F5H7I0 · F5H7I0_HUMAN

  • Protein
    Potassium channel tetramerization domain containing 6
  • Gene
    KCTD6
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

17410203040506070
MTDPVTLNVGGHLYTTSLTTLTRYPDSMLGAMFGGDFPTARDPQGNYFIDRDGPLFRYVLNFLRTSELTLPLDF
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs12466734373D>GTOPMed
gnomAD
rs20632021915V>ITOPMed
rs9534374478N>SEnsembl
rs13585769019V>LgnomAD
rs37728643810G>DESP
ExAC
TOPMed
gnomAD
COSV57150415
rs762676084
10G>Scosmic curated
ExAC
TOPMed
gnomAD
rs57223376612H>QEnsembl
rs145887663913L>STOPMed
rs76134425515T>AExAC
gnomAD
COSV57148387
rs767509568
16T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs143091087719T>IgnomAD
rs75519092322T>AExAC
gnomAD
COSV100250262
rs779042947
22T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs77487069623R>CTOPMed
rs206320256323R>HTOPMed
rs210797740224Y>DEnsembl
rs75836193825P>LExAC
gnomAD
rs75836193825P>QExAC
gnomAD
rs86797840027S>FEnsembl
rs119323416532M>VTOPMed
rs156020521334G>AEnsembl
rs156020521334G>EEnsembl
rs20194918834G>RExAC
gnomAD
rs74616583036D>AExAC
gnomAD
rs37539387136D>EESP
ExAC
TOPMed
gnomAD
rs146725320536D>NTOPMed
rs146725320536D>YTOPMed
rs148400110737F>LgnomAD
rs77409441337F>LExAC
TOPMed
gnomAD
rs148400110737F>VgnomAD
rs206320287241R>GTOPMed
COSV57149473
rs761436512
41R>Qcosmic curated
ExAC
gnomAD
rs145046199944Q>EgnomAD
rs206320291545G>STOPMed
rs206320293346N>HEnsembl
rs77145159051R>*ExAC
gnomAD
rs142804363954P>LgnomAD
rs142804363954P>RgnomAD
COSV57147785
rs1468365531
57R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs157698061858Y>CEnsembl
rs75363625958Y>HExAC
gnomAD
rs104584469461N>STOPMed
rs100442789465T>STOPMed
rs146390377369T>PTOPMed
gnomAD
rs77769749373D>EExAC
gnomAD
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