Q8N983 · RM43_HUMAN

  • Protein
    Large ribosomal subunit protein mL43
  • Gene
    MRPL43
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

121520406080100120140160180200100200

Filter Consequence

Filter Provenance

GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs9670911892T>MTOPMed
rs7567329333A>GExAC
gnomAD
rs7567329333A>VExAC
gnomAD
rs7509910314R>CExAC
gnomAD
rs13830376734R>HgnomAD
rs13894917755G>RgnomAD
COSV992726605G>Wcosmic curated
rs15900149136T>PEnsembl
rs13492962107P>LTOPMed
gnomAD
rs7644385178S>RExAC
gnomAD
rs18515805959R>CTOPMed
gnomAD
rs18515805959R>GTOPMed
gnomAD
COSV52967971
rs1294828350
10F>Lcosmic curated
TOPMed
COSV10507146510F>Ycosmic curated
rs76293999812A>SExAC
TOPMed
gnomAD
rs95823865812A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs185157913913S>TTOPMed
rs137988648215L>FTOPMed
gnomAD
rs137988648215L>VTOPMed
gnomAD
rs131812893117N>STOPMed
gnomAD
COSV5297181518G>Ecosmic curated
rs74576122818G>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs185157693019L>REnsembl
rs122967488519L>VTOPMed
gnomAD
rs77655034120G>RExAC
TOPMed
gnomAD
rs77655034120G>SExAC
TOPMed
gnomAD
rs74687618822Y>CExAC
TOPMed
gnomAD
rs74687618822Y>FExAC
TOPMed
gnomAD
rs213393002825Q>LEnsembl
rs14321865226L>RESP
ExAC
TOPMed
gnomAD
rs77728518026L>VExAC
TOPMed
gnomAD
rs103395730127Q>*TOPMed
rs133731586827Q>PgnomAD
rs185157466628R>PEnsembl
TCGA novel31F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs77851906532S>NExAC
gnomAD
rs213392986133V>AEnsembl
rs142541903834S>NgnomAD
rs75755242935R>CExAC
TOPMed
gnomAD
rs75203028835R>HExAC
gnomAD
rs75755242935R>SExAC
TOPMed
gnomAD
rs213392975936D>YEnsembl
rs136479301737G>VgnomAD
rs119911851638A>STOPMed
gnomAD
rs119911851638A>TTOPMed
gnomAD
rs147976443038A>VgnomAD
rs13951901339S>LESP
ExAC
TOPMed
gnomAD
rs76522991641R>CExAC
gnomAD
COSV5296700441R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5296729142G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs128286054942G>SgnomAD
rs77653396143A>SExAC
TOPMed
gnomAD
rs77096758243A>VExAC
TOPMed
gnomAD
rs20023720945E>DTOPMed
rs185155498945E>KEnsembl
COSV5296908046F>Icosmic curated
COSV5297182947V>Lcosmic curated
rs76849291448E>GExAC
rs185155430548E>KTOPMed
gnomAD
rs185155430548E>QTOPMed
gnomAD
COSV9927310349R>Lcosmic curated
rs159001333751V>AEnsembl
rs159001333751V>EEnsembl
rs159001333751V>GEnsembl
rs146795672051V>MTOPMed
rs145970084954F>LTOPMed
gnomAD
rs145970084954F>VTOPMed
gnomAD
rs116259748155A>TgnomAD
rs53344192356R>L1000Genomes
ExAC
gnomAD
rs77815220859P>AExAC
gnomAD
COSV52967052
rs778152208
59P>Scosmic curated
ExAC
gnomAD
rs77815220859P>TExAC
gnomAD
rs121619639060G>ATOPMed
gnomAD
rs121619639060G>ETOPMed
gnomAD
rs56510978360G>R1000Genomes
ExAC
gnomAD
rs156480527061V>IEnsembl
rs74857530362V>IExAC
TOPMed
gnomAD
rs75524021463I>MExAC
TOPMed
gnomAD
rs1119078264Y>*gnomAD
rs185154936067S>WTOPMed
gnomAD
rs133147894268R>CgnomAD
rs141095681369P>LTOPMed
gnomAD
rs141095681369P>QTOPMed
gnomAD
rs185154833169P>SgnomAD
rs116236751870C>WgnomAD
rs144245434571C>GTOPMed
gnomAD
rs125329421371C>STOPMed
gnomAD
rs146944494073P>SgnomAD
COSV52973599
rs2133927846
74R>*cosmic curated
Ensembl
rs37465732574R>KESP
TOPMed
rs76169771675V>IExAC
TOPMed
gnomAD
rs76169771675V>LExAC
TOPMed
gnomAD
rs119025953776V>MTOPMed
rs185154408378E>GTOPMed
rs143524755079Y>CTOPMed
COSV5296763179Y>Hcosmic curated
rs136161690180L>FTOPMed
gnomAD
rs136161690180L>ITOPMed
gnomAD
rs159001191681N>HEnsembl
rs37676288681N>KESP
ExAC
TOPMed
gnomAD
rs100183137981N>SEnsembl
rs90704523482G>RTOPMed
TCGA novel82G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV9927220582G>Wcosmic curated
COSV9927313883A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs77044944084V>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs121386227885R>CTOPMed
gnomAD
COSV5296763786E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs76226695986E>QExAC
gnomAD
COSV9927316788S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs124708952488S>TTOPMed
rs126164893589I>VgnomAD
rs57514460890H>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ExAC
dbSNP
gnomAD
rs119094913490H>YTOPMed
rs131326790391C>SgnomAD
rs124317748594V>ITOPMed
gnomAD
rs77179977695E>DExAC
TOPMed
gnomAD
rs91732023496E>*TOPMed
gnomAD
rs14200321096E>G1000Genomes
ExAC
gnomAD
rs74594176597I>MExAC
TOPMed
gnomAD
rs185151780897I>NTOPMed
rs119890919998S>ATOPMed
gnomAD
rs133443913898S>LgnomAD
rs119890919998S>PTOPMed
gnomAD
rs185151661599T>MTOPMed
gnomAD
rs185151677299T>SEnsembl
rs757447272100L>PExAC
gnomAD
rs62626267100L>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV52966047102Q>*cosmic curated
rs1851515417102Q>HEnsembl
COSV99272415103K>Ecosmic curated
rs1275124152104L>PgnomAD
rs570996334106D>H1000Genomes
ExAC
gnomAD
rs570996334106D>N1000Genomes
ExAC
gnomAD
COSV52970999106D>Ycosmic curated
rs752472843107Q>HExAC
gnomAD
rs758204885107Q>PExAC
gnomAD
COSV99040900108S>*cosmic curated
rs1851514251108S>PTOPMed
rs1851513951109G>DTOPMed
gnomAD
rs764917705109G>SExAC
gnomAD
rs1851513480111D>GTOPMed
gnomAD
rs765808553113I>MExAC
rs1590011573113I>TEnsembl
TCGA novel114R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs925912566114R>LgnomAD
TCGA novel115I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs760191631116R>PExAC
gnomAD
rs1338885054117K>*gnomAD
rs1851511672118P>LTOPMed
rs1297556025120H>RTOPMed
gnomAD
rs1460394214121T>AgnomAD
COSV52972736123N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99271948124P>Hcosmic curated
rs763347299124P>LExAC
TOPMed
gnomAD
rs763347299124P>RExAC
TOPMed
gnomAD
rs1169268929125S>GgnomAD
rs1383642197126I>*TOPMed
gnomAD
rs1447117766
COSV99273202
127Q>HTOPMed
gnomAD
cosmic curated
COSV108026438128G>Vcosmic curated
rs1851509696129Q>*Ensembl
rs1590011424131H>PEnsembl
rs1424763452131H>QTOPMed
gnomAD
rs1851509539131H>YTOPMed
rs770219738132P>LExAC
TOPMed
gnomAD
rs148567788132P>TESP
ExAC
TOPMed
gnomAD
COSV52970861133F>Lcosmic curated
COSV52970795134T>Ncosmic curated
rs1481902885135N>SgnomAD
rs147532658137P>LVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV52969769137P>Tcosmic curated
rs1210235505
COSV52971757
140F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
gnomAD
NCI-TCGA Cosmic
cosmic curated
COSV105071440
rs1564804133
141R>Ccosmic curated
Ensembl
rs143358234141R>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1851507313142G>RTOPMed
rs1442210795143L>ITOPMed
gnomAD
rs1340906043144R>CTOPMed
gnomAD
rs747149437144R>HExAC
gnomAD
rs758314694145P>RExAC
gnomAD
COSV99272249146R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1424132615146R>GTOPMed
gnomAD
rs752700572146R>LExAC
gnomAD
COSV52967445
rs752700572
146R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs1851505673147E>GEnsembl
rs778530734148V>FExAC
TOPMed
gnomAD
rs2133924762148V>GEnsembl
COSV52967168
rs1048673338
149Q>*cosmic curated
TOPMed
rs754807093150D>HExAC
TOPMed
gnomAD
rs1851504967151P>AEnsembl
COSV99272597151P>Hcosmic curated
rs1851504668152A>TTOPMed
rs1363649487152A>VgnomAD
rs1851504180153P>QEnsembl
rs1564803977154A>PEnsembl
rs1421443906154A>VgnomAD
rs373156481155Q>*ESP
gnomAD
COSV52966084
rs995062097
155Q>Rcosmic curated
Ensembl
rs1226997498156D>EgnomAD
COSV105071515
rs1851265432
161L>Qcosmic curated
Ensembl
COSV105071547162S>Pcosmic curated
rs1851264866163A>VEnsembl
COSV105071511
rs1851264505
164V>Acosmic curated
Ensembl
rs1354773723165A>GgnomAD
rs1411329720165A>SgnomAD
rs138067900166P>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV105071508
rs138067900
166P>Rcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1282725183166P>STOPMed
gnomAD
COSV105071507
rs1851263236
167Q>Pcosmic curated
Ensembl
rs1851263063168I>LTOPMed
COSV105071506
rs1851262875
168I>Scosmic curated
Ensembl
COSV52967231
rs771404491
169L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV105071505
rs1472206434
169L>Pcosmic curated
TOPMed
gnomAD
rs778047878170L>PExAC
gnomAD
rs778047878170L>QExAC
gnomAD
COSV52966574171P>Lcosmic curated
rs1286873399171P>STOPMed
rs779055594172G>RExAC
TOPMed
gnomAD
rs779055594172G>SExAC
TOPMed
gnomAD
rs1851260166173W>*Ensembl
COSV105071504173W>Qcosmic curated
rs1473694674173W>RTOPMed
rs138505815175D>HESP
ExAC
TOPMed
gnomAD
rs138505815175D>NESP
ExAC
TOPMed
gnomAD
rs2133904692176P>LEnsembl
rs1159862173176P>STOPMed
rs1850945289177P>RTOPMed
gnomAD
rs1589988456178D>AEnsembl
rs1288866802178D>NEnsembl
rs754806911179L>FExAC
TOPMed
gnomAD
COSV52967255180P>Scosmic curated
rs201698096181T>A1000Genomes
ExAC
TOPMed
gnomAD
rs140083755181T>IESP
ExAC
TOPMed
gnomAD
rs201698096181T>P1000Genomes
ExAC
TOPMed
gnomAD
rs1589988397183D>AEnsembl
rs761422909184P>LExAC
TOPMed
gnomAD
rs1850943915184P>SEnsembl
rs1589988356185I>VEnsembl
rs1850943407186S>LTOPMed
rs765786419187S>PExAC
gnomAD
rs1850942629188S>LEnsembl
rs776912948189L>FExAC
gnomAD
rs544145409190T>I1000Genomes
ExAC
TOPMed
gnomAD
COSV52968363191S>Ccosmic curated
TCGA novel192A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1850942008192A>VEnsembl
COSV105071417193P>Acosmic curated
COSV52967595
rs747148992
193P>Lcosmic curated
ExAC
TOPMed
gnomAD
rs2133879089195P>SEnsembl
rs1850941258196M>KEnsembl
rs1850941258196M>REnsembl
COSV52970983
rs576770183
196M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1850940985197L>PTOPMed
TCGA novel
rs2133878989
198S>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
Ensembl
TCGA novel198S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1850940449199A>ETOPMed
rs779148627199A>SExAC
TOPMed
gnomAD
rs779148627199A>TExAC
TOPMed
gnomAD
rs1850940449199A>VTOPMed
rs2133878916200V>FEnsembl
rs2133878885201S>CEnsembl
rs2133878885201S>FEnsembl
rs1354135008203L>FgnomAD
rs1354135008203L>VgnomAD
rs1850939823204P>ATOPMed
COSV52971728
rs146501195
204P>Lcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs146501195204P>Q1000Genomes
ExAC
TOPMed
gnomAD
rs2133878729205I>MEnsembl
rs1369579995205I>TTOPMed
gnomAD
rs1850939296205I>VTOPMed
gnomAD
rs2133878715206V>GEnsembl
rs866156478207P>STOPMed
gnomAD
rs1850938712208A>VTOPMed
rs2133878648210T>PEnsembl
rs767264493211T>AExAC
gnomAD
COSV52972587211T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs146235728212V>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2133878615213C>REnsembl
rs2133878605213C>YEnsembl
COSV52967468214S>Acosmic curated
rs1313225853214S>LTOPMed
gnomAD
rs2133878596214S>TEnsembl
rs1420759299215A>SgnomAD
rs374213077215A>VESP
ExAC
TOPMed
gnomAD
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