U3KQN5 · U3KQN5_HUMAN

  • Protein
    Ribosome production factor 2 homolog
  • Gene
    RPF2
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

159510152025303540455055
MDTLDRVVKPKTKRAKRFLEKREPKLNENIKNAMLIKGGNANATVTKVLKDVEKYYKTF
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs17714413302D>GEnsembl
rs7507815192D>HExAC
gnomAD
rs1508261223T>ALikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs12609766883T>IgnomAD
rs12609766883T>SgnomAD
rs7465880774L>PExAC
TOPMed
gnomAD
rs7465880774L>RExAC
TOPMed
gnomAD
rs14897888954L>VTOPMed
gnomAD
rs1395561505D>GESP
ExAC
TOPMed
gnomAD
rs5750204676R>P1000Genomes
ExAC
TOPMed
gnomAD
rs15832547017V>GEnsembl
rs21142805727V>LEnsembl
rs12139887918V>GTOPMed
rs15623638348V>LTOPMed
rs21142863969K>NEnsembl
rs177150069910P>AEnsembl
rs123315956411K>ETOPMed
rs37460120912T>MESP
ExAC
TOPMed
gnomAD
rs37460120912T>RESP
ExAC
TOPMed
gnomAD
rs77870899112T>SExAC
gnomAD
rs92185972515A>VTOPMed
rs129029153816K>ETOPMed
gnomAD
rs177150111617R>KgnomAD
rs128095570018F>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs177150122618F>VTOPMed
gnomAD
rs148526992119L>FgnomAD
rs177150136820E>DEnsembl
rs76196726722R>KExAC
TOPMed
gnomAD
rs76196726722R>TExAC
TOPMed
gnomAD
rs77019965523E>KExAC
gnomAD
rs14428668224P>LESP
ExAC
TOPMed
gnomAD
rs74551581825K>NTOPMed
gnomAD
rs37376739726L>RESP
ExAC
TOPMed
gnomAD
rs144612627826L>VTOPMed
gnomAD
rs177150183028E>GEnsembl
rs75190985229N>TExAC
TOPMed
gnomAD
rs137661789333A>TTOPMed
gnomAD
COSV64369684
rs1436629810
33A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
rs143460049435L>RgnomAD
rs1154482437K>REnsembl
rs75225758239G>RExAC
TOPMed
gnomAD
VAR_033639
rs9320350
41A>GUniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs57387077842N>H1000Genomes
ExAC
TOPMed
gnomAD
rs75344413943A>SExAC
TOPMed
gnomAD
rs75344413943A>TExAC
TOPMed
gnomAD
rs96512574543A>VEnsembl
rs97694457444T>ITOPMed
gnomAD
rs77860606846T>RExAC
TOPMed
gnomAD
rs127491497648V>LTOPMed
gnomAD
rs77218628549L>FExAC
gnomAD
rs74830858552V>AExAC
gnomAD
rs74830858552V>GExAC
gnomAD
rs78013018552V>MExAC
gnomAD
rs117695652153E>GTOPMed
gnomAD
rs177162358053E>KEnsembl
rs77224018955Y>*ExAC
gnomAD
rs101687376257K>EEnsembl
rs37677837058T>AESP
ExAC
TOPMed
gnomAD
rs177162410759F>IgnomAD
rs177162410759F>LgnomAD
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