Q9UMR5 · PPT2_HUMAN

  • Protein
    Lysosomal thioesterase PPT2
  • Gene
    PPT2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

130220406080100120140160180200220240260280300
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs13308515032L>RgnomAD
rs14394052243G>RTOPMed
COSV992782534L>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs31346045C>*1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs17836069405C>STOPMed
VAR_027107
COSV52999868
rs3134604
5C>W
UniProt
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs7495902106G>RExAC
TOPMed
gnomAD
rs9382754179L>FEnsembl
rs7552815099L>HExAC
TOPMed
gnomAD
rs7552815099L>PExAC
TOPMed
gnomAD
rs178361028511A>TEnsembl
rs77925836713W>*ExAC
gnomAD
rs77925836713W>CExAC
gnomAD
rs74858548014V>IExAC
gnomAD
rs178361229216L>RTOPMed
gnomAD
rs178361191916L>VEnsembl
rs178361268317L>VTOPMed
gnomAD
rs128041582519P>SgnomAD
rs19956926220F>L1000Genomes
ExAC
TOPMed
gnomAD
rs77259661020F>SExAC
gnomAD
rs77054484322P>TExAC
COSV99278676
rs945364426
23L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs14997828625L>PESP
TOPMed
gnomAD
rs104247447626L>FgnomAD
TCGA novel28A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV5299748729P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs212738616830A>GEnsembl
rs55201384731P>H1000Genomes
ExAC
gnomAD
COSV99278463
rs552013847
31P>Lcosmic curated
1000Genomes
ExAC
gnomAD
COSV52998565
rs766537037
32H>Rcosmic curated
ExAC
gnomAD
VAR_027108
COSV52999101
rs3096696
34A>E
UniProt
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV9927871035S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs77920691035S>TExAC
gnomAD
COSV52997865
rs758805739
36Y>*cosmic curated
ExAC
gnomAD
rs74853215436Y>HExAC
gnomAD
rs136932039238P>QgnomAD
COSV52998128
rs1783624003
38P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
COSV5299982040I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs74761380342V>AExAC
TCGA novel42V>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs139632001243H>RgnomAD
rs178362761345L>PEnsembl
TCGA novel46F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs101543921747D>HTOPMed
gnomAD
rs101543921747D>NTOPMed
gnomAD
COSV5299742847D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs99475670348S>NEnsembl
rs141243308849S>WTOPMed
gnomAD
rs53433775350Y>CVariant of uncertain significance (Ensembl)1000Genomes
ExAC
gnomAD
rs134076331651S>ITOPMed
gnomAD
rs134076331651S>NTOPMed
gnomAD
rs178363127952F>STOPMed
gnomAD
TCGA novel52F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs102753520653R>HTOPMed
gnomAD
rs212738639654H>YEnsembl
COSV5299854755L>Mcosmic curated
rs178363202855L>QTOPMed
rs124671779159I>VTOPMed
gnomAD
rs158260416460N>DEnsembl
rs14338672760N>S1000Genomes
ExAC
TOPMed
gnomAD
rs77533010261E>DExAC
gnomAD
rs133860469861E>GgnomAD
rs145422791863H>DgnomAD
rs74900728963H>QExAC
TOPMed
gnomAD
rs145422791863H>YgnomAD
rs178366458765G>EEnsembl
COSV5299883865G>Wcosmic curated
rs178366491166T>ITOPMed
gnomAD
rs77419722967V>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs143553819372D>HgnomAD
rs103916197173L>FTOPMed
gnomAD
COSV5299811574F>Lcosmic curated
COSV5299753174F>Vcosmic curated
rs156181218775D>YEnsembl
TCGA novel77R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel
rs1368620831
78E>A
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
gnomAD
rs90029865878E>DEnsembl
rs138616058980L>FgnomAD
rs212738705981R>*Ensembl
rs178367033685E>*Ensembl
rs120987542487V>MTOPMed
gnomAD
rs14878880191R>LESP
ExAC
TOPMed
gnomAD
rs14878880191R>QESP
ExAC
TOPMed
gnomAD
rs76536268096P>RExAC
TOPMed
gnomAD
rs105220735797I>MTOPMed
gnomAD
COSV52998301
COSV52998301,COSV52998559
COSV52998559
98M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs133015971398M>LgnomAD
rs6240274998M>TEnsembl
rs76430924599A>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV99278572
rs764309245
99A>TVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
COSV99278239101A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108026734101A>Tcosmic curated
rs763168076102P>AExAC
TOPMed
gnomAD
rs1403917626102P>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs764326565106H>QExAC
gnomAD
COSV52997718
rs751977544
111S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
rs1161647062112Q>EgnomAD
rs763113280116V>LExAC
gnomAD
rs763113280116V>MExAC
gnomAD
COSV52997723
rs1561814096
117C>Ycosmic curated
Ensembl
rs757363390118R>PTOPMed
rs757363390118R>QTOPMed
COSV52998979118R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs143821033119A>TESP
gnomAD
rs1355927739120L>RTOPMed
gnomAD
COSV52998496
rs1351482949
120L>Vcosmic curated
TOPMed
gnomAD
COSV52999473122S>Fcosmic curated
rs762231614123V>DExAC
gnomAD
rs143092169123V>F1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143092169123V>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1783749475124M>VTOPMed
rs1411790409125D>EgnomAD
rs767828476126D>EExAC
gnomAD
rs1240137074128N>KgnomAD
rs1378803103128N>SgnomAD
rs1783751305129V>MEnsembl
COSV52997983131S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs866294299132F>LEnsembl
COSV99278348134S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs750902051135L>RExAC
gnomAD
COSV52998880136S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV52998880136S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs756693747139Q>*ExAC
gnomAD
rs1783752783140M>TEnsembl
COSV52997399
rs1389953414
141G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV99278697
rs957783092
143Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV99278240145D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs375926799145D>GEnsembl
COSV52998314
rs749336768
146T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs774617515147D>GExAC
TCGA novel
rs2127388696
148Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
Ensembl
rs761954503150K>MExAC
gnomAD
COSV52999894152L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs773739394153F>LExAC
gnomAD
rs767855846153F>VExAC
gnomAD
TCGA novel
rs1683926193
154P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
gnomAD
rs1238886923155T>ITOPMed
gnomAD
TCGA novel155T>P
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV52997482
rs761211332
155T>Pcosmic curated
ExAC
gnomAD
rs1238886923155T>STOPMed
gnomAD
COSV52999483156S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs766967673158R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV104535032
rs754501053
158R>Qcosmic curated
ExAC
gnomAD
rs766967673158R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ExAC
TOPMed
dbSNP
gnomAD
rs1248496149159S>PgnomAD
rs1783768192160N>IgnomAD
rs1246097359161L>FTOPMed
gnomAD
rs1783769342161L>HgnomAD
rs758022403163R>QExAC
gnomAD
rs752330755163R>WExAC
TOPMed
gnomAD
rs777494940166Y>CExAC
gnomAD
rs79615219166Y>HEnsembl
rs563152656167S>G1000Genomes
ExAC
gnomAD
rs781104564167S>NExAC
gnomAD
COSV52999826168P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel168P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1783773561170G>DEnsembl
COSV52997523171Q>Hcosmic curated
rs1367906105171Q>RgnomAD
rs745849337172E>KExAC
gnomAD
rs1783774590175I>VEnsembl
COSV52999680177N>Tcosmic curated
COSV52997822178Y>Hcosmic curated
rs1366252908180H>RTOPMed
gnomAD
rs768722360180H>YExAC
gnomAD
TCGA novel182P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1323452003183H>YgnomAD
rs752170776185D>NExAC
TOPMed
gnomAD
rs1276119175187L>SgnomAD
rs1227434581190N>SgnomAD
COSV61354174192S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1783884789193S>NEnsembl
rs56024180197L>PEnsembl
rs751281513198I>VExAC
gnomAD
rs780977621199N>SExAC
gnomAD
COSV61354446200G>Acosmic curated
COSV61353921200G>Rcosmic curated
COSV61354935
rs942276521
204H>Ycosmic curated
TOPMed
COSV61355337205P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1419183934207A>GTOPMed
rs1783886950207A>SEnsembl
rs555930616209V>I1000Genomes
ExAC
TOPMed
gnomAD
rs1254242116210W>*gnomAD
COSV100246921
rs1021465267
211R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV61354914
rs770180084
211R>Wcosmic curated
ExAC
TOPMed
gnomAD
COSV61355073212K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs890076043213N>STOPMed
COSV61353989215L>Mcosmic curated
rs367909223216R>CVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV61353817
rs776105874
216R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs776105874216R>PExAC
TOPMed
gnomAD
rs968548331217V>LTOPMed
gnomAD
rs762446904218G>RExAC
TOPMed
gnomAD
rs762446904218G>SExAC
TOPMed
gnomAD
rs1428529048219H>RgnomAD
rs1398110703221V>LTOPMed
gnomAD
rs1398110703221V>MTOPMed
gnomAD
rs750208098223I>TExAC
TOPMed
gnomAD
rs1783902445227D>NTOPMed
gnomAD
rs1440856440228D>GTOPMed
gnomAD
COSV61354541230V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1783903559230V>FgnomAD
rs1295298058231I>FgnomAD
rs1341455536232T>IgnomAD
rs556550910235Q>EVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs753877007235Q>HExAC
gnomAD
rs556550910235Q>KVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
COSV61354851238F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV61354738238F>Scosmic curated
rs2127397701239F>IEnsembl
rs1784232431239F>STOPMed
rs1784232657240G>SEnsembl
rs372154109242Y>CESP
ExAC
TOPMed
gnomAD
COSV61353828246E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1784233617247T>AEnsembl
rs941565441248V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs1430940030249L>PTOPMed
gnomAD
COSV105202410251M>Icosmic curated
COSV100247066252E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1305823414253E>KTOPMed
CA249191
COSV100247179
RCV000202988
rs771678882
256V>IVariant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
TCGA novel258L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs772724213258L>VExAC
TOPMed
gnomAD
rs766049550259R>QExAC
gnomAD
rs760386503259R>WExAC
TOPMed
gnomAD
TCGA novel261S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs564627279262F>S1000Genomes
ExAC
gnomAD
rs2127398143263G>AEnsembl
COSV61355235263G>Wcosmic curated
TCGA novel267L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs765235405268L>WExAC
gnomAD
rs752752708269A>VExAC
TOPMed
gnomAD
rs761789089270R>GExAC
TOPMed
gnomAD
COSV61353944
rs767651019
270R>Lcosmic curated
ExAC
TOPMed
gnomAD
rs767651019270R>PExAC
TOPMed
gnomAD
COSV61353901
COSV61353944
rs767651019
270R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs761789089270R>WExAC
TOPMed
gnomAD
COSV61353901
COSV61353901,COSV61353944
COSV61353944
272A>P
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100246738273I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100247129
rs756387699
273I>Rcosmic curated
ExAC
gnomAD
rs1476236459274V>ATOPMed
rs1643502366274V>LTOPMed
rs780229679275R>TExAC
TOPMed
gnomAD
rs201635436277P>QEnsembl
rs915296613277P>SEnsembl
rs145104389278M>TESP
ExAC
gnomAD
rs767427607278M>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1264744664280G>STOPMed
gnomAD
rs528752823281I>V1000Genomes
ExAC
TOPMed
gnomAD
rs771423260284T>IExAC
gnomAD
TCGA novel284T>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV61354420286W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1311712488287H>NTOPMed
gnomAD
rs1784257922288S>CEnsembl
rs1784258194289N>STOPMed
gnomAD
COSV100246917
rs144778647
290R>Ccosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144778647290R>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV61353929
rs1178671541
290R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs2127398336294E>KEnsembl
rs1784259610296C>RgnomAD
COSV100246965297I>Fcosmic curated
rs770595939297I>TExAC
TOPMed
gnomAD
COSV61354059298E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104535016300W>*cosmic curated
rs1784260431300W>STOPMed
rs2127398368301L>HEnsembl
rs1042610375302S>PEnsembl
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