Q969G6 · RIFK_HUMAN

  • Protein
    Riboflavin kinase
  • Gene
    RFK
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

115520406080100120140
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs14196557882R>KTOPMed
gnomAD
rs14196557882R>TTOPMed
gnomAD
COSV100946894
rs1822859719
3H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
rs7789871194L>QExAC
gnomAD
rs13592265514L>VgnomAD
rs11856991545P>LgnomAD
rs13682452695P>SgnomAD
rs15873935086Y>CEnsembl
rs7775735597F>LExAC
gnomAD
rs1482890487F>VESP
ExAC
TOPMed
gnomAD
rs7551855318C>*ExAC
TOPMed
gnomAD
rs7551855318C>WExAC
TOPMed
gnomAD
rs11929937248C>YgnomAD
rs12821266479R>GgnomAD
rs12821266479R>WgnomAD
rs135121766110G>DgnomAD
rs120681034910G>SgnomAD
rs55821157713V>MExAC
TOPMed
gnomAD
rs75043549515G>DExAC
gnomAD
COSV10094690115G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs213155621417G>D1000Genomes
rs77522926117G>SEnsembl
rs98504540418R>CTOPMed
rs36802994319G>SESP
TOPMed
gnomAD
rs132092483820S>FgnomAD
rs76200912821K>EExAC
TOPMed
gnomAD
rs77669201521K>RExAC
gnomAD
rs14784541625I>VESP
ExAC
TOPMed
gnomAD
rs124297622327T>IEnsembl
rs141890220828A>SgnomAD
rs130692362733Q>*TOPMed
rs213155524435V>IEnsembl
rs132976281937N>DTOPMed
gnomAD
rs182283202138L>ITOPMed
gnomAD
rs11476993939P>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs158739259340A>PEnsembl
rs182283190941D>GTOPMed
rs102936804542I>LTOPMed
rs117168621842I>MgnomAD
rs126434862442I>TTOPMed
gnomAD
rs102936804542I>VTOPMed
rs14907776543S>FVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs77279233644T>IExAC
TOPMed
gnomAD
rs77279233644T>SExAC
TOPMed
gnomAD
rs126043989545G>STOPMed
gnomAD
rs14495455946I>VESP
ExAC
TOPMed
gnomAD
rs78087939547Y>CExAC
TOPMed
gnomAD
rs146838532648Y>CTOPMed
gnomAD
rs120476169749G>SgnomAD
rs144140602949G>VgnomAD
COSV10094691352S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs121366146952S>GTOPMed
gnomAD
rs36854212252S>IESP
ExAC
TOPMed
gnomAD
rs77649705353V>ITOPMed
gnomAD
rs37435396554G>EESP
TOPMed
rs75780046454G>RExAC
TOPMed
gnomAD
rs20062790659H>RTOPMed
gnomAD
rs14989378761M>TESP
TOPMed
gnomAD
rs182283076863V>MEnsembl
rs182283070665I>VTOPMed
gnomAD
COSV10094688468N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs75379780369P>LExAC
TOPMed
gnomAD
rs75379780369P>RExAC
TOPMed
gnomAD
TCGA novel69P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs75632375270Y>HExAC
TOPMed
gnomAD
rs182283051672K>RTOPMed
rs182283048373N>STOPMed
rs182283044274T>ATOPMed
rs75294697974T>MExAC
TOPMed
gnomAD
rs140988526075K>NgnomAD
rs75139255777S>TExAC
TOPMed
gnomAD
rs77308945978M>IExAC
gnomAD
rs7864845478M>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs96855167080T>AgnomAD
TCGA novel
rs1822775532
80T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
gnomAD
rs77130725581H>QExAC
TOPMed
gnomAD
rs77044882883M>IExAC
TOPMed
gnomAD
rs77373198283M>TExAC
gnomAD
rs132750201683M>VgnomAD
rs20171216084H>LExAC
TOPMed
gnomAD
rs20171216084H>PExAC
TOPMed
gnomAD
rs78142599984H>QVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs20171216084H>RExAC
TOPMed
gnomAD
rs75517570585T>SExAC
TOPMed
gnomAD
rs182277487086F>STOPMed
gnomAD
rs145304104489D>EgnomAD
rs15073096989D>NESP
TOPMed
gnomAD
rs182277466190F>LTOPMed
gnomAD
rs125521380890F>VgnomAD
rs74724052991Y>CExAC
TOPMed
gnomAD
TCGA novel93E>G
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs36766963894I>TESP
ExAC
gnomAD
rs130813654496N>DgnomAD
rs139831898296N>STOPMed
gnomAD
rs1784510597V>AgnomAD
rs1784510597V>GgnomAD
rs75327520498A>TExAC
TOPMed
gnomAD
rs130529243698A>VgnomAD
COSV65060848100V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel104R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1036068570105P>LTOPMed
gnomAD
COSV65060732
rs76023381
107K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
gnomAD
rs1272212207108N>KTOPMed
rs2131553452108N>SEnsembl
rs775179444109F>SExAC
gnomAD
COSV100946909110D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV65061101111S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel112L>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs140199557112L>SESP
ExAC
TOPMed
gnomAD
rs767141912114S>LExAC
gnomAD
rs1324145446116I>TgnomAD
rs564478804117S>L1000Genomes
ExAC
TOPMed
gnomAD
rs1002661496118A>PEnsembl
rs1002661496118A>SEnsembl
rs765682532118A>VExAC
TOPMed
gnomAD
rs906954735119I>SEnsembl
rs762317040120Q>*ExAC
gnomAD
rs1474450532121G>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV65060706122D>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV65061203
rs1822754315
123I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
rs1822754176126A>DTOPMed
gnomAD
rs1013183068126A>TEnsembl
rs1822754046129R>*Ensembl
rs146146902129R>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146146902129R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776717989130L>IVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs746082841131E>DExAC
gnomAD
rs376265828133P>LESP
ExAC
gnomAD
rs376265828133P>QESP
ExAC
gnomAD
rs376265828133P>RESP
ExAC
gnomAD
TCGA novel134E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1822753433135H>RTOPMed
rs756021800136L>FExAC
gnomAD
rs777639941136L>WExAC
gnomAD
TCGA novel137K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1370738938139K>RgnomAD
COSV65061245141D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel
rs1822753134
142N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
Ensembl
rs1331942192143F>LgnomAD
rs1587390193146V>AEnsembl
rs1822753001149S>IEnsembl
COSV65060870149S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1822752947151I>VTOPMed
rs1328411135152M>KgnomAD
rs370201390152M>VESP
rs1822752813153N>DgnomAD
rs754574191155H>RExAC
TOPMed
gnomAD
rs780563876155H>YVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs947917407156*>RTOPMed
gnomAD
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