E9PQF3 · E9PQF3_HUMAN

  • Protein
    Regulation of nuclear pre-mRNA domain containing 1B
  • Gene
    RPRD1B
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

16051015202530354045505560
MSSFSESALEKKLSELSNSQQSVQTLSLWLIHHRKHAGPIVSVWHRELRKERQMKAVKNL
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs5696039672S>FgnomAD
rs5404577243S>C1000Genomes
ExAC
gnomAD
rs5404577243S>F1000Genomes
ExAC
gnomAD
rs20739620874F>STOPMed
gnomAD
rs1483168047S>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs207396252514S>LTOPMed
rs76000656718N>SExAC
TOPMed
gnomAD
rs207396274518N>YTOPMed
rs1785318221Q>HEnsembl
rs20055931823V>M1000Genomes
ExAC
gnomAD
rs207396322727S>AEnsembl
rs119060552036H>DgnomAD
rs139092457237A>VTOPMed
gnomAD
rs122294274438G>RTOPMed
gnomAD
rs76781595239P>AExAC
TOPMed
gnomAD
rs77606394439P>LExAC
gnomAD
rs77606394439P>RExAC
gnomAD
rs76781595239P>SExAC
TOPMed
gnomAD
rs212267835540I>T1000Genomes
rs136124094140I>VgnomAD
rs75426059849R>CExAC
TOPMed
gnomAD
rs207396451150K>REnsembl
rs212270638953Q>HEnsembl
rs77899779055K>TExAC
gnomAD
rs207414159356A>SEnsembl
rs75034446060L>HExAC
TOPMed
gnomAD
rs128476116461*>WTOPMed
gnomAD
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