P30273 · FCERG_HUMAN

  • Protein
    High affinity immunoglobulin epsilon receptor subunit gamma
  • Gene
    FCER1G
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

186102030405060708020406080MIPAVVLLLLLLVEQAAALGEPQLCYILDAILFLYGIVLTLLYCRLKIQVRKAAITSYEKSDGVYTGLSTRNQETYETLKHEKPPQ

Filter Consequence

Filter Provenance

GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV571563551M>?
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs7745767863P>AExAC
gnomAD
rs7745767863P>SExAC
gnomAD
rs7737196894A>VEnsembl
rs13686582475V>AgnomAD
COSV99248534
rs144682477
5V>Mcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV57154295
rs753158675
8L>Fcosmic curated
ExAC
TOPMed
gnomAD
rs11562945468L>PVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV571542958L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs76413108010L>FExAC
TOPMed
gnomAD
rs148190575910L>HgnomAD
rs76413108010L>IExAC
TOPMed
gnomAD
rs75411053611L>IExAC
TOPMed
gnomAD
rs77883166313V>FExAC
gnomAD
COSV106090210
rs750186006
14E>Gcosmic curated
ExAC
TOPMed
gnomAD
rs75815003215Q>KExAC
gnomAD
COSV5715631216A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99248498
rs546630081
17A>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
rs145796557417A>GTOPMed
gnomAD
rs145796557417A>VTOPMed
gnomAD
rs166608337518A>GTOPMed
TCGA novel18A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs77237372920G>*ExAC
TOPMed
gnomAD
COSV99248556
rs2102064954
20G>Ecosmic curated
Ensembl
rs77237372920G>RExAC
TOPMed
gnomAD
rs14789264421E>DESP
ExAC
TOPMed
gnomAD
COSV99248058
rs538957910
22P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
dbSNP
gnomAD
rs53895791022P>L1000Genomes
ExAC
gnomAD
rs53895791022P>R1000Genomes
ExAC
gnomAD
rs14707425622P>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel23Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs20195912624L>P1000Genomes
ExAC
gnomAD
rs136274395426Y>CTOPMed
gnomAD
rs144935992327I>TgnomAD
rs166608378627I>VEnsembl
rs76532049828L>PExAC
gnomAD
rs76532049828L>RExAC
gnomAD
rs166608384428L>VEnsembl
rs76321077630A>GExAC
TOPMed
gnomAD
rs77334544030A>TExAC
gnomAD
rs157163112831I>VEnsembl
rs20157449732L>M1000Genomes
ExAC
TOPMed
rs130183925433F>LgnomAD
rs101775451534L>VTOPMed
COSV5715443436G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs124094335636G>VEnsembl
COSV9924813037I>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV57154979
rs1257261806
38V>Icosmic curated
gnomAD
COSV5715546139L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs210206500639L>PEnsembl
rs131814967739L>VgnomAD
rs166608495140T>IgnomAD
rs157163116840T>PEnsembl
COSV57154525
rs200338884
41L>Fcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSV5715452541L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV57154228
COSV99248145
rs752641092
45R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs75264109245R>GExAC
TOPMed
gnomAD
COSV57154366
rs1191289789
45R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV99248107
rs1288089175
48I>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
TCGA novel49Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs75262863950V>AExAC
TOPMed
gnomAD
rs75606842451R>GExAC
gnomAD
rs141209469051R>LTOPMed
gnomAD
rs141209469051R>PTOPMed
gnomAD
rs141209469051R>QTOPMed
gnomAD
rs166608887952K>ETOPMed
rs138261227455I>TEnsembl
rs166608936655I>VTOPMed
rs37342672456T>ITOPMed
gnomAD
rs145062791356T>PTOPMed
gnomAD
rs157163139457S>ITOPMed
rs157163139457S>TTOPMed
rs76357990358Y>CExAC
TOPMed
gnomAD
rs75803193660K>RExAC
gnomAD
TCGA novel60K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV9924851961S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs78147437562D>EExAC
gnomAD
rs166610053962D>GEnsembl
rs75310916763G>AExAC
gnomAD
rs132668249063G>CTOPMed
gnomAD
COSV57154861
rs753109167
63G>Dcosmic curated
ExAC
gnomAD
rs132668249063G>STOPMed
gnomAD
rs155809022664V>IEnsembl
rs75638633666T>AExAC
gnomAD
rs147708804166T>MTOPMed
gnomAD
rs93087095967G>DTOPMed
gnomAD
rs75445737867G>SExAC
gnomAD
rs75783829570T>AExAC
gnomAD
rs210206554970T>IEnsembl
rs77949750872N>KExAC
TOPMed
gnomAD
rs166610686176Y>*TOPMed
COSV57154997
rs1228649709
77E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs122864970977E>QTOPMed
gnomAD
rs127212423079L>VgnomAD
rs87890970181H>QEnsembl
COSV5715530582E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV57155200
rs780351889
82E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs145293575886Q>*TOPMed
gnomAD
rs76854226586Q>HExAC
gnomAD
TCGA novel87*>Y
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
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