Q9BU27 · Q9BU27_HUMAN

  • Protein
    FAM3 metabolism regulating signaling molecule A
  • Gene
    FAM3A
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

170510152025303540455055606570
MRLAGPLRIVVLVVSVGVTWIVVSILLGGPGSGFPRIQQLFTSWSAVVQSRFTATSTSWVQAILVPQPPE
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7820178058R>CExAC
TOPMed
gnomAD
COSV59195141
rs782386917
8R>Hcosmic curated
ExAC
TOPMed
gnomAD
rs12919010039I>TTOPMed
gnomAD
rs20699746889I>VTOPMed
gnomAD
rs78223633211V>IExAC
gnomAD
COSV59195164
rs181188384
14V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs206997337616V>GTOPMed
gnomAD
COSV107373054
rs2069973172
17G>Scosmic curated
TOPMed
rs120716814620W>RTOPMed
VAR_057531
rs35985994
21I>MUniProt
ExAC
TOPMed
dbSNP
gnomAD
rs14104027921I>SESP
ExAC
TOPMed
gnomAD
rs14814995922V>AESP
TOPMed
gnomAD
COSV59194560
rs782638937
22V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs155722369324S>NgnomAD
rs78248724924S>RExAC
gnomAD
rs160340701325I>FEnsembl
rs160340701325I>VEnsembl
rs125951523426L>HTOPMed
gnomAD
rs125951523426L>RTOPMed
gnomAD
rs155722366028G>RgnomAD
rs206996953029G>REnsembl
rs78204613431G>DExAC
TOPMed
gnomAD
rs78272634431G>SExAC
gnomAD
rs78279147032S>GExAC
gnomAD
rs206996804535P>LTOPMed
gnomAD
rs140919779436R>CTOPMed
gnomAD
rs20073094436R>HESP
ExAC
TOPMed
gnomAD
rs206994586645S>NTOPMed
rs206994537946A>TEnsembl
rs155722337449Q>*gnomAD
rs78270259951R>PExAC
TOPMed
gnomAD
rs78270259951R>QExAC
TOPMed
gnomAD
rs139005021051R>WTOPMed
rs105667583552F>LEnsembl
rs206994327456S>PTOPMed
rs160340653657T>IEnsembl
rs137202130762A>ETOPMed
gnomAD
rs137202130762A>VTOPMed
gnomAD
rs155722333263I>VgnomAD
rs206994181468P>LEnsembl
rs143406994269P>AEnsembl
rs78196787670E>*1000Genomes
ExAC
TOPMed
gnomAD
rs78196787670E>K1000Genomes
ExAC
TOPMed
gnomAD
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