P78346 · RPP30_HUMAN

  • Protein
    Ribonuclease P protein subunit p30
  • Gene
    RPP30
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

126820406080100120140160180200220240260100200

Filter Consequence

Filter Provenance

GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs14295131412A>PTOPMed
gnomAD
rs14295131412A>TTOPMed
gnomAD
COSV99056773
rs778114019
2A>Vcosmic curated
ExAC
TOPMed
gnomAD
rs7490773653V>GExAC
TOPMed
gnomAD
rs12233715143V>MTOPMed
gnomAD
rs7706457474F>LExAC
gnomAD
rs18467808484F>STOPMed
rs7786893595A>EExAC
gnomAD
rs3735895365A>SESP
TOPMed
gnomAD
COSV53298640
rs373589536
5A>Tcosmic curated
ESP
TOPMed
gnomAD
COSV532978866D>Ncosmic curated
rs18467813906D>YEnsembl
rs13548063747L>*TOPMed
gnomAD
rs7457529537L>VExAC
gnomAD
rs9917274998D>ETOPMed
gnomAD
rs7720753408D>HExAC
TOPMed
gnomAD
COSV532973048D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs7720753408D>YExAC
TOPMed
gnomAD
rs2012108479L>M1000Genomes
ExAC
TOPMed
gnomAD
COSV99521095
rs201210847
9L>Vcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs142296685210R>QTOPMed
gnomAD
rs55513249511A>T1000Genomes
ExAC
TOPMed
gnomAD
rs4128691611A>VLikely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_051870
COSV53295833
rs11544145
12G>DUniProt
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1154414512G>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs91895302813S>AEnsembl
rs96766600113S>CTOPMed
gnomAD
rs96766600113S>FTOPMed
gnomAD
COSV5329697313S>Pcosmic curated
COSV5329825314D>Ncosmic curated
rs75628343214D>YExAC
gnomAD
rs75748956215L>PExAC
TOPMed
gnomAD
rs75748956215L>QExAC
TOPMed
gnomAD
rs15106389615L>VESP
ExAC
TOPMed
gnomAD
rs77863632716K>NExAC
TOPMed
gnomAD
rs91273117217A>PTOPMed
rs91273117217A>STOPMed
rs75825760117A>VExAC
TOPMed
gnomAD
rs78010861118L>PExAC
gnomAD
rs133722238718L>VEnsembl
COSV53295366
rs377658471
19R>Ccosmic curated
ESP
TOPMed
gnomAD
rs37765847119R>SESP
TOPMed
gnomAD
rs141286418120G>*gnomAD
rs1412864181
COSV53296046
20G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
gnomAD
NCI-TCGA Cosmic
cosmic curated
rs98720543521L>IEnsembl
rs93132507121L>PTOPMed
rs74692827222V>GExAC
gnomAD
rs56352305222V>L1000Genomes
rs56352305222V>M1000Genomes
rs76815839123E>AExAC
TOPMed
gnomAD
rs57747028823E>DVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs76815839123E>GExAC
TOPMed
gnomAD
rs184678331323E>QTOPMed
gnomAD
rs184678350024T>AgnomAD
rs133811081424T>IgnomAD
rs76961117025A>TExAC
gnomAD
rs128356483425A>VgnomAD
rs121698356426A>PTOPMed
gnomAD
COSV5329607626A>Scosmic curated
rs121698356426A>TTOPMed
gnomAD
rs184678380026A>VgnomAD
COSV5329602027H>Dcosmic curated
rs37084590028L>IESP
ExAC
TOPMed
gnomAD
rs116235864329G>SgnomAD
rs184683095230Y>HTOPMed
rs184683103931S>*Ensembl
COSV5329647731S>Lcosmic curated
COSV5329591134A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs98005132535I>VTOPMed
gnomAD
rs77051739736N>KExAC
TOPMed
gnomAD
rs119394359136N>STOPMed
gnomAD
rs139888004736N>YgnomAD
rs78043151237H>NExAC
TOPMed
gnomAD
rs155486166537H>RgnomAD
COSV5329687337H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs76913675738I>VExAC
TOPMed
gnomAD
rs77705786439V>IExAC
TOPMed
gnomAD
COSV53297083
rs762322252
40D>Ncosmic curated
ExAC
COSV10458797640D>Vcosmic curated
rs184683166941F>STOPMed
gnomAD
COSV10458795241F>Ycosmic curated
rs76981617642K>RExAC
gnomAD
rs148363539143E>GTOPMed
gnomAD
rs76320690143E>KExAC
gnomAD
rs212018064144K>EEnsembl
rs14097234244K>N1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel46Q>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs75135950546Q>PExAC
gnomAD
rs75135950546Q>RExAC
gnomAD
COSV5329750647E>Gcosmic curated
COSV10638817647E>Qcosmic curated
TCGA novel48I>M
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs76398680349E>DExAC
gnomAD
rs76065867749E>GExAC
TOPMed
gnomAD
rs37284056849E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs158949332150K>NEnsembl
rs184684045051P>AgnomAD
rs184684049451P>LTOPMed
rs136864091452V>GgnomAD
rs129933024053A>DgnomAD
COSV53296673
rs1388736126
53A>Scosmic curated
gnomAD
rs129933024053A>VgnomAD
rs133057136354V>LgnomAD
rs100290798255S>CEnsembl
rs86678902857L>FEnsembl
rs128669186057L>PgnomAD
rs76481924259T>IExAC
TOPMed
gnomAD
rs37633584959T>SESP
ExAC
TOPMed
gnomAD
rs125992458460T>AgnomAD
rs75003038560T>SExAC
TOPMed
gnomAD
rs184684115862P>LgnomAD
rs36983330563I>VESP
TOPMed
gnomAD
TCGA novel65Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV5329599265Q>Rcosmic curated
rs76236299466G>ETOPMed
gnomAD
rs184684736567K>REnsembl
COSV9952069668S>Lcosmic curated
rs212018312771I>VEnsembl
rs74997547472K>*ExAC
gnomAD
COSV5329678072K>Tcosmic curated
rs76608120073I>MExAC
rs75802781273I>VExAC
TOPMed
gnomAD
rs116303813074L>SgnomAD
rs141743090775T>AgnomAD
rs146633449376R>GTOPMed
gnomAD
rs75305869876R>SExAC
TOPMed
gnomAD
COSV5329516078T>Icosmic curated
rs77821024979I>MExAC
gnomAD
rs184684786479I>SgnomAD
rs132777084379I>VEnsembl
rs14210650980I>T1000Genomes
ExAC
gnomAD
rs14788466181V>IVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV107204546
rs141541697
82S>LVariant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs77240847783D>AExAC
gnomAD
COSV5329585583D>Ncosmic curated
COSV5329766483D>Ycosmic curated
rs184684830085S>CTOPMed
gnomAD
COSV10720455585S>Fcosmic curated
rs184684839087C>GEnsembl
rs184684843088N>DTOPMed
rs76795280688N>KEnsembl
rs77592068988N>SExAC
gnomAD
rs93441678989V>ITOPMed
COSV10511656090L>*cosmic curated
rs74725860790L>WExAC
gnomAD
rs77306999191R>KExAC
TOPMed
gnomAD
COSV5329753391R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs138301571792A>VTOPMed
gnomAD
rs95054572793T>ATOPMed
gnomAD
rs95054572793T>PTOPMed
gnomAD
COSV5329526196R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs56584995396R>S1000Genomes
ExAC
gnomAD
rs77037607196R>TExAC
gnomAD
rs141614910897A>DTOPMed
gnomAD
rs141614910897A>VTOPMed
gnomAD
COSV5329645998R>Lcosmic curated
rs76724415198R>QExAC
gnomAD
rs75907658998R>WExAC
TOPMed
gnomAD
rs754138092100Y>CExAC
gnomAD
rs754138092100Y>FExAC
gnomAD
rs1846890068100Y>HTOPMed
gnomAD
COSV53296917101D>Acosmic curated
rs1162291015101D>HTOPMed
gnomAD
rs1162291015101D>YTOPMed
gnomAD
rs1429554236102V>ATOPMed
gnomAD
COSV53296582104A>Vcosmic curated
rs765698946105V>FExAC
gnomAD
rs147735522113F>LESP
ExAC
TOPMed
gnomAD
rs1304733241113F>SVariant of uncertain significance (Ensembl)gnomAD
TCGA novel114H>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs751709810114H>RExAC
gnomAD
rs1361952972115I>TgnomAD
COSV99520997115I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs752919026117C>YExAC
gnomAD
COSV99520834121D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1163563364122V>MTOPMed
gnomAD
rs756357984125V>LExAC
TOPMed
gnomAD
COSV53298051126C>Fcosmic curated
rs777511045126C>RExAC
gnomAD
rs777511045126C>SExAC
gnomAD
rs1048418628127I>MTOPMed
gnomAD
rs1846993630129V>ATOPMed
COSV53296271129V>Ecosmic curated
rs1255232367129V>ITOPMed
gnomAD
rs1255232367129V>LTOPMed
gnomAD
rs1230759778130T>ATOPMed
COSV99520814131E>*cosmic curated
COSV99520684
rs778974767
131E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs745798259132K>IExAC
TOPMed
gnomAD
rs745798259132K>RExAC
TOPMed
gnomAD
rs199793690133L>PESP
ExAC
TOPMed
gnomAD
rs199710578134P>L1000Genomes
ExAC
gnomAD
rs199710578134P>R1000Genomes
ExAC
gnomAD
rs1348660616134P>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs746630320138K>RExAC
TOPMed
gnomAD
rs185464759139R>K1000Genomes
ExAC
gnomAD
TCGA novel140P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs895501068140P>LgnomAD
COSV107204544
rs1459168167
140P>SVariant of uncertain significance (Ensembl)cosmic curated
gnomAD
rs149193090141P>AESP
ExAC
TOPMed
gnomAD
COSV53295769141P>Hcosmic curated
rs554911549144V>L1000Genomes
ExAC
TOPMed
gnomAD
COSV99520854144V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108071176
rs768419490
145A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs771280472146I>NExAC
TOPMed
gnomAD
rs771280472146I>TExAC
TOPMed
gnomAD
COSV99521023
rs376621947
146I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53297632147D>Gcosmic curated
rs760053492148R>*ExAC
gnomAD
rs772501376148R>QExAC
gnomAD
rs962295699149G>DEnsembl
COSV53296953
rs962295699
149G>Vcosmic curated
Ensembl
rs1342685311151A>PgnomAD
rs1847120815151A>VTOPMed
rs1295004229153E>KTOPMed
gnomAD
rs370703993154L>FESP
ExAC
TOPMed
gnomAD
rs761961036155V>AExAC
gnomAD
rs761961036155V>DExAC
gnomAD
rs1847121069155V>FTOPMed
gnomAD
rs1847121069155V>LTOPMed
gnomAD
rs923550334156Y>CTOPMed
gnomAD
rs1847121232157S>ITOPMed
rs765040581157S>RExAC
TOPMed
gnomAD
rs1486665912159A>GgnomAD
rs758345797159A>PExAC
TOPMed
gnomAD
rs758345797159A>TExAC
TOPMed
gnomAD
rs1202982945160I>VgnomAD
rs189155403161K>E1000Genomes
ExAC
TOPMed
gnomAD
rs1433269417162D>YgnomAD
COSV53297848
rs1393864852
163S>Fcosmic curated
gnomAD
rs201662404164T>A1000Genomes
ExAC
TOPMed
gnomAD
COSV53295961165M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs754483822165M>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs754483822165M>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs374236929166R>KESP
ExAC
TOPMed
gnomAD
rs377631920166R>SESP
ExAC
TOPMed
gnomAD
rs1288547413167R>STOPMed
gnomAD
rs769375015167R>TExAC
rs746274113168Y>*ExAC
gnomAD
rs779310913168Y>CExAC
TOPMed
gnomAD
COSV53296198
rs1301325714
169T>Rcosmic curated
gnomAD
rs1847121988170I>VEnsembl
COSV99520841
rs2120225349
171S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs936427666172S>NEnsembl
rs181966124173A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
dbSNP
COSV99520637174L>Icosmic curated
rs148223550175N>HVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1847122231175N>SEnsembl
rs776721938177M>IExAC
TOPMed
gnomAD
rs1236528338177M>LgnomAD
COSV53296107177M>Tcosmic curated
rs1236528338177M>VgnomAD
rs1228006734178Q>ETOPMed
rs762062686178Q>HExAC
gnomAD
rs769295155180C>STOPMed
gnomAD
rs951743316181K>TTOPMed
COSV99521071182G>*cosmic curated
rs1468462824183K>MgnomAD
COSV53297970183K>Ncosmic curated
rs1468462824183K>RgnomAD
rs753382450184N>KExAC
TOPMed
COSV104587967186I>Ncosmic curated
rs1436373999186I>VgnomAD
COSV99520790
rs1310837333
187I>Mcosmic curated
TOPMed
gnomAD
rs1554863088187I>VEnsembl
COSV53296613
rs756932111
188S>Ccosmic curated
ExAC
TOPMed
gnomAD
COSV53296613
COSV99521068
188S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1847129330189S>RgnomAD
rs753426783193R>KExAC
TOPMed
gnomAD
rs1847133897194P>LgnomAD
rs763470383194P>SExAC
gnomAD
COSV99520922196E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1847134005197I>MTOPMed
rs1020620061197I>VTOPMed
gnomAD
rs1232101316199G>RgnomAD
TCGA novel200P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV53298485201Y>Ccosmic curated
rs756880890202D>EExAC
TOPMed
gnomAD
COSV53296413
COSV53296719
rs764936639
203V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
gnomAD
COSV53296413
COSV53296719
rs764936639
203V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV108071178
rs1191694156
204A>Tcosmic curated
gnomAD
rs1847134297206L>IEnsembl
rs145322778207G>AVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs145322778207G>DVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs771713102207G>SExAC
gnomAD
rs145322778207G>VVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV53298085208L>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs550432912210F>L1000Genomes
ExAC
TOPMed
gnomAD
rs1419480750211G>AgnomAD
rs570515797214E>V1000Genomes
rs764741484216D>EExAC
TOPMed
gnomAD
rs1564715309216D>VEnsembl
rs137907824217A>SVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV53295404
rs137907824
217A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53295340
rs762627803
217A>Vcosmic curated
ExAC
TOPMed
gnomAD
COSV53297465218K>Ncosmic curated
rs753158420219A>PExAC
TOPMed
gnomAD
rs756568497220A>SExAC
gnomAD
COSV99520857
rs868665866
220A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs778408171221V>MExAC
TOPMed
gnomAD
COSV53296236222S>Fcosmic curated
COSV53296740222S>Pcosmic curated
COSV53297800222S>Ycosmic curated
rs757345207224N>SExAC
TOPMed
gnomAD
COSV106055641
rs142339922
226R>*cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs746046571226R>LExAC
gnomAD
COSV99521020
rs746046571
226R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs772376915227A>TExAC
TOPMed
gnomAD
rs779691045227A>VExAC
gnomAD
rs535330785228A>GLikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs566449413228A>T1000Genomes
ExAC
TOPMed
gnomAD
rs535330785228A>VLikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1476083412229L>RgnomAD
rs1847139366230L>FTOPMed
rs762574593231H>NExAC
TOPMed
gnomAD
rs112020240231H>PgnomAD
COSV99520693
rs112020240
231H>Rcosmic curated
gnomAD
rs762574593231H>YExAC
TOPMed
gnomAD
rs528447803233E>G1000Genomes
TOPMed
gnomAD
rs528447803233E>V1000Genomes
TOPMed
gnomAD
COSV53296546
rs139597628
235R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1052741920236K>QTOPMed
gnomAD
rs747210339238A>TExAC
gnomAD
COSV99520589238A>Vcosmic curated
rs979546822239F>LTOPMed
rs754754213239F>LExAC
TOPMed
gnomAD
rs1488724602240G>RgnomAD
rs1847188486241I>VTOPMed
gnomAD
rs1305476162242I>FgnomAD
rs753787570242I>TTOPMed
gnomAD
rs1305476162242I>VgnomAD
rs780998177243S>AExAC
gnomAD
rs1847188657243S>FEnsembl
rs769774903244T>AExAC
gnomAD
rs1260960857244T>IgnomAD
rs1395217848247K>REnsembl
rs1202924095248P>LTOPMed
gnomAD
rs772699207248P>SExAC
TOPMed
gnomAD
COSV53296445
rs185152546
249R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV105842274
rs748899504
249R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs773991831251S>LExAC
COSV107204545253G>*cosmic curated
rs989079033253G>ETOPMed
rs759130030253G>RExAC
gnomAD
COSV99520686253G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1847189552254D>EEnsembl
rs149301882254D>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777173529256D>VExAC
gnomAD
rs762386476257C>YExAC
TOPMed
gnomAD
rs144567016258L>PESP
TOPMed
rs1451851105259P>AgnomAD
rs1451851105259P>SgnomAD
rs1653163553260A>PEnsembl
rs1847189746261S>AgnomAD
rs765902589261S>FExAC
gnomAD
rs1013969651262K>RTOPMed
gnomAD
rs1327851879263K>NTOPMed
gnomAD
COSV53298409264A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs985611123266C>STOPMed
rs201939715267E>ATOPMed
gnomAD
rs1847190010267E>DEnsembl
rs201939715267E>VTOPMed
gnomAD
rs1386063756268G>CgnomAD
rs1386063756268G>SgnomAD
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