A0A0G2JJT9 · A0A0G2JJT9_HUMAN

  • Protein
    Valyl-tRNA synthetase 1
  • Gene
    VARS1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

117420406080100120140160
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7628278142S>TExAC
gnomAD
rs7709667562S>YExAC
TOPMed
gnomAD
rs14048060383T>SgnomAD
rs10377680817S>YEnsembl
rs132634852210P>STOPMed
gnomAD
rs136738306014P>LgnomAD
rs119232090917R>LTOPMed
gnomAD
rs77937353619L>FExAC
gnomAD
rs127682007420I>MTOPMed
rs76919558120I>VExAC
gnomAD
rs90766849422A>TTOPMed
gnomAD
rs18599009823R>L1000Genomes
ExAC
TOPMed
gnomAD
rs181418957325G>RTOPMed
rs75557013727A>SExAC
TOPMed
gnomAD
rs75557013727A>TExAC
TOPMed
gnomAD
rs135995108128G>RgnomAD
rs121956342329E>KTOPMed
gnomAD
rs74988696231P>HExAC
gnomAD
rs75014159732G>*ExAC
TOPMed
gnomAD
rs75689167632G>EExAC
TOPMed
gnomAD
rs75689167632G>VExAC
TOPMed
gnomAD
rs136594284233W>CgnomAD
rs75119044336A>DExAC
gnomAD
rs117731576538P>HgnomAD
rs76385267338P>SExAC
gnomAD
rs76385267338P>TExAC
gnomAD
rs181418482939R>LTOPMed
rs76277481940I>SExAC
rs141649179743Q>LgnomAD
rs117249295845P>LgnomAD
rs142376739545P>SgnomAD
rs124803375746P>RTOPMed
gnomAD
rs76485274946P>SExAC
TOPMed
gnomAD
rs119013482847T>STOPMed
gnomAD
rs76521558449R>G1000Genomes
ExAC
TOPMed
gnomAD
rs124112502449R>TgnomAD
rs6760012251S>TLikely benign (Ensembl)Ensembl
rs275396051S>T1000Genomes
ExAC
TOPMed
gnomAD
rs215143773652F>VEnsembl
rs181417742054P>QEnsembl
rs129986025154P>SgnomAD
rs76914043555P>SExAC
gnomAD
rs78057559656R>HExAC
TOPMed
gnomAD
rs78057559656R>LExAC
TOPMed
gnomAD
rs145070748557L>MgnomAD
rs77026475457L>RExAC
TOPMed
rs74639067759A>VExAC
TOPMed
gnomAD
rs74663139061E>APathogenic (Ensembl)ExAC
gnomAD
rs75676583761E>KExAC
TOPMed
gnomAD
rs74663139061E>VPathogenic (Ensembl)ExAC
gnomAD
rs77746832162Q>RExAC
gnomAD
rs102518510963G>VTOPMed
gnomAD
rs145258030264P>LTOPMed
rs53989144464P>SExAC
TOPMed
gnomAD
rs76504786765G>CExAC
TOPMed
gnomAD
rs142532647567L>ITOPMed
gnomAD
rs75489726968W>SExAC
TOPMed
gnomAD
rs181416988270W>CgnomAD
rs145810546570W>RTOPMed
gnomAD
rs75377036571G>RExAC
gnomAD
rs101441754172A>TTOPMed
gnomAD
rs76760594973T>SExAC
gnomAD
rs120758991874A>TTOPMed
gnomAD
rs130698026877Q>*gnomAD
rs89601595679L>MTOPMed
gnomAD
rs181416380085G>EEnsembl
rs20095159685G>RExAC
TOPMed
gnomAD
rs181416356986G>CTOPMed
rs137747402786G>DgnomAD
rs77470607787P>SExAC
gnomAD
rs146003511289G>SgnomAD
rs181416140190S>CTOPMed
rs76326978491R>WExAC
gnomAD
rs74982957692A>ETOPMed
rs77595344892A>TExAC
TOPMed
gnomAD
rs141518615395L>FgnomAD
rs77046894995L>RExAC
TOPMed
gnomAD
rs74658016499W>RExAC
TOPMed
gnomAD
rs777278429100V>FExAC
TOPMed
gnomAD
rs777278429100V>LExAC
TOPMed
gnomAD
rs1814158751101S>CTOPMed
rs1814158089103A>DEnsembl
rs1562317390103A>TEnsembl
rs1266067934106E>KgnomAD
rs1814156854109P>REnsembl
rs1814156128110A>DEnsembl
rs778749570110A>PExAC
gnomAD
rs940733337111A>DTOPMed
rs753813335114A>EExAC
gnomAD
rs1405248208116L>MTOPMed
gnomAD
rs980564718122R>LgnomAD
rs980564718122R>QgnomAD
rs1814151594125A>TTOPMed
rs1814151356126Q>*Ensembl
rs759882605126Q>HExAC
TOPMed
gnomAD
rs1418380569128P>LgnomAD
rs1418380569128P>RgnomAD
rs1267933103129Q>EgnomAD
rs777181955129Q>HExAC
gnomAD
rs1814004829133G>REnsembl
rs527579646134A>D1000Genomes
ExAC
gnomAD
rs527579646134A>V1000Genomes
ExAC
gnomAD
rs752958092137R>WExAC
TOPMed
gnomAD
rs1259881363138A>VgnomAD
rs1814001796142L>FgnomAD
rs1428761910142L>STOPMed
rs754084598144E>AExAC
TOPMed
gnomAD
rs1814001162145W>RTOPMed
rs2151435241147R>LEnsembl
rs773749289150T>SExAC
TOPMed
gnomAD
rs1814000050151Y>DTOPMed
rs2151435221152L>SEnsembl
rs896350261153A>TTOPMed
rs1302004923153A>VgnomAD
rs566508743154G>A1000Genomes
TOPMed
rs566508743154G>E1000Genomes
TOPMed
rs566508743154G>V1000Genomes
TOPMed
rs143672420154G>WESP
ExAC
TOPMed
gnomAD
rs768130196156A>TExAC
gnomAD
rs1381453174157P>LgnomAD
rs1228465173158T>STOPMed
gnomAD
rs1002139015160A>TTOPMed
gnomAD
rs1813996021160A>VTOPMed
rs1813995426161D>ATOPMed
rs749005756161D>NExAC
TOPMed
gnomAD
rs1813994652163A>STOPMed
rs769757282164A>SExAC
TOPMed
gnomAD
rs769757282164A>TExAC
TOPMed
gnomAD
rs1169347135165V>AgnomAD
rs1169347135165V>DgnomAD
rs745766805166T>SExAC
gnomAD
rs1192676706167A>VTOPMed
gnomAD
rs148951521168L>SBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781343945168L>VExAC
gnomAD
rs1275936037172F>CgnomAD
rs779054420173R>*ExAC
gnomAD
rs1340784072173R>LTOPMed
gnomAD
rs1340784072173R>QTOPMed
gnomAD
rs1581662045174Y>*Ensembl
rs1813989820174Y>SEnsembl
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