E9PS18 · E9PS18_HUMAN

  • Protein
    Delta(14)-sterol reductase TM7SF2
  • Gene
    TM7SF2
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    3/5

Variants

121920406080100120140160180200
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs19479110142A>PTOPMed
COSV107233533
rs746410125
2A>Vcosmic curated
ExAC
gnomAD
rs11984231203P>LgnomAD
rs14840230013P>SgnomAD
rs19479111804T>ATOPMed
rs7698262844T>IExAC
TOPMed
gnomAD
rs7698262844T>SExAC
TOPMed
gnomAD
rs15908154735Q>REnsembl
rs7755146066G>DExAC
TOPMed
COSV108085426
rs768848767
7P>Lcosmic curated
ExAC
TOPMed
gnomAD
rs7630674507P>S1000Genomes
ExAC
gnomAD
rs14725555298R>LgnomAD
rs11798656018R>WTOPMed
rs19479116199A>TEnsembl
rs77469713510P>SExAC
TOPMed
gnomAD
rs194791170811L>PEnsembl
rs194791183514G>EEnsembl
rs53257233714G>RVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs76531696516P>AExAC
TOPMed
gnomAD
rs76531696516P>SExAC
TOPMed
gnomAD
rs75224359117L>PExAC
TOPMed
gnomAD
rs75224359117L>QExAC
TOPMed
gnomAD
rs194791854818G>VTOPMed
gnomAD
rs194791864919A>GTOPMed
rs103205398819A>PgnomAD
rs103205398819A>SgnomAD
rs103205398819A>TgnomAD
rs104728299820A>VTOPMed
gnomAD
rs132462056721A>GgnomAD
rs132462056721A>VgnomAD
rs89140061623L>PTOPMed
gnomAD
rs143668005427P>LTOPMed
gnomAD
rs55292648628A>S1000Genomes
ExAC
TOPMed
gnomAD
rs55292648628A>T1000Genomes
ExAC
TOPMed
gnomAD
rs57310002228A>V1000Genomes
ExAC
TOPMed
gnomAD
rs36795536529T>ATOPMed
gnomAD
rs132042948030M>ITOPMed
gnomAD
rs76526211730M>TExAC
gnomAD
rs135398202430M>VTOPMed
rs123353175232H>PTOPMed
rs86809447834L>IEnsembl
rs76249484436A>GExAC
TOPMed
gnomAD
rs76249484436A>VExAC
TOPMed
gnomAD
rs194791958137A>DgnomAD
rs98201119338R>CTOPMed
gnomAD
rs78176688538R>HExAC
TOPMed
gnomAD
rs78176688538R>LExAC
TOPMed
gnomAD
rs78176688538R>PExAC
TOPMed
gnomAD
rs76712203839S>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs76712203839S>WVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs75077004040G>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs75077004040G>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs75077004040G>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs116407762440G>VgnomAD
rs75653408541P>SExAC
gnomAD
rs131795892142A>ETOPMed
gnomAD
rs37118699043R>C1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs128629840143R>HgnomAD
rs137748365944L>PgnomAD
rs128947211145L>MgnomAD
rs133185721645L>PgnomAD
rs126766487646G>CgnomAD
rs126766487646G>SgnomAD
rs144320453146G>VgnomAD
rs123597341447P>QgnomAD
rs121257639247P>STOPMed
gnomAD
rs121257639247P>TTOPMed
gnomAD
rs147165832848P>SgnomAD
rs141252987949A>STOPMed
gnomAD
rs141252987949A>TTOPMed
gnomAD
rs77337584450S>FExAC
gnomAD
COSV54208142
rs1414650276
51L>Mcosmic curated
gnomAD
rs135709462852P>SgnomAD
rs135286686153G>ATOPMed
gnomAD
rs130902396453G>RgnomAD
rs135286686153G>VTOPMed
gnomAD
rs130902396453G>WgnomAD
rs90133614154L>MgnomAD
rs134585869955E>KTOPMed
gnomAD
rs159081591956V>GEnsembl
rs77552423856V>MExAC
rs194792171957L>RgnomAD
rs120987899858W>*gnomAD
rs125234233159S>GTOPMed
gnomAD
rs148398238559S>RTOPMed
gnomAD
rs99840496460P>SEnsembl
rs117997235261R>GTOPMed
gnomAD
rs136318705861R>PTOPMed
gnomAD
rs136318705861R>QTOPMed
gnomAD
rs117997235261R>WTOPMed
gnomAD
rs117383652962A>VTOPMed
gnomAD
rs115720788965L>QTOPMed
rs194792345666W>*Ensembl
rs140138334166W>GEnsembl
rs130900917467L>VgnomAD
COSV54208639
rs1947923566
68A>Tcosmic curated
TOPMed
gnomAD
rs159081596869W>*Ensembl
rs194792360669W>RTOPMed
rs142105024470L>FTOPMed
gnomAD
rs142105024470L>ITOPMed
gnomAD
rs140850905472L>VTOPMed
gnomAD
rs213720042773Q>EEnsembl
rs132871124174A>VgnomAD
rs194792393175A>GVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs213720044875A>P1000Genomes
rs213720044875A>T1000Genomes
rs194792393175A>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV54205998
rs2137200473
76L>Icosmic curated
Ensembl
rs194792397077Y>*Ensembl
rs213720049377Y>NEnsembl
rs125479370278L>ITOPMed
gnomAD
rs213720051478L>PEnsembl
rs125479370278L>VTOPMed
gnomAD
rs194792403979L>PTOPMed
rs127322035980P>AgnomAD
rs134741087880P>LTOPMed
gnomAD
rs134741087880P>RTOPMed
gnomAD
rs54439261181A>G1000Genomes
ExAC
TOPMed
gnomAD
rs54439261181A>V1000Genomes
ExAC
TOPMed
gnomAD
rs194792427982R>GVariant of uncertain significance (Ensembl)TOPMed
COSV54207462
rs563774622
82R>Hcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs56377462282R>L1000Genomes
ExAC
TOPMed
gnomAD
rs194792438283K>*Ensembl
rs194795318384V>GTOPMed
rs101360608884V>ITOPMed
gnomAD
rs194795333187N>STOPMed
rs119142141188L>PTOPMed
gnomAD
rs119142141188L>QTOPMed
gnomAD
COSV105848653
rs778766450
91L>Scosmic curated
ExAC
TOPMed
gnomAD
rs74851689092M>LExAC
gnomAD
rs119292344092M>TgnomAD
rs7146869194E>KgnomAD
rs147650534195A>TgnomAD
rs123988618296E>KTOPMed
gnomAD
rs194795386997L>FTOPMed
COSV104379903
rs772488065
98R>*cosmic curated
ExAC
TOPMed
gnomAD
rs77248806598R>GExAC
TOPMed
gnomAD
rs18324952798R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs194795403799G>CTOPMed
gnomAD
rs194795403799G>RTOPMed
gnomAD
rs1287359290101P>LTOPMed
rs201108253102S>L1000Genomes
ExAC
TOPMed
gnomAD
rs1947954232104A>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs776671000105M>KExAC
TOPMed
gnomAD
rs1383094677105M>LTOPMed
gnomAD
rs776671000105M>TExAC
TOPMed
gnomAD
rs374920822106W>*ESP
ExAC
TOPMed
gnomAD
rs2137205351106W>REnsembl
rs759674435106W>SExAC
gnomAD
rs775696515108V>AExAC
TOPMed
gnomAD
COSV54207249
rs775696515
108V>Gcosmic curated
ExAC
TOPMed
gnomAD
rs761460155109N>SExAC
TOPMed
gnomAD
rs1590817181110G>SEnsembl
rs1947954783112Q>*TOPMed
gnomAD
rs1333456934113L>SgnomAD
rs867555087115Y>HgnomAD
COSV54208584
rs1947954968
116V>Mcosmic curated
TOPMed
gnomAD
rs1947955010117G>DgnomAD
rs1262050128118D>VTOPMed
gnomAD
rs1204902286119A>DTOPMed
gnomAD
rs1348179563119A>TTOPMed
gnomAD
rs1258714589120L>FgnomAD
rs1258714589120L>VgnomAD
rs772980923122H>YExAC
TOPMed
gnomAD
rs760505763123E>KTOPMed
rs760505763123E>QTOPMed
rs1947956692124E>DTOPMed
rs868412324124E>KEnsembl
rs148878643126V>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1292710984129T>AgnomAD
rs766413625129T>IExAC
gnomAD
rs776714853130M>RExAC
TOPMed
gnomAD
rs776714853130M>TExAC
TOPMed
gnomAD
rs200355387131D>YVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1285327732132I>SEnsembl
rs1947957287134H>PTOPMed
gnomAD
rs758049533134H>YExAC
rs763712793135D>EExAC
TOPMed
gnomAD
COSV54206582
rs143577587
136G>RVariant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143577587136G>WVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs902293592137F>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs902293592137F>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1947957595140M>TgnomAD
COSV54207136
rs551357064
142A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1947957824143F>STOPMed
rs895322845146M>ITOPMed
gnomAD
COSV54208615
rs768906444
148W>*cosmic curated
ExAC
TOPMed
gnomAD
rs749373964148W>GExAC
TOPMed
rs749373964148W>RExAC
TOPMed
rs1590817326149V>GEnsembl
rs774501532149V>MExAC
TOPMed
gnomAD
rs1947958186150P>RTOPMed
rs1947958266151F>LEnsembl
rs1590817328152T>PEnsembl
rs1452881698153Y>*gnomAD
rs375674215153Y>CESP
ExAC
TOPMed
gnomAD
rs1013053449154S>TTOPMed
gnomAD
rs770862173155L>VExAC
gnomAD
rs1947958533157A>SgnomAD
rs1947958573158Q>*TOPMed
rs776660302158Q>HExAC
gnomAD
rs1428922520158Q>PTOPMed
gnomAD
rs1565324478162H>QEnsembl
rs187240326164P>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1947958927165Q>*TOPMed
COSV99659590
rs762439033
166P>Hcosmic curated
ExAC
TOPMed
gnomAD
COSV99659588
rs775054516
166P>Tcosmic curated
ExAC
TOPMed
gnomAD
rs1947959177167L>PTOPMed
rs751188189168G>EExAC
gnomAD
rs763739423168G>RExAC
TOPMed
gnomAD
rs762121544171M>TExAC
gnomAD
rs1233977520171M>VTOPMed
gnomAD
rs1213249801175I>STOPMed
gnomAD
rs1213249801175I>TTOPMed
gnomAD
rs374474834176C>*ESP
ExAC
TOPMed
gnomAD
rs368684139179N>SESP
ExAC
TOPMed
gnomAD
rs768077110180A>DExAC
TOPMed
gnomAD
rs768077110180A>GExAC
TOPMed
gnomAD
rs1565324609180A>TEnsembl
rs1947963696182G>DTOPMed
rs761419824183Y>*ExAC
gnomAD
rs767202148184Y>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs767202148184Y>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1354129124185I>LgnomAD
rs1354129124185I>VgnomAD
rs948814150186F>LTOPMed
gnomAD
rs377189788187R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
TOPMed
dbSNP
gnomAD
rs377189788187R>GESP
TOPMed
gnomAD
rs369865834187R>HESP
ExAC
TOPMed
gnomAD
rs190564223188G>E1000Genomes
ExAC
gnomAD
rs573857198189A>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1014972652189A>VTOPMed
gnomAD
rs752875093190N>KExAC
gnomAD
rs758681533193K>E1000Genomes
ExAC
TOPMed
gnomAD
rs376738474195T>IESP
ExAC
TOPMed
gnomAD
rs778210498195T>SExAC
gnomAD
COSV54206318
rs769493365
197R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs201258810197R>PVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201258810197R>QVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1590817566199N>IEnsembl
rs773709021199N>KExAC
TOPMed
gnomAD
rs546134704200P>LTOPMed
gnomAD
rs1263894495200P>STOPMed
gnomAD
rs747710223203P>SExAC
TOPMed
gnomAD
rs771706431204R>IExAC
TOPMed
gnomAD
rs372729147205V>GESP
rs772852483205V>LExAC
TOPMed
gnomAD
rs760970320206A>SExAC
gnomAD
rs760970320206A>TExAC
gnomAD
rs1282929940209E>ATOPMed
COSV54207436
rs371080784
209E>Kcosmic curated
ESP
TOPMed
gnomAD
rs371080784209E>QESP
TOPMed
gnomAD
rs1565325260210T>PEnsembl
rs1565325260210T>SEnsembl
rs1468623549211I>LgnomAD
rs1227563983212S>CEnsembl
rs375652399213T>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770656879213T>IExAC
TOPMed
gnomAD
rs770656879213T>KExAC
TOPMed
gnomAD
rs375652399213T>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1487598083214A>SEnsembl
rs368243602215T>AESP
ExAC
TOPMed
gnomAD
rs760012550215T>KExAC
gnomAD
rs1332211373
COSV54207081
216G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
gnomAD
NCI-TCGA Cosmic
cosmic curated
dbSNP
rs1947967462216G>VTOPMed
COSV107233543
rs551444950
217R>Qcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs553025048217R>WExAC
gnomAD
VAR_012716
rs1129195
299T>I
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
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