R4GN58 · R4GN58_HUMAN

  • Protein
    THO complex subunit 1
  • Gene
    THOC1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

195102030405060708090
XEGEMGDEEAPTTCSIPIDYNLYRKFWSLQDYFRNPVQCYEKISWKTFLKYSEEVLAVFKSYKLDDTQASRKKMEELKTGGEHVYFAKFLTSEKV
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7733641212E>DExAC
TOPMed
gnomAD
rs7607170852E>GExAC
TOPMed
gnomAD
TCGA novel
rs1165816026
4E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
gnomAD
rs11658160264E>QTOPMed
gnomAD
rs19123130786G>ETOPMed
rs13673043448E>GgnomAD
rs146040791310A>PTOPMed
rs129648281110A>VTOPMed
gnomAD
rs76862734211P>SExAC
gnomAD
rs127374528912T>AgnomAD
COSV99863634
rs1250711792
13T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs145603331714C>FgnomAD
rs136435212916I>VTOPMed
gnomAD
rs191214854318I>TgnomAD
rs126586004318I>VTOPMed
gnomAD
COSV55275117
rs1268575439
24R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV55274689
rs775390511
24R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs191214789325K>ETOPMed
rs191214776730Q>RTOPMed
rs191214764131D>GTOPMed
rs191214692540Y>CTOPMed
rs78098053340Y>HExAC
gnomAD
COSV108018044
rs1912146804
42K>Ncosmic curated
Ensembl
rs191214670545W>*Ensembl
rs117387886246K>NTOPMed
gnomAD
rs37300631547T>IESP
ExAC
TOPMed
gnomAD
rs37300631547T>SESP
ExAC
TOPMed
gnomAD
rs77744975550K>RExAC
gnomAD
rs54890222853E>Q1000Genomes
ExAC
gnomAD
rs77149999657A>DExAC
gnomAD
rs128631922558V>IgnomAD
rs53076878261S>G1000Genomes
ExAC
TOPMed
gnomAD
rs75656587161S>NExAC
gnomAD
rs148744896663K>RTOPMed
gnomAD
rs129360533365D>VTOPMed
gnomAD
rs146565628566D>EgnomAD
rs75073414669A>GExAC
gnomAD
rs191208864869A>STOPMed
rs141452672271R>KgnomAD
rs141452672271R>TgnomAD
rs147169583573K>NgnomAD
rs14065841274M>I1000Genomes
ExAC
gnomAD
rs75787473374M>VExAC
gnomAD
rs145910570375E>GTOPMed
gnomAD
rs37762037676E>KESP
ExAC
gnomAD
rs75853967278K>EExAC
gnomAD
rs133609233978K>TgnomAD
rs214324989880G>EEnsembl
rs75303155880G>RExAC
gnomAD
rs98631724482E>GTOPMed
rs191208634485Y>CEnsembl
rs191208623292S>REnsembl
rs159830095795V>IEnsembl
rs191208582396*>CgnomAD
rs75942225196*>QExAC
gnomAD
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