H7C4Z7 · H7C4Z7_HUMAN

  • Protein
    WW domain containing transcription regulator 1
  • Gene
    WWTR1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Predicted
  • Annotation score
    1/5

Variants

142510152025303540
XHSRELSWRKGPSMLGKLPSVDSSPWKLRLLPQFRLLSTHPR
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs5621551042H>L1000Genomes
ExAC
TOPMed
gnomAD
rs14309088572H>NgnomAD
rs7503464063S>AEnsembl
rs5767091763S>Y1000Genomes
ExAC
TOPMed
gnomAD
rs17360761145E>DgnomAD
rs11682439775E>KTOPMed
rs17360759998W>REnsembl
rs76387727912P>L1000Genomes
ExAC
TOPMed
gnomAD
rs156005120714M>KEnsembl
rs173607504716G>REnsembl
rs173540551417K>NEnsembl
rs173540507019P>LTOPMed
rs173540528519P>SVariant of uncertain significance (Ensembl)Ensembl
rs135718643522D>ETOPMed
rs173540406022D>GEnsembl
rs76750855422D>NExAC
gnomAD
rs145511944423S>CTOPMed
rs37333002323S>TESP
ExAC
TOPMed
gnomAD
rs77367023224S>AExAC
TOPMed
gnomAD
rs77367023224S>TExAC
TOPMed
gnomAD
rs13855028125P>LESP
ExAC
gnomAD
COSV62291656
rs1392783723
26W>*cosmic curated
gnomAD
rs100699061226W>GTOPMed
gnomAD
COSV62293288
rs1387317716
rs1387317716,COSV62293288
26W>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs100699061226W>RTOPMed
gnomAD
rs14710270529R>TVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs123417235533Q>*TOPMed
rs74744792133Q>HExAC
TOPMed
gnomAD
COSV62292660
rs776129502
34F>Lcosmic curated
ExAC
TOPMed
gnomAD
rs77974498334F>VEnsembl
rs14946419235R>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs137980730440H>YgnomAD
rs173540019841P>ATOPMed
COSV62293773
rs1735400198
41P>Tcosmic curated
TOPMed
COSV104674025
rs746387674
42R>*cosmic curated
ExAC
TOPMed
gnomAD
rs75737656042R>LExAC
TOPMed
gnomAD
rs75737656042R>QExAC
TOPMed
gnomAD
rs2876391443*>C1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145391426943*>RTOPMed
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