D6RBB3 · D6RBB3_HUMAN

  • Protein
    Jade family PHD finger 1
  • Gene
    JADE1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

1131102030405060708090100110120130
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs17285766993R>*TOPMed
rs20583327234G>RTOPMed
rs11767821905R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
rs7661852735R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs7661852735R>PExAC
TOPMed
gnomAD
rs12600010016L>FTOPMed
gnomAD
rs17285782037P>AEnsembl
rs13146290537P>RgnomAD
rs7747796088S>TExAC
gnomAD
rs132351813010S>GEnsembl
rs36979489714D>E1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs172857968814D>YEnsembl
rs123594243515D>NTOPMed
rs14800711616N>SESP
ExAC
TOPMed
gnomAD
rs76421983821T>I1000Genomes
ExAC
rs55287278722T>AExAC
TOPMed
gnomAD
rs102972301123W>STOPMed
rs77423601327S>CTOPMed
COSV56903821
rs774236013
27S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
rs172957142628R>GTOPMed
rs37132017328R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs76568579829S>FExAC
TOPMed
gnomAD
rs128192864730Q>HgnomAD
rs212584939630Q>KEnsembl
rs75081876231H>RExAC
gnomAD
rs142306885232R>MgnomAD
rs78087545934S>NExAC
gnomAD
COSV56909921
rs1729574294
35S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs74782617235S>TExAC
gnomAD
rs133037474036C>GgnomAD
rs77733938737S>FExAC
rs74868601238R>GExAC
TOPMed
gnomAD
rs86675092838R>IEnsembl
rs14170490939H>LVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs77101125639H>NExAC
TOPMed
gnomAD
rs14170490939H>PVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs74569736739H>QExAC
gnomAD
rs14170490939H>RVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs77101125639H>YExAC
TOPMed
gnomAD
rs119386559440E>GTOPMed
gnomAD
rs121922150542R>GgnomAD
rs77196984242R>QExAC
gnomAD
rs123736656045S>AgnomAD
rs212584961246E>GEnsembl
rs76193343348F>LExAC
TOPMed
gnomAD
rs77377783259H>RExAC
gnomAD
rs94501286262Y>CTOPMed
gnomAD
rs104199502263Q>HTOPMed
rs36993752563Q>RESP
ExAC
TOPMed
gnomAD
rs75977572566P>LExAC
gnomAD
rs75197324466P>SExAC
gnomAD
rs75340937067D>VExAC
gnomAD
rs145067243970Y>CTOPMed
gnomAD
rs172988169072L>MTOPMed
rs143443289382K>REnsembl
rs77981765490P>LExAC
TOPMed
gnomAD
rs78153894392T>SExAC
gnomAD
rs37625586995Q>EESP
ExAC
gnomAD
rs172988584696P>LTOPMed
gnomAD
rs90302514397V>AEnsembl
rs36923692497V>LESP
ExAC
TOPMed
gnomAD
rs137799956598A>VgnomAD
COSV107313959
rs115545201
104E>Dcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2125861641106S>TEnsembl
rs373577859108M>TESP
ExAC
TOPMed
gnomAD
rs1176668175110I>FTOPMed
gnomAD
rs923960803111R>TEnsembl
rs1171327119112P>SgnomAD
rs747883572115Y>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs780856254115Y>HExAC
TOPMed
gnomAD
rs201738680116I>M1000Genomes
ExAC
TOPMed
gnomAD
rs1398406448116I>VTOPMed
gnomAD
rs749405711117V>MExAC
TOPMed
gnomAD
COSV99885618
rs1730117244
118S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
COSV56906446
rs1231040450
120G>Dcosmic curated
TOPMed
gnomAD
rs774979265121S>FExAC
TOPMed
gnomAD
rs1318457083121S>PgnomAD
rs2125861814123P>SEnsembl
rs865949490124P>LEnsembl
rs1730119124124P>STOPMed
gnomAD
rs1730120407125E>AgnomAD
rs552387202125E>K1000Genomes
ExAC
TOPMed
gnomAD
rs1730120957127G>DTOPMed
gnomAD
rs1268911238128Y>CTOPMed
gnomAD
rs1430931665129V>LgnomAD
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