Q9BXJ4 · C1QT3_HUMAN

  • Protein
    Complement C1q tumor necrosis factor-related protein 3
  • Gene
    C1QTNF3
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

124620406080100120140160180200220240
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV514684974R>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51470150
COSV99180694
5Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5146932012L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs97124760313A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
COSV5146875117L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV106339609
rs371214613
18P>Scosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel20C>A
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV10722284520C>Fcosmic curated
COSV5146760420C>Scosmic curated
COSV5146807721L>Qcosmic curated
COSV99180709
rs750447263
27M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV5146764833G>*cosmic curated
COSV51468632
rs144925287
33G>Rcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV10633961537P>Scosmic curated
COSV10507790141K>Tcosmic curated
COSV10585584646D>Ycosmic curated
COSV51467791
rs759158354
50R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV5146791451G>Scosmic curated
COSV51468847
rs1397590725
54G>Acosmic curated
gnomAD
COSV5146923255P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel58P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs14299356059P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV5146864460G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468061
rs768912465
61P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV5146823463G>Vcosmic curated
COSV5147016766G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468465
COSV99180691
rs1255813346
69G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV51468465
COSV99180691
69G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel72G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel76A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV5146773878G>Scosmic curated
COSV5146758479H>Rcosmic curated
TCGA novel81G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel83K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel87G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV9918067588D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99180738
rs1754664479
90G>Dcosmic curated
TOPMed
TCGA novel91D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel92L>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV5146816994P>Lcosmic curated
COSV51467668
rs754470860
95R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV9918073795R>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel96G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV5146974097E>*cosmic curated
COSV51468513
rs750208893
98R>Qcosmic curated
ExAC
TOPMed
gnomAD
COSV51467683
rs1185713060
98R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV51467676100Q>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468453102G>Ccosmic curated
TCGA novel102G>W
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV51469681105G>Rcosmic curated
COSV51469764107K>Ncosmic curated
COSV51468743107K>Rcosmic curated
TCGA novel109Y>L
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV51469193109Y>Scosmic curated
COSV99180721111G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51469132111G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468479
rs1579605603
113P>Scosmic curated
Ensembl
COSV99180736
rs749754832
114P>Qcosmic curated
ExAC
gnomAD
COSV99180707115E>Gcosmic curated
COSV99180695117Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468554120F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99180734122A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99180743130N>Hcosmic curated
COSV51469900
rs745473321
131Q>HVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
COSV99039625143N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV99039625143N>Ycosmic curated
COSV51467903147F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV107222839148F>Vcosmic curated
TCGA novel149D>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV99180726
rs1378138690
153G>Ccosmic curated
gnomAD
COSV51469734158P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468193159V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51469099161G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468713161G>Scosmic curated
COSV51467760162V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108019469164F>Lcosmic curated
COSV51470081166T>Icosmic curated
COSV51468140168S>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468345169M>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel170M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV99039624171K>Qcosmic curated
COSV51468978176E>Dcosmic curated
COSV51469969177E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel180V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel180V>A
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV108019465183M>Lcosmic curated
COSV99180723184H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468926193Y>Fcosmic curated
COSV51469110198K>Mcosmic curated
COSV51468614199G>Dcosmic curated
COSV99180685200K>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468786
rs958252835
208A>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV99180740211K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51470257214K>Icosmic curated
COSV104571730215G>Vcosmic curated
COSV99180733218V>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51468537219W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51467655
rs1173584671
221R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV51468315
rs551906960
221R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV51468655
rs1754301992
227L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
COSV51469951228H>Ycosmic curated
COSV51468812231H>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV107222855232Q>*cosmic curated
COSV51468527
rs531887921
233R>Ccosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSV51468593
rs764847188
233R>Hcosmic curated
ExAC
TOPMed
gnomAD
TCGA novel236T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV105821499238A>Vcosmic curated
COSV99180705239G>Acosmic curated
TCGA novel241L>P
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
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