSV65176200
rs767412087
84R>Wcosmic curated
ExAC
gnomAD
COSV65176367
rs1299522537
85R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs76369271087R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs148759742289L>*gnomAD
rs75335108989L>FExAC
gnomAD
rs75702297190P>LExAC
TOPMed
gnomAD
rs75702297190P>QExAC
TOPMed
gnomAD
rs207627637490P>RTOPMed
rs75335108990P>SExAC
gnomAD
rs75702297190P>SExAC
TOPMed
gnomAD
rs75702297190P>TExAC
TOPMed
gnomAD
rs207627640391S>FEnsembl
rs212467672792T>AEnsembl
rs148658380492T>ITOPMed
gnomAD
rs212467672792T>SEnsembl
rs104925342993T>STOPMed
rs118890698094L>PTOPMed
gnomAD
rs118890698094L>QTOPMed
gnomAD
rs76068678895M>IExAC
gnomAD
rs76845719795M>IExAC
gnomAD
rs76068678895M>KExAC
gnomAD
rs207627825895M>VEnsembl
rs11170949496D>EEnsembl
rs76845719796D>YExAC
gnomAD
rs11170949497S>AEnsembl
rs77632409298S>FExAC
gnomAD
rs37254700199R>LESP
ExAC
TOPMed
gnomAD
rs37254700199R>PESP
ExAC
TOPMed
gnomAD
rs37254700199R>QESP
ExAC
TOPMed
gnomAD
rs37254700199R>WESP
ExAC
TOPMed
gnomAD
rs137489776499R>WTOPMed
gnomAD
rs765045089101R>GExAC
gnomAD
rs1570470173101R>KEnsembl
rs1227169309101R>MTOPMed
gnomAD
rs1227169309101R>STOPMed
gnomAD
rs1227169309101R>TTOPMed
gnomAD
rs1322949552102L>RTOPMed
gnomAD
rs2076278593103C>FTOPMed
rs1570470189103C>SEnsembl
rs1570470189103C>YEnsembl
rs377553777104W>*ESP
gnomAD
rs1289771861104W>RgnomAD
rs1214987697105W>*gnomAD
rs1214987697105W>CgnomAD
rs1214987697105W>LgnomAD
rs762469570107A>EExAC
TOPMed
gnomAD
rs573306741107A>S1000Genomes
ExAC
TOPMed
gnomAD
rs573306741107A>V1000Genomes
ExAC
TOPMed
gnomAD
rs762469570107A>VExAC
TOPMed
gnomAD
rs2076278758108I>FTOPMed
rs1570470231108I>NEnsembl
rs766786231109H>DExAC
TOPMed
gnomAD
rs1234330703109H>LgnomAD
rs751845077109H>QExAC
TOPMed
gnomAD
rs766786231109H>RExAC
TOPMed
gnomAD
rs1414401259110C>*TOPMed
gnomAD
rs755547404110C>RExAC
gnomAD
rs755547404110C>SExAC
gnomAD
rs751845077110C>SExAC
TOPMed
gnomAD
rs1414401259110C>STOPMed
gnomAD
rs781660914110C>WExAC
gnomAD
rs755547404110C>YExAC
gnomAD
rs1414401259110C>YTOPMed
gnomAD
rs781660914111I>VExAC
gnomAD
rs2076278982112N>DEnsembl
rs12118436112N>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2076278982112N>SEnsembl
rs12118436112N>Y1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1398389378114F>SgnomAD
rs751286481115L>*ExAC
gnomAD
rs2076279103115L>*Ensembl
rs751286481115L>IExAC
gnomAD
rs2076279127116*>GgnomAD
rs2124677160116*>LEnsembl
rs2076279127116*>WgnomAD
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