Q92979 · NEP1_HUMAN

  • Protein
    Ribosomal RNA small subunit methyltransferase NEP1
  • Gene
    EMG1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

124420406080100120140160180200220240100200

Filter Consequence

Filter Provenance

GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs19463149692A>TEnsembl
rs15551520592A>VgnomAD
COSV997812664P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs3760555355S>GESP
ExAC
TOPMed
gnomAD
rs1495782115S>RBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs15551520656D>ETOPMed
gnomAD
rs7827115766D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ExAC
dbSNP
gnomAD
rs7821184517G>*ExAC
TOPMed
gnomAD
rs7827783987G>AExAC
TOPMed
gnomAD
rs7827783987G>EExAC
TOPMed
gnomAD
rs7821184517G>RExAC
TOPMed
gnomAD
rs7827783987G>VExAC
TOPMed
gnomAD
rs7825500758F>LExAC
TOPMed
gnomAD
rs12314538718F>VTOPMed
rs7827223329K>NExAC
TOPMed
gnomAD
rs132027859410P>STOPMed
gnomAD
rs78247915011R>CExAC
gnomAD
rs37236192011R>PESP
TOPMed
gnomAD
rs78247915011R>SExAC
gnomAD
rs155515208612E>KgnomAD
rs78262893913R>*ExAC
TOPMed
gnomAD
CA6422610
RCV000514815
rs36061201
13R>LBenign (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs78254634014S>NExAC
gnomAD
rs78224927914S>RLikely benign (Ensembl)TOPMed
rs78254634014S>TExAC
gnomAD
rs78217538015G>CExAC
gnomAD
rs78260475216G>EExAC
TOPMed
gnomAD
rs78232436416G>WExAC
gnomAD
rs133849283917E>VTOPMed
rs78223371218Q>EExAC
TOPMed
gnomAD
rs140272225818Q>RTOPMed
gnomAD
rs36961709219A>SESP
ExAC
TOPMed
gnomAD
rs36961709219A>TESP
ExAC
TOPMed
gnomAD
rs155515211819A>VgnomAD
rs194631661620Q>KEnsembl
rs78215063720Q>RExAC
gnomAD
rs90678438021D>EgnomAD
rs78243822021D>NExAC
gnomAD
rs194631679122W>*TOPMed
rs155515212322W>CgnomAD
rs155515212423D>NgnomAD
rs155515212624A>DgnomAD
rs155515213025L>PgnomAD
rs78192511025L>VExAC
gnomAD
rs78207504827P>HExAC
TOPMed
gnomAD
rs78207504827P>LExAC
TOPMed
gnomAD
rs78274304028K>QExAC
TOPMed
gnomAD
rs100375686828K>RTOPMed
gnomAD
rs100375686828K>TTOPMed
gnomAD
rs194631731329R>QEnsembl
rs78185178930P>LExAC
gnomAD
rs78212692431R>*ExAC
TOPMed
gnomAD
rs78212692431R>GExAC
TOPMed
gnomAD
rs194631761432L>QTOPMed
gnomAD
rs194631757032L>VTOPMed
gnomAD
rs137083519933G>ETOPMed
gnomAD
VAR_050237
CA249018
RCV000202817
RCV004708102
rs11064480
34A>GBenign (Ensembl, ClinVar)UniProt
ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs78249545334A>S1000Genomes
ExAC
TOPMed
gnomAD
rs78249545334A>T1000Genomes
ExAC
TOPMed
gnomAD
rs316859435G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs95243835437K>EEnsembl
rs78182416138I>SExAC
TOPMed
gnomAD
rs78263398739G>EExAC
TOPMed
gnomAD
rs155515215340G>DgnomAD
rs78226694141R>CExAC
TOPMed
gnomAD
rs78241400041R>HExAC
gnomAD
rs78226694141R>SExAC
TOPMed
gnomAD
rs20004155142R>GEnsembl
TCGA novel42R>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1785744842R>S1000Genomes
ExAC
TOPMed
gnomAD
RCV000947413
RCV001664562
rs60117710
43L>missing
Bowen-Conradi syndrome (ClinVar)
Benign (ClinVar)ClinVar
dbSNP
rs194631849843L>FEnsembl
rs194631849843L>IEnsembl
TCGA novel43L>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs194631849843L>VEnsembl
rs194631864244I>VEnsembl
rs194631869345V>ATOPMed
rs194631878646V>LTOPMed
rs194631878646V>MTOPMed
rs121821728148E>KTOPMed
rs78196673950A>TExAC
gnomAD
COSV5464118350A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs78210347851S>IExAC
TOPMed
gnomAD
rs37504271552L>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs155515217254T>IgnomAD
rs155515217755V>IgnomAD
rs159170528456K>QEnsembl
rs213832072957V>AEnsembl
rs155515267859K>RgnomAD
rs37347387061Y>*ESP
ExAC
TOPMed
gnomAD
rs78233975561Y>CExAC
gnomAD
rs78279384463L>VExAC
gnomAD
rs78217490465N>SExAC
gnomAD
rs146448720966C>YTOPMed
rs78270739767D>EExAC
gnomAD
rs194636733367D>NTOPMed
gnomAD
rs78248386769H>RExAC
gnomAD
rs78252191672I>MExAC
TOPMed
gnomAD
rs37727251972I>TESP
ExAC
TOPMed
gnomAD
rs78274971572I>VExAC
TOPMed
gnomAD
rs194636778973L>*TOPMed
rs78217294973L>FExAC
TOPMed
gnomAD
COSV9978127174L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs155515270876N>DgnomAD
rs155515270976N>SgnomAD
rs78260171277G>EExAC
gnomAD
rs78217964378R>G1000Genomes
ExAC
TOPMed
gnomAD
rs78269359878R>QExAC
TOPMed
gnomAD
rs78217964378R>W1000Genomes
ExAC
TOPMed
gnomAD
rs138728215179D>GTOPMed
gnomAD
rs155515271879D>YgnomAD
rs78227627681G>VExAC
TOPMed
gnomAD
rs78242254983A>GExAC
TOPMed
gnomAD
rs155515272683A>TgnomAD
COSV54641935
rs782422549
83A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs78273596784R>QExAC
gnomAD
rs213832097385P>TEnsembl
VAR_062480
CA114613
RCV000000938
rs74435397
86D>G
BWCNS; studies in fibroblasts show a dramatically reduced level of EMG1 protein in a BWCNS-affected patient compared to normal fibroblasts although patient fibroblasts do not have complete EMG1 deficiency; the mutation increases dimerization of EMG1 subunits suggesting that aggregation of EMG1 leads to reduced levels of the protein (UniProt)
Bowen-conradi syndrome (bwcns) (Ensembl)
Bowen-Conradi syndrome (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs78280359987I>TExAC
gnomAD
rs78189600488T>AExAC
gnomAD
rs139231827489H>YTOPMed
gnomAD
rs78270360490Q>EExAC
gnomAD
rs155515277691S>GgnomAD
rs78191005494M>IExAC
gnomAD
rs78216908494M>R1000Genomes
ExAC
TOPMed
gnomAD
rs78258092095L>PExAC
gnomAD
rs78245604895L>VExAC
gnomAD
rs173685373196M>LTOPMed
rs78183182698S>NExAC
gnomAD
rs78248668899P>LExAC
gnomAD
rs782438469100L>M1000Genomes
ExAC
TOPMed
gnomAD
COSV54641743101N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV54641500
rs782418214
102R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs782563434102R>QExAC
gnomAD
rs782190613103A>GExAC
gnomAD
rs782190613103A>VExAC
gnomAD
rs1256862599104G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs1256862599104G>VTOPMed
gnomAD
rs781966629106L>VExAC
gnomAD
rs1555152797107Q>*gnomAD
rs782648414108V>AExAC
rs1946371423109Y>CTOPMed
gnomAD
rs1276535579110I>MTOPMed
gnomAD
rs1484616063110I>STOPMed
gnomAD
rs993652525111H>RTOPMed
gnomAD
rs199566199113Q>EESP
ExAC
TOPMed
gnomAD
rs1946371632113Q>LTOPMed
rs782018212114K>*ExAC
TOPMed
rs1555152809114K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs782018212114K>QExAC
TOPMed
rs1946371822115N>HTOPMed
gnomAD
rs1555152813115N>SgnomAD
TCGA novel116V>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs782169969118I>TExAC
TOPMed
gnomAD
rs1246417980118I>VTOPMed
gnomAD
rs1555152817120V>LTOPMed
gnomAD
rs1555152817120V>MTOPMed
gnomAD
rs781939868122P>AExAC
TOPMed
gnomAD
rs781812160122P>R1000Genomes
ExAC
gnomAD
rs1555152820124T>IgnomAD
rs1555152820124T>NgnomAD
rs782538249125R>*ExAC
TOPMed
gnomAD
COSV54642042
rs1555152823
125R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs1309066030127P>LTOPMed
gnomAD
rs782808257129T>IExAC
TOPMed
gnomAD
rs1946372469131D>GEnsembl
rs1946372504132R>CTOPMed
COSV99781199132R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs782453517133F>LExAC
gnomAD
rs782226901136L>HExAC
rs1946372686137M>VTOPMed
rs1946377986139Q>*TOPMed
rs781867583141L>VExAC
TOPMed
gnomAD
TCGA novel
rs1946378164
145S>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
rs782548320145S>NExAC
gnomAD
rs782675633146V>AExAC
gnomAD
rs782181464147R>*ExAC
TOPMed
gnomAD
rs782181464147R>GExAC
TOPMed
gnomAD
COSV54643253
rs1555152914
147R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs1171472029149A>PTOPMed
gnomAD
rs1946378570150D>GTOPMed
rs782235442150D>NExAC
TOPMed
gnomAD
COSV54641449151G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV54641573151G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs782008843152P>LExAC
gnomAD
rs782441349152P>TTOPMed
gnomAD
rs1946378828154K>NTOPMed
rs782301311154K>QExAC
TOPMed
gnomAD
COSV99781002155L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1555152940158V>LgnomAD
rs782493737159I>TExAC
gnomAD
COSV54641095160K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1284796548161N>STOPMed
gnomAD
rs781882780162P>LExAC
TOPMed
gnomAD
rs782643000162P>SExAC
TOPMed
gnomAD
rs782643000162P>TExAC
TOPMed
gnomAD
rs372110507163V>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782554231164S>*ExAC
gnomAD
rs782554231164S>LExAC
gnomAD
rs183026884167F>L1000Genomes
ExAC
TOPMed
gnomAD
COSV54641717
rs1555152950
168P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
gnomAD
rs1555152950168P>QTOPMed
gnomAD
COSV54642570169V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1555152952169V>LTOPMed
gnomAD
rs782334197171C>YExAC
TOPMed
gnomAD
rs782245976172M>IExAC
TOPMed
gnomAD
rs1169305243172M>TEnsembl
rs1555152957173K>EgnomAD
rs782391946174V>AExAC
TOPMed
gnomAD
COSV99780921177S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1555152961178F>STOPMed
gnomAD
rs1555152961178F>YTOPMed
gnomAD
rs782019701179S>YExAC
gnomAD
rs1946380787181P>ATOPMed
rs782168206181P>LExAC
TOPMed
gnomAD
rs782168206181P>RExAC
TOPMed
gnomAD
rs782307546182V>GExAC
TOPMed
gnomAD
rs1184862119182V>ITOPMed
gnomAD
rs1202716378183V>DEnsembl
COSV99781147183V>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs781937222184S>NExAC
TOPMed
gnomAD
rs1232720535186V>ATOPMed
gnomAD
rs1232720535186V>GTOPMed
gnomAD
rs201757338186V>MESP
ExAC
TOPMed
gnomAD
rs782741904187R>CExAC
TOPMed
gnomAD
rs782021249187R>H1000Genomes
ExAC
TOPMed
gnomAD
rs782021249187R>L1000Genomes
ExAC
TOPMed
gnomAD
rs782416705190V>L1000Genomes
ExAC
TOPMed
gnomAD
rs1555152978193S>NgnomAD
rs1555152980195P>TTOPMed
gnomAD
rs375741608196I>MEnsembl
rs782605254196I>VExAC
TOPMed
gnomAD
rs781834410197V>AExAC
TOPMed
gnomAD
rs1326057506197V>FTOPMed
gnomAD
rs1326057506197V>ITOPMed
gnomAD
rs1946381810198F>STOPMed
gnomAD
rs1555152988199V>AgnomAD
TCGA novel199V>C
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
TCGA novel200V>W
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1732057048201G>ETOPMed
TCGA novel201G>R
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs971421303202A>DTOPMed
rs782511052202A>TExAC
TOPMed
gnomAD
rs868957078204A>VEnsembl
rs1591708751205H>PEnsembl
rs1555152994206G>DgnomAD
rs1407750518207K>RTOPMed
rs1555153061208V>IgnomAD
rs1946388229209S>GTOPMed
rs1946388288209S>NgnomAD
rs782044745211E>AExAC
gnomAD
rs782710641213T>IExAC
TOPMed
gnomAD
rs200470095214E>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781943557214E>KExAC
gnomAD
rs200470095214E>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782751710216M>TExAC
gnomAD
COSV99781058216M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs782527998217V>AExAC
TOPMed
gnomAD
rs781869060217V>MExAC
gnomAD
rs1371430452218S>FTOPMed
gnomAD
rs1555153073218S>TgnomAD
rs1371430452218S>YTOPMed
gnomAD
rs782819014219I>NExAC
gnomAD
rs782819014219I>TExAC
gnomAD
rs781792612220S>NExAC
TOPMed
gnomAD
COSV54640969221N>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1034343918222Y>*gnomAD
rs1258116000222Y>CTOPMed
rs1476171611222Y>HTOPMed
gnomAD
rs74396478223P>S1000Genomes
ExAC
gnomAD
rs3180956225S>FEnsembl
rs1555153080226A>GgnomAD
rs782235929226A>TExAC
TOPMed
gnomAD
rs782517421229T>PExAC
gnomAD
rs782647932229T>SExAC
rs369750549230C>RESP
ExAC
TOPMed
gnomAD
rs1252320547233L>FTOPMed
gnomAD
rs1252320547233L>VTOPMed
gnomAD
rs1555153085234T>NgnomAD
rs187673472235T>I1000Genomes
ExAC
TOPMed
gnomAD
rs374223610236A>PESP
ExAC
TOPMed
gnomAD
rs1946390857237F>SEnsembl
rs1336172483238E>KTOPMed
COSV54643692239E>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1231926897240V>ITOPMed
gnomAD
rs1555153095241W>*gnomAD
rs1946391162241W>SEnsembl
rs1946391470242G>ATOPMed
gnomAD
rs1946391470242G>ETOPMed
gnomAD
TCGA novel242G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs782051183243V>LExAC
gnomAD
rs377663713244I>VESP
ExAC
TOPMed
gnomAD
rs1946391716245*>DTOPMed
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