P01562 · IFNA1_HUMAN

  • Protein
    Interferon alpha-1/13
  • Gene
    IFNA1; IFNA13
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

118920406080100120140160180
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7777113632A>DExAC
TOPMed
gnomAD
rs7777113632A>VExAC
TOPMed
gnomAD
rs3681751413S>LESP
ExAC
gnomAD
rs3713655364P>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs18183589014P>STOPMed
rs7693485425F>VExAC
TOPMed
gnomAD
rs7751648208L>RExAC
TOPMed
gnomAD
rs1399571449M>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs12996365449M>LgnomAD
VAR_024508
RCV000950424
rs1758567
10V>A
Benign (Ensembl, ClinVar)UniProt
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs181835927712V>LTOPMed
gnomAD
rs181835930813V>MEnsembl
rs138403995315S>NTOPMed
gnomAD
rs129119417316C>*gnomAD
rs76662304616C>GExAC
TOPMed
gnomAD
rs181835959318S>LEnsembl
rs75397872018S>PExAC
gnomAD
rs119210636319S>IgnomAD
rs119210636319S>NgnomAD
rs144524138120C>WTOPMed
rs75959379822L>VExAC
TOPMed
gnomAD
rs14883677523G>DESP
ExAC
TOPMed
gnomAD
rs37593224225D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs181835978325D>NEnsembl
COSV9943981526L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs52977149927P>L1000Genomes
ExAC
TOPMed
gnomAD
rs75717715630H>RExAC
gnomAD
rs181836000731S>IEnsembl
COSV5280643531S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV5280681232L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs139364044633D>ETOPMed
gnomAD
rs116291037834N>SgnomAD
rs74537972036R>KExAC
TOPMed
gnomAD
rs181836030437T>AEnsembl
rs181836039739M>ITOPMed
rs181836036139M>VTOPMed
gnomAD
rs75561424240L>FExAC
gnomAD
rs75561424240L>VExAC
gnomAD
rs14403751141L>QESP
ExAC
TOPMed
gnomAD
rs181836056443Q>KEnsembl
rs181836067744M>ITOPMed
rs121230922344M>TgnomAD
rs74895087244M>VExAC
gnomAD
rs127061303145S>NTOPMed
gnomAD
TCGA novel46R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs117886871451S>FTOPMed
gnomAD
rs126372260052C>STOPMed
rs126372260052C>YTOPMed
COSV9944004354M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs181836084754M>TTOPMed
rs181836087355D>GEnsembl
rs77370892257H>RExAC
TOPMed
gnomAD
rs37686426657H>YESP
ExAC
TOPMed
gnomAD
rs158697594758D>EEnsembl
rs181836099958D>HTOPMed
gnomAD
rs181836099958D>NTOPMed
gnomAD
TCGA novel58D>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV9943984558D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV9943990760G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs77157936862P>HExAC
gnomAD
rs158697595263Q>*Ensembl
rs90033374463Q>RTOPMed
rs181836129364E>GEnsembl
rs139362244164E>KgnomAD
rs75956572465E>VExAC
gnomAD
rs76532863766F>SExAC
TOPMed
gnomAD
rs36907604267D>YESP
TOPMed
COSV9943993569N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs76394053370Q>EExAC
gnomAD
rs115645828570Q>HTOPMed
rs75135700570Q>LExAC
TOPMed
gnomAD
rs75135700570Q>PExAC
TOPMed
gnomAD
rs135297809971F>LTOPMed
gnomAD
rs75698499273K>RExAC
TOPMed
gnomAD
rs181836179574A>PTOPMed
rs181836179574A>TTOPMed
rs75034697675P>AExAC
TOPMed
gnomAD
rs20210574575P>LEnsembl
rs20210574575P>QEnsembl
rs75034697675P>SExAC
TOPMed
gnomAD
rs143052781676A>GgnomAD
rs94653459076A>TTOPMed
gnomAD
rs143052781676A>VgnomAD
COSV9943989577I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs181836201377I>VTOPMed
rs125938204278S>PgnomAD
TCGA novel79V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs74896220280L>FExAC
TOPMed
gnomAD
rs127140132081H>RTOPMed
rs181836236283L>MTOPMed
rs90240364285Q>*TOPMed
gnomAD
rs90240364285Q>ETOPMed
gnomAD
rs181836246386Q>HTOPMed
rs74740089387I>NExAC
gnomAD
rs74740089387I>TExAC
gnomAD
rs181836257690L>FTOPMed
rs124183532591F>ITOPMed
rs77704400392T>IExAC
gnomAD
COSV9943989892T>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs74636297393T>AExAC
gnomAD
rs37465418294K>EExAC
TOPMed
gnomAD
rs37465418294K>QExAC
TOPMed
gnomAD
rs181836277896S>LTOPMed
rs77563347296S>PExAC
gnomAD
rs141111392297S>PgnomAD
rs129601923198A>PTOPMed
gnomAD
rs181836290999A>VEnsembl
rs1308181740100W>*gnomAD
rs762951011101D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs1272004314103D>GgnomAD
TCGA novel104L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1391375420104L>PgnomAD
rs1011990723109C>FTOPMed
rs1818363271109C>RTOPMed
rs1011990723109C>STOPMed
rs764310682110T>AExAC
TOPMed
gnomAD
rs1234433955110T>STOPMed
gnomAD
rs1586976054111E>DEnsembl
COSV52807059
rs761640819
111E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs767325677112L>FExAC
gnomAD
rs767325677112L>IExAC
gnomAD
TCGA novel112L>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1818363717114Q>KEnsembl
rs1252688489114Q>PTOPMed
gnomAD
rs750388283115Q>HExAC
gnomAD
rs1177062479115Q>RTOPMed
gnomAD
rs1818363943117N>IgnomAD
TCGA novel120E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs756076687122C>RExAC
gnomAD
rs753403576124M>IExAC
gnomAD
rs766163997124M>TExAC
gnomAD
rs1586976065125Q>LTOPMed
rs1586976065125Q>RTOPMed
rs1818364288126E>VgnomAD
rs778739952127E>DExAC
gnomAD
rs754489922127E>VExAC
gnomAD
rs757744146128R>GExAC
gnomAD
rs781606132128R>KExAC
gnomAD
rs757744146128R>WExAC
gnomAD
COSV99439773
rs746427295
rs746427295,COSV99439773
130G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs780363576132T>IExAC
TOPMed
gnomAD
rs774608644133P>LExAC
gnomAD
rs749389002133P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs749389002133P>TExAC
gnomAD
rs1230823053135M>TgnomAD
rs762012838136N>SExAC
gnomAD
rs2230050137A>EBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1306921166137A>TgnomAD
VAR_013000
RCV000972793
rs2230050
137A>V
alpha-1B (UniProt)
Benign (Ensembl, ClinVar, UniProt)UniProt
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1818365355138D>ATOPMed
gnomAD
TCGA novel139S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1818365403139S>YEnsembl
rs1818365603144K>EEnsembl
COSV52806706144K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs764816473144K>RLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs1818365741146Y>CEnsembl
COSV52806429
rs777221783
148R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
COSV52806429
rs777221783
148R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
gnomAD
rs370370604148R>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370370604148R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1818365983151T>PTOPMed
COSV99439841151T>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1352088328152L>VTOPMed
gnomAD
rs566423831153Y>*1000Genomes
TOPMed
gnomAD
rs371192309153Y>CESP
ExAC
TOPMed
gnomAD
rs373879408155T>IESP
TOPMed
gnomAD
rs2117915068156E>QEnsembl
rs1818366398157K>ETOPMed
rs1026216875157K>TTOPMed
rs528473053158K>N1000Genomes
ExAC
TOPMed
gnomAD
rs778963264160S>RExAC
gnomAD
rs1563886478161P>REnsembl
COSV52806770
rs772355393
162C>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
VAR_025173
RCV000947160
rs28383794
163A>G
Benign (Ensembl, ClinVar)UniProt
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs773260483163A>SExAC
TOPMed
gnomAD
rs1209182631164W>CgnomAD
rs770601450164W>L1000Genomes
ExAC
gnomAD
rs776758002165E>GExAC
TOPMed
gnomAD
rs1563886504165E>KEnsembl
rs759532161166V>AExAC
TOPMed
gnomAD
rs1818367208166V>FEnsembl
rs759532161166V>GExAC
TOPMed
gnomAD
rs1463006497169A>ETOPMed
rs1463006497169A>VTOPMed
rs752258001171I>VExAC
TOPMed
gnomAD
rs1413821023172M>TgnomAD
COSV52806665173R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1255618048174S>YTOPMed
rs762310193175L>FExAC
TOPMed
gnomAD
rs1197383938176S>CTOPMed
gnomAD
rs751128915178S>LExAC
gnomAD
rs763826566178S>PExAC
gnomAD
COSV52806868178S>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV99439997179T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1818367730179T>IgnomAD
rs1336855108180N>IgnomAD
rs1336855108180N>SgnomAD
rs756555323180N>YExAC
gnomAD
rs1319471597183E>GTOPMed
gnomAD
COSV52806838184R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV52806838184R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV99439975187R>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV99439981
rs1339698516
187R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs1242130877187R>WTOPMed
gnomAD
COSV52806379189E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1315425588190*>STOPMed
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp