H3BV25 · H3BV25_HUMAN

  • Protein
    Integrator complex subunit 14
  • Gene
    INTS14
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

17610203040506070
MPTVVVMDVSLSMTRPVSIEGSEEYQPLSNMDDYDKTCLESALVGVCNIVQQEWGGAIPCQVVLVTDGCLGIGRGS
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs2005004942P>L1000Genomes
TOPMed
gnomAD
rs12090085994V>AgnomAD
rs13100117495V>AgnomAD
COSV57525718
rs778900825
6V>Icosmic curated
ExAC
TOPMed
gnomAD
rs7573502507M>IExAC
gnomAD
rs13465181068D>VgnomAD
COSV108097462
rs2073693361
10S>Pcosmic curated
TOPMed
rs77096503912S>YEnsembl
rs127816628014T>ATOPMed
gnomAD
rs14024973215R>*ESP
gnomAD
rs75393897315R>LExAC
TOPMed
gnomAD
rs75393897315R>QExAC
TOPMed
gnomAD
rs76446062916P>SExAC
TOPMed
gnomAD
rs76446062916P>TExAC
TOPMed
gnomAD
rs146575776317V>AgnomAD
rs207369219617V>LTOPMed
rs207369219617V>MTOPMed
rs75293027219I>TExAC
TOPMed
gnomAD
rs18966355519I>V1000Genomes
ExAC
TOPMed
gnomAD
rs77477737521G>AExAC
TOPMed
gnomAD
rs77477737521G>EExAC
TOPMed
gnomAD
rs144089474921G>RTOPMed
gnomAD
COSV57528090
rs894075500
22S>Ccosmic curated
TOPMed
gnomAD
COSV57527733
rs761348752
23E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs124464862626Q>*gnomAD
rs124429398726Q>HTOPMed
rs14666133127P>RVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs76810412427P>SExAC
gnomAD
COSV106097294
rs199902660
28L>Vcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs207360279331M>TTOPMed
gnomAD
rs52970126131M>V1000Genomes
ExAC
gnomAD
rs159626757832D>VEnsembl
rs136939221534Y>*gnomAD
rs56090969435D>G1000Genomes
ExAC
TOPMed
gnomAD
rs207360232635D>NTOPMed
rs56090969435D>V1000Genomes
ExAC
TOPMed
gnomAD
rs76573080836K>RExAC
TOPMed
gnomAD
rs138212895337T>ITOPMed
gnomAD
rs207360140738C>*TOPMed
rs207360113342A>PEnsembl
rs115999934842A>VTOPMed
gnomAD
COSV57526579
rs2073600813
45G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs76021853747C>WExAC
gnomAD
rs54251973548N>SVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs76689295249I>TExAC
TOPMed
gnomAD
rs77381152050V>IExAC
TOPMed
gnomAD
rs77086013052Q>HExAC
TOPMed
gnomAD
rs207359915753E>VTOPMed
rs207359867254W>*TOPMed
rs120713685856G>DgnomAD
rs126229994458I>VgnomAD
rs76287725662V>FExAC
gnomAD
rs207336512962V>GTOPMed
gnomAD
rs127145557063V>FgnomAD
rs214130218365V>LEnsembl
rs76966402766T>IExAC
TOPMed
gnomAD
rs14129036067D>E1000Genomes
ExAC
TOPMed
gnomAD
rs36830042767D>YESP
ExAC
TOPMed
gnomAD
rs74705707168G>CExAC
TOPMed
gnomAD
COSV100500089
rs747057071
68G>Scosmic curated
ExAC
TOPMed
gnomAD
rs78029690669C>YExAC
TOPMed
gnomAD
rs207336351270L>IgnomAD
rs117011309072I>VgnomAD
rs137213390674R>KTOPMed
rs207336279675G>ETOPMed
rs138466849775G>RgnomAD
rs159625911976S>AEnsembl
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