P35225 · IL13_HUMAN

  • Protein
    Interleukin-13
  • Gene
    IL13
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

114620406080100120140
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7789637462H>LExAC
TOPMed
gnomAD
COSV100449410
rs778963746
2H>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV100449402
rs200168712
3P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely benign (Ensembl)NCI-TCGA Cosmic
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs17520742443P>STOPMed
rs13809491984L>FgnomAD
rs10381467916N>ITOPMed
gnomAD
rs10381467916N>STOPMed
gnomAD
rs2011219807P>HExAC
TOPMed
gnomAD
rs2011219807P>RExAC
TOPMed
gnomAD
rs7718334597P>SExAC
gnomAD
rs9557948898L>VEnsembl
rs77048863011A>SExAC
TOPMed
gnomAD
rs175207513012L>RTOPMed
rs52945670613G>A1000Genomes
ExAC
TOPMed
gnomAD
rs175207526713G>CEnsembl
rs52945670613G>D1000Genomes
ExAC
TOPMed
gnomAD
rs76798792215M>LExAC
gnomAD
COSV10044942616A>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100449426
COSV58734205
rs376870298
rs376870298,COSV100449426
16A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs119873715017L>FgnomAD
rs214987390117L>PEnsembl
rs91998002818L>FEnsembl
rs20105336519L>MgnomAD
rs214987391021T>AEnsembl
rs7818187021T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs75496453622V>AExAC
gnomAD
rs175207659025L>VTOPMed
rs175207673126T>SEnsembl
rs136668735527C>YTOPMed
gnomAD
rs175207792129G>SEnsembl
COSV105167225
rs758258492
30G>Scosmic curated
ExAC
TOPMed
gnomAD
rs77753350331F>LExAC
TOPMed
gnomAD
rs175207814433S>TEnsembl
rs214987392834P>AEnsembl
rs74675186334P>LExAC
gnomAD
rs124668033737V>MgnomAD
rs175207853538P>LgnomAD
COSV58733930
rs1561668794
38P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs86614568939P>HgnomAD
rs86614568939P>LgnomAD
rs131550955439P>SgnomAD
rs135858258640S>CVariant of uncertain significance (Ensembl)gnomAD
rs37406908841T>IESP
ExAC
TOPMed
gnomAD
COSV58734335
rs374069088
41T>Rcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs20057167842A>DExAC
gnomAD
rs20057167842A>VExAC
gnomAD
rs87994303743L>FTOPMed
gnomAD
rs87994303743L>VTOPMed
gnomAD
COSV10044939045E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs5603520845E>DTOPMed
gnomAD
rs125004451945E>GTOPMed
gnomAD
rs94783083747I>FEnsembl
rs175207954547I>TgnomAD
rs115781764148E>GTOPMed
gnomAD
rs76836405049E>GExAC
gnomAD
rs77371492150L>MExAC
gnomAD
COSV5873417851V>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs116222121353I>NgnomAD
rs90357638555Q>HgnomAD
rs91491344056N>HTOPMed
COSV58734406
rs138680496
59A>Vcosmic curated
ExAC
gnomAD
COSV58734651
rs146770163
60P>Lcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel60P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs122549628861L>FgnomAD
TCGA novel62C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs19986905664G>SESP
ExAC
TOPMed
gnomAD
rs104912934266M>VTOPMed
gnomAD
rs118645351368W>*gnomAD
rs148644701668W>LgnomAD
COSV58734160
rs143660447
68W>Rcosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV100449408
COSV58733882
rs1260343666
69S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs175210515269S>RgnomAD
rs169355642871N>KEnsembl
rs76571990171N>SExAC
TOPMed
gnomAD
rs76571990171N>TExAC
TOPMed
gnomAD
rs76298391572L>MExAC
gnomAD
COSV58734350
rs148077750
72L>Pcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs175210564673T>IEnsembl
rs20012028874A>STOPMed
gnomAD
COSV58734236
rs200120288
74A>Tcosmic curated
TOPMed
gnomAD
rs75174583275G>CExAC
gnomAD
COSV5873462175G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs75174583275G>SExAC
gnomAD
rs214987445876M>VEnsembl
COSV10044941777Y>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs3465468479A>E1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV58734075
rs1752111032
80A>Tcosmic curated
Ensembl
rs55344400480A>VVariant of uncertain significance (Ensembl)1000Genomes
ExAC
gnomAD
rs175211128482E>DTOPMed
TCGA novel84L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs155410231386N>IEnsembl
rs19951381187V>AESP
ExAC
TOPMed
gnomAD
rs19951381187V>GESP
ExAC
TOPMed
gnomAD
rs77856026287V>LExAC
TOPMed
gnomAD
COSV58733952
rs778560262
87V>Mcosmic curated
ExAC
TOPMed
gnomAD
rs175211202588S>LEnsembl
rs133101084289G>SgnomAD
rs77743182991S>TExAC
TOPMed
gnomAD
rs74624570092A>TExAC
TOPMed
gnomAD
rs86885141292A>VEnsembl
rs77010836593I>MExAC
TOPMed
gnomAD
rs138542485794E>KgnomAD
rs37466863196T>NESP
TOPMed
gnomAD
rs131493487297Q>RgnomAD
rs74979577199M>IExAC
TOPMed
gnomAD
rs200793410100L>VTOPMed
gnomAD
rs1304202143101S>NTOPMed
rs774429439102G>RExAC
TOPMed
gnomAD
rs201804555105P>L1000Genomes
ExAC
TOPMed
gnomAD
rs1182812263106H>PgnomAD
rs1752114009106H>QEnsembl
rs1461594059106H>YgnomAD
rs1160695001107K>NTOPMed
rs1752114222108V>DEnsembl
rs1752114143108V>IEnsembl
rs1035512579109S>LTOPMed
COSV100449397112Q>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1284670898112Q>LgnomAD
rs762414781115S>RExAC
gnomAD
rs184944562117H>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1470974621117H>QTOPMed
rs184944562117H>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756919832119R>*ExAC
TOPMed
gnomAD
rs140828306119R>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV106094585
rs140828306
119R>Qcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1205550748121T>SgnomAD
rs78628956123I>M1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376384925123I>VESP
ExAC
gnomAD
rs375653129124E>KESP
ExAC
TOPMed
gnomAD
COSV100449368
rs777911950
125V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs140196099125V>LESP
ExAC
TOPMed
gnomAD
rs140196099125V>MESP
ExAC
TOPMed
gnomAD
rs1752125049126A>VEnsembl
rs1752125200129V>ATOPMed
rs200380202131D>EEnsembl
rs1752125515132L>PTOPMed
gnomAD
rs1226792469133L>FTOPMed
gnomAD
rs1752125656134L>*gnomAD
rs771297548139L>PExAC
rs771297548139L>RExAC
COSV58733981
rs201475069
141R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV58734120
rs745694958
141R>Hcosmic curated
ExAC
TOPMed
gnomAD
COSV100449436
rs200247901
142E>Dcosmic curated
ExAC
TOPMed
gnomAD
rs775360450142E>KExAC
TOPMed
gnomAD
rs775360450142E>QExAC
TOPMed
gnomAD
rs1365650729143G>EgnomAD
rs1304358121143G>RTOPMed
gnomAD
COSV58734197
rs763882844
144Q>*cosmic curated
ExAC
TOPMed
gnomAD
rs20541144Q>LRisk factor (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs20541144Q>PRisk factor (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_010037
CA124197
COSV58734609
RCV000015785
RCV002509161
RCV003974831
rs20541
144Q>R
probable protective factor against ALRH; may be associated with decreased risk for asthma development; at homozygosity may be associated with lower levels of serum total IgE in some allergic rhinitis patients (UniProt)
IL13-related disorder (ClinVar)
Inherited susceptibility to asthma (ClinVar)
Allergic rhinitis, susceptibility to (ClinVar)
Benign (ClinVar, UniProt)UniProt
ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1337202282145F>SgnomAD
rs761274909146N>DExAC
gnomAD
rs56258826146N>TEnsembl
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