J3KTJ6 · J3KTJ6_HUMAN

  • Protein
    Gamma-soluble NSF attachment protein
  • Gene
    NAPG
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

117720406080100120140160
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs12396609312S>*gnomAD
rs14262078064G>ATOPMed
gnomAD
rs14262078064G>ETOPMed
gnomAD
rs13113636714G>RTOPMed
gnomAD
rs20318170755E>GgnomAD
rs20318171436Q>*TOPMed
rs15984079736Q>REnsembl
rs14663752447H>RTOPMed
gnomAD
rs20318172387H>YEnsembl
rs11644328828R>CTOPMed
gnomAD
rs134821646310V>LTOPMed
gnomAD
rs139827461513H>YTOPMed
gnomAD
rs95211777714R>CTOPMed
rs128115227014R>HTOPMed
gnomAD
rs91596161116R>GTOPMed
gnomAD
rs203181792918A>PTOPMed
rs138045749219P>LTOPMed
gnomAD
rs95012835019P>STOPMed
gnomAD
rs203181841720C>FEnsembl
rs203181853822E>GEnsembl
rs203181859423G>REnsembl
rs125771279524T>ITOPMed
gnomAD
rs54516379124T>P1000Genomes
rs56826689725I>TTOPMed
rs203181898528P>LTOPMed
rs203181888228P>STOPMed
rs203181909529Q>*TOPMed
gnomAD
rs55429064829Q>P1000Genomes
TOPMed
gnomAD
rs135416810930K>*TOPMed
rs203181943431L>VEnsembl
rs93487184632L>FTOPMed
rs93487184632L>ITOPMed
rs203181971733G>DEnsembl
rs203181965533G>STOPMed
gnomAD
rs92132474335P>AEnsembl
rs92132474335P>SEnsembl
rs137472106437S>*TOPMed
gnomAD
rs137472106437S>LTOPMed
gnomAD
rs105509042438S>FTOPMed
gnomAD
rs203182003838S>PgnomAD
rs203182015739G>VTOPMed
rs203182022640I>SgnomAD
rs132300618242L>PgnomAD
rs136165130443S>FTOPMed
gnomAD
rs203182047043S>PEnsembl
rs159840800044L>PEnsembl
rs57230362444L>V1000Genomes
TOPMed
gnomAD
rs159840800145W>*gnomAD
rs203182091046A>STOPMed
rs203182091046A>TTOPMed
rs203182099146A>VgnomAD
rs136986023947G>ATOPMed
gnomAD
rs125961669148T>ITOPMed
gnomAD
rs125961669148T>STOPMed
gnomAD
rs93275397050L>FTOPMed
gnomAD
rs159840801051R>HEnsembl
rs159840801051R>PEnsembl
rs104883820652S>LTOPMed
gnomAD
rs203182161453S>FEnsembl
rs126583895654F>STOPMed
gnomAD
rs88843817355D>VEnsembl
rs203182178557Y>HTOPMed
rs88881996358V>DTOPMed
gnomAD
rs88881996358V>GTOPMed
gnomAD
rs128508775959L>VTOPMed
rs118149891560P>LTOPMed
gnomAD
rs118149891560P>RTOPMed
gnomAD
rs125024634860P>SgnomAD
rs141197540661P>LTOPMed
gnomAD
rs134874691761P>STOPMed
gnomAD
rs100865034562L>MTOPMed
gnomAD
rs100865034562L>VTOPMed
gnomAD
rs131120533464H>LTOPMed
gnomAD
rs203182243764H>YTOPMed
gnomAD
rs130891492266K>TgnomAD
rs138042391668G>CgnomAD
rs203191321268G>DTOPMed
gnomAD
COSV100529948
rs2031913212
68G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
gnomAD
rs49620770L>FEnsembl
rs156788771471K>REnsembl
rs74615059272W>RExAC
gnomAD
rs214309344374P>QEnsembl
rs75469992275D>GExAC
gnomAD
rs125431674876Y>HEnsembl
rs130572458177D>AgnomAD
rs156788774378S>NEnsembl
rs77200073780A>DExAC
gnomAD
COSV100529785
rs747977052
80A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs203191407081S>ATOPMed
rs146904372087A>GgnomAD
rs37405836388V>F1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs37405836388V>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_052027
rs2228300
92P>SUniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs77850384994K>*ExAC
TOPMed
gnomAD
rs77850384994K>EExAC
TOPMed
gnomAD
rs156788851794K>NEnsembl
rs128155034294K>RgnomAD
rs134512067195Q>HgnomAD
rs122446019296F>LTOPMed
gnomAD
rs97681204897E>GEnsembl
rs137403887899A>TTOPMed
gnomAD
rs2031953853100K>QEnsembl
rs868770047102A>VgnomAD
rs2031954064103C>*TOPMed
rs1259621209103C>RgnomAD
rs2031954064103C>WTOPMed
rs758279210105R>KExAC
TOPMed
gnomAD
rs1195225389108V>IgnomAD
rs1266280744109A>DgnomAD
rs777662420110H>NExAC
TOPMed
gnomAD
rs2031954623110H>REnsembl
rs777662420110H>YExAC
TOPMed
gnomAD
rs1309330650112N>DTOPMed
gnomAD
rs1309330650112N>HTOPMed
gnomAD
rs549735502112N>T1000Genomes
TOPMed
gnomAD
rs746984473113N>DVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs770419103113N>SExAC
gnomAD
rs866941274114R>GEnsembl
rs745457865114R>KExAC
TOPMed
gnomAD
rs745457865114R>TExAC
TOPMed
gnomAD
rs2031956020115A>SEnsembl
COSV59796723
rs916066691
115A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs2031972844117F>STOPMed
rs986211356121K>RTOPMed
rs2031992241123Y>*TOPMed
rs369364555123Y>*ESP
ExAC
TOPMed
gnomAD
rs556231385123Y>C1000Genomes
rs750377920124E>KExAC
gnomAD
rs1329961540125Q>RgnomAD
rs755620120126A>VExAC
gnomAD
rs1201546945127G>ATOPMed
gnomAD
COSV59798506
rs1201546945
127G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs1242414224129M>LgnomAD
rs1242414224129M>VgnomAD
rs1196689554133M>ITOPMed
gnomAD
rs756066810133M>TExAC
gnomAD
rs1364799856133M>VTOPMed
gnomAD
rs538664915134Q>E1000Genomes
ExAC
TOPMed
gnomAD
rs538664915134Q>K1000Genomes
ExAC
TOPMed
gnomAD
rs201039776140V>IVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1598411070141Q>EEnsembl
rs2032110117143I>MEnsembl
rs747839759144E>AExAC
gnomAD
TCGA novel
rs2032110188
144E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
rs747839759144E>VExAC
gnomAD
rs1486069639146A>GTOPMed
gnomAD
rs1282397170146A>TTOPMed
gnomAD
rs1259989042148M>IEnsembl
rs1331527211149M>ITOPMed
gnomAD
rs1235159835150Y>CTOPMed
gnomAD
rs1235159835150Y>FTOPMed
gnomAD
rs540194440151L>V1000Genomes
ExAC
gnomAD
rs1598411083153N>TEnsembl
rs2143120531154G>DEnsembl
rs776654594154G>SExAC
TOPMed
gnomAD
rs2143120531154G>VEnsembl
rs1598411086155T>PEnsembl
rs1268473091158T>AgnomAD
rs2032111851159A>PEnsembl
rs1453622559160A>TgnomAD
rs2032112136160A>VEnsembl
rs2032112209161M>LEnsembl
rs376946681162A>TVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs775659634162A>VExAC
TOPMed
gnomAD
rs2032112582164E>GEnsembl
rs763151146165R>*ExAC
TOPMed
gnomAD
rs763151146165R>GExAC
TOPMed
gnomAD
rs1384476965165R>QTOPMed
rs1567891305166A>GEnsembl
rs1158695722167G>RgnomAD
rs771889463168K>TExAC
gnomAD
rs922514402170I>MgnomAD
rs1190999019170I>TEnsembl
rs1333215778170I>VTOPMed
gnomAD
rs759601297172N>IExAC
gnomAD
rs2032116909174D>GgnomAD
rs1313555297174D>NgnomAD
rs1225607137175P>LgnomAD
rs764779608175P>SExAC
gnomAD
rs762630023176E>GExAC
gnomAD
rs1318970554177K>RgnomAD
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