Q5T215 · TPC3L_HUMAN

  • Protein
    Trafficking protein particle complex subunit 3-like protein
  • Gene
    TRAPPC3L
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    3/5

Variants

118120406080100120140160180
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs11579895353R>CTOPMed
gnomAD
rs3686244493R>HESP
ExAC
TOPMed
gnomAD
rs3686244493R>LESP
ExAC
TOPMed
gnomAD
rs9229342084P>AEnsembl
rs1157480255A>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs17737264316H>RTOPMed
rs9143565697R>*TOPMed
gnomAD
rs1862982697R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs13962791188R>GTOPMed
rs17737255368R>TTOPMed
TCGA novel11Y>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs130926207012H>RTOPMed
gnomAD
rs55597286613K>*1000Genomes
ExAC
gnomAD
rs135541959414I>KTOPMed
gnomAD
rs135541959414I>TTOPMed
gnomAD
rs116393670915N>KTOPMed
rs52867208417D>G1000Genomes
gnomAD
rs37385557818L>F1000Genomes
ESP
TOPMed
gnomAD
rs177358039820V>AEnsembl
rs37075360521L>PVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs37607887923Y>CESP
ExAC
TOPMed
gnomAD
rs75856552625A>SExAC
gnomAD
rs127865289025A>VTOPMed
gnomAD
rs130344421528A>VTOPMed
gnomAD
rs123484931829Q>*gnomAD
rs123484931829Q>KgnomAD
rs74910969331C>RExAC
gnomAD
rs139174539332K>ETOPMed
gnomAD
TCGA novel32K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs211524863335E>GEnsembl
rs131084670035E>KTOPMed
gnomAD
rs131084670035E>QTOPMed
gnomAD
rs139594504639D>NTOPMed
gnomAD
rs177357704239D>VEnsembl
rs139594504639D>YTOPMed
gnomAD
rs146870272442Q>KgnomAD
rs177357630744L>FEnsembl
rs136371594645D>ETOPMed
gnomAD
rs95522810447M>IgnomAD
rs97269914447M>TTOPMed
gnomAD
rs137625815248G>D1000Genomes
TOPMed
gnomAD
rs133647130649Y>*TOPMed
gnomAD
rs177337403249Y>CTOPMed
rs177337430249Y>HTOPMed
rs138426285850G>DgnomAD
rs75105940850G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs105277853752G>ATOPMed
gnomAD
rs105277853752G>ETOPMed
gnomAD
rs76615309952G>RExAC
gnomAD
rs141640670753T>KTOPMed
gnomAD
rs141640670753T>MTOPMed
gnomAD
rs125776742154R>QTOPMed
gnomAD
rs11522085454R>W1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs177337019756V>MgnomAD
rs144492508757E>ATOPMed
gnomAD
rs86645435857E>KEnsembl
rs158329514258D>EEnsembl
rs158329514758D>GEnsembl
rs20051030959F>L1000Genomes
ExAC
TOPMed
gnomAD
rs134858893059F>STOPMed
rs158329512160L>*Ensembl
rs76575417262R>*ExAC
TOPMed
gnomAD
rs96809176362R>LEnsembl
rs96809176362R>QEnsembl
rs76223347163S>FExAC
gnomAD
rs158329508565V>LTOPMed
gnomAD
rs158329508565V>MTOPMed
gnomAD
rs122642629668C>*TOPMed
gnomAD
rs137369663068C>RgnomAD
rs122642629668C>WTOPMed
gnomAD
rs129707481669H>YTOPMed
gnomAD
rs100967394670S>GgnomAD
rs211523542970S>NEnsembl
rs100967394670S>RgnomAD
rs177336461871Y>*Ensembl
rs135579244773E>*TOPMed
gnomAD
COSV6398738673E>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs53437710575I>T1000Genomes
TOPMed
gnomAD
rs128573882875I>VgnomAD
rs74707935976D>HExAC
TOPMed
gnomAD
rs131904531076D>VgnomAD
rs177336283677I>LgnomAD
rs145892611577I>TTOPMed
gnomAD
rs122286786179A>VgnomAD
rs139291925680Q>*TOPMed
gnomAD
rs156233567782A>VTOPMed
gnomAD
rs75109274884K>RExAC
TOPMed
gnomAD
rs75109274884K>TExAC
TOPMed
gnomAD
rs37012638885M>IESP
TOPMed
gnomAD
rs104430446585M>KVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs104430446585M>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs177189719686Y>CgnomAD
rs177189696590T>ITOPMed
rs135312521491P>STOPMed
gnomAD
rs135312521491P>TTOPMed
gnomAD
rs96479645193V>MEnsembl
rs137243743194T>ITOPMed
gnomAD
rs37550572495C>GESP
ExAC
TOPMed
gnomAD
rs37550572495C>RESP
ExAC
TOPMed
gnomAD
rs125957704296N>ITOPMed
gnomAD
rs146596314496N>KTOPMed
gnomAD
rs125957704296N>STOPMed
gnomAD
rs119012442796N>YTOPMed
gnomAD
rs75808543597N>HExAC
gnomAD
rs122730944997N>SgnomAD
rs75808543597N>YExAC
gnomAD
rs99071498199S>NgnomAD
rs956272155102E>ATOPMed
gnomAD
TCGA novel103F>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel103F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1039313924109K>NTOPMed
gnomAD
TCGA novel109K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs765689304111P>LExAC
rs1483191360111P>TTOPMed
gnomAD
COSV62068824
rs1031888173
112L>Mcosmic curated
gnomAD
rs1401025314113V>ATOPMed
gnomAD
rs1401025314113V>ETOPMed
gnomAD
rs187329863114E>G1000Genomes
TOPMed
gnomAD
rs1256575357116V>LgnomAD
rs1225282212117E>*TOPMed
gnomAD
rs1225282212117E>KTOPMed
gnomAD
COSV105259857
TCGA novel
118E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA
rs1287519179120P>LgnomAD
rs1391941317120P>SgnomAD
rs142395441121A>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV62067768
rs760762201
123R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs368049149123R>LVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs368049149123R>PVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs368049149123R>QVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs898564008125S>FVariant of uncertain significance (Ensembl)Ensembl
rs1174771663129C>SgnomAD
rs1771894561130N>SEnsembl
rs1411638212132L>FTOPMed
gnomAD
rs1160435846133C>SgnomAD
rs1160435846133C>YgnomAD
COSV62067824
rs1472695921
134G>Ecosmic curated
TOPMed
gnomAD
rs772283149135I>SExAC
TOPMed
gnomAD
rs1184760100135I>VgnomAD
rs1204304978137R>TTOPMed
rs199864813140L>SEnsembl
TCGA novel142M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs535532375143V>I1000Genomes
ExAC
gnomAD
rs1377553428144H>PTOPMed
rs568107027146A>VVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1421760587151F>LTOPMed
gnomAD
rs1317211652153Q>KVariant of uncertain significance (Ensembl)gnomAD
rs1771843212153Q>PTOPMed
rs1562334685155R>KEnsembl
rs745600530158G>S1000Genomes
ExAC
TOPMed
gnomAD
rs374940815160S>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2115150556160S>NEnsembl
rs1771842940160S>RTOPMed
rs374940815160S>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1771842907161V>MTOPMed
rs1771842825162T>KEnsembl
TCGA novel164I>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV62067916
rs1004645548
165G>Ecosmic curated
TOPMed
gnomAD
rs1015614770165G>RTOPMed
gnomAD
rs1048991751166I>KVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1048991751166I>RVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs757685700166I>VExAC
TOPMed
gnomAD
COSV62067676169L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1323331346169L>RgnomAD
rs1404367221171K>EVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1365856920171K>MgnomAD
TCGA novel171K>S
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV62068379
rs749533621
172R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV105826719
rs780213422
172R>Qcosmic curated
TOPMed
gnomAD
rs564420451173D>E1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel174E>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV62067876
rs1044258281
174E>Kcosmic curated
TOPMed
gnomAD
rs1583262809175K>EEnsembl
rs1771841759176K>ETOPMed
rs1771841623177Y>CTOPMed
rs1476369818177Y>NgnomAD
rs367619378179G>AESP
TOPMed
gnomAD
rs199732981179G>RLikely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1294294292180K>*TOPMed
gnomAD
rs1341461125180K>NTOPMed
gnomAD
rs916875407180K>RTOPMed
gnomAD
rs1162682585181K>TTOPMed
gnomAD
rs1275477396182*>CgnomAD
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