K7EJC4 · K7EJC4_HUMAN

  • Protein
    Synaptotagmin 5
  • Gene
    SYT5
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

115220406080100120140
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs14891902643P>ATOPMed
gnomAD
rs12655664613P>LTOPMed
gnomAD
VAR_052240
COSV54748847
rs2301279
4E>DUniProt
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
dbSNP
rs15999486766P>SEnsembl
rs7568116517T>AExAC
TOPMed
gnomAD
rs16520687388P>LEnsembl
rs20861130738P>STOPMed
rs77751623810P>LExAC
TOPMed
gnomAD
rs208611273711P>QTOPMed
rs208611270412S>WEnsembl
rs208611257513P>LEnsembl
rs20174690613P>S1000Genomes
ExAC
gnomAD
rs208611246915T>MEnsembl
rs129426256915T>SgnomAD
rs87910266717P>AEnsembl
rs76111910117P>RExAC
gnomAD
rs75101386718D>NExAC
TOPMed
gnomAD
COSV99671133
rs751013867
18D>Ycosmic curated
ExAC
TOPMed
gnomAD
rs138136236320S>GEnsembl
rs208611215520S>IgnomAD
rs76810473721R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV54747339
rs761982837
21R>Hcosmic curated
ExAC
TOPMed
gnomAD
COSV99671637
rs761982837
21R>Pcosmic curated
ExAC
TOPMed
gnomAD
rs76810473721R>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs145301007222I>FTOPMed
gnomAD
rs76893275723S>CExAC
TOPMed
gnomAD
rs76893275723S>GExAC
TOPMed
gnomAD
rs76301580823S>NExAC
TOPMed
gnomAD
rs76893275723S>RExAC
TOPMed
gnomAD
rs76301580823S>TExAC
TOPMed
gnomAD
rs77577289824H>LExAC
gnomAD
rs74564265425G>DExAC
gnomAD
rs7659023127V>M1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs208610168628P>AgnomAD
rs75206240228P>LExAC
gnomAD
rs53773238129P>H1000Genomes
ExAC
TOPMed
gnomAD
COSV54746762
rs537732381
29P>Lcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs53773238129P>R1000Genomes
ExAC
TOPMed
gnomAD
rs76546774430W>*ExAC
rs121933574130W>*gnomAD
rs121933574130W>CgnomAD
rs18179795934T>A1000Genomes
TOPMed
gnomAD
rs77641999736V>LExAC
TOPMed
gnomAD
rs77641999736V>MExAC
TOPMed
gnomAD
rs208610122137L>QTOPMed
rs208610114538V>ITOPMed
rs187546607839S>PEnsembl
rs156887953340G>VEnsembl
rs208610099841L>ITOPMed
rs37110604241L>PVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs98343534643I>NTOPMed
gnomAD
rs55575200744F>LTOPMed
rs95083478345S>NTOPMed
gnomAD
rs146676150746C>WTOPMed
gnomAD
rs102769029447C>YEnsembl
rs77200386349C>YExAC
TOPMed
gnomAD
COSV105842126
rs986946876
51Y>Ccosmic curated
TOPMed
gnomAD
rs208610054251Y>HTOPMed
rs98694687651Y>STOPMed
gnomAD
rs76142654752R>GExAC
TOPMed
gnomAD
rs77393746052R>QExAC
TOPMed
gnomAD
rs76142654752R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs208610035654S>GTOPMed
rs74901560855C>RExAC
TOPMed
gnomAD
rs77124735455C>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs77124735455C>YVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs37334672056R>LESP
ExAC
TOPMed
gnomAD
COSV54745528
rs373346720
56R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs74736696956R>WExAC
TOPMed
gnomAD
COSV54747761
rs141150330
58R>Qcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV99671046
rs752788782
58R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs135704717259T>AgnomAD
rs14506334759T>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV54750426
rs145063347
59T>Rcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs76660438060G>AExAC
TOPMed
gnomAD
rs76660438060G>DExAC
TOPMed
gnomAD
rs208609969361K>NTOPMed
gnomAD
rs208609964264Q>EEnsembl
rs75018119965A>PExAC
TOPMed
gnomAD
rs75018119965A>TExAC
TOPMed
gnomAD
rs159994729765A>VEnsembl
rs102365023467A>GTOPMed
gnomAD
rs208609938868Q>EEnsembl
rs208609932768Q>HTOPMed
gnomAD
rs143977479069V>IgnomAD
rs76177141470H>NExAC
TOPMed
rs208609910270H>REnsembl
rs76177141470H>YExAC
TOPMed
rs94501703771L>FgnomAD
rs77442611271L>RExAC
gnomAD
rs208609898972Q>PEnsembl
rs76833946173E>KExAC
gnomAD
rs115834650774V>LgnomAD
rs156887923975K>TEnsembl
COSV54747559
rs147841968
76G>Ecosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs208609871376G>RTOPMed
rs14784196876G>V1000Genomes
ExAC
TOPMed
gnomAD
rs77504307977L>MExAC
TOPMed
gnomAD
rs37024078080S>NESP
ExAC
TOPMed
gnomAD
rs159994719680S>REnsembl
COSV54750216
rs1452046473
82I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs122388406982I>VTOPMed
gnomAD
rs208609829083D>GTOPMed
gnomAD
COSV105040339
rs747357557
83D>Ncosmic curated
ExAC
TOPMed
gnomAD
rs208607443086Q>RTOPMed
rs52741920689V>I1000Genomes
ExAC
TOPMed
gnomAD
rs208607416293E>DTOPMed
rs74849355693E>QExAC
gnomAD
rs116869726497S>CgnomAD
rs126381584898G>RgnomAD
rs126381584898G>WgnomAD
rs131894167799P>QEnsembl
rs77488246099P>SExAC
gnomAD
COSV104669925
rs749339915
100G>Ecosmic curated
ExAC
gnomAD
rs561836708102Q>HVariant of uncertain significance (Ensembl)1000Genomes
ExAC
gnomAD
rs377568820103V>MESP
rs1045914104A>TTOPMed
gnomAD
rs1255590622105D>VTOPMed
gnomAD
rs781247231110G>RExAC
gnomAD
VAR_034528
rs11542503
111R>Q
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1192409501113Q>HTOPMed
gnomAD
rs2086073284114Y>CTOPMed
rs1423886244115S>FTOPMed
gnomAD
rs557331826118Y>*1000Genomes
TOPMed
rs148666325119D>EESP
ExAC
TOPMed
gnomAD
rs764151845119D>NExAC
TOPMed
gnomAD
rs764868578121Q>*ExAC
gnomAD
rs2147331108121Q>HEnsembl
rs2086072868122S>REnsembl
rs144089464123G>DESP
ExAC
TOPMed
gnomAD
rs1405838423124Q>*TOPMed
gnomAD
rs2086070964129I>TEnsembl
rs2147330828131Q>HEnsembl
rs2147330832131Q>PEnsembl
TCGA novel
rs2147330824
132A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
Ensembl
rs2147330816132A>VEnsembl
rs2086070882133M>TTOPMed
rs369119323133M>VVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1267792377134G>RgnomAD
rs1223617740134G>VgnomAD
rs765068525136A>GExAC
TOPMed
gnomAD
rs754560129138L>VExAC
TOPMed
gnomAD
rs1336634972139D>GTOPMed
gnomAD
rs1322823837139D>NgnomAD
rs766044437140L>IExAC
gnomAD
rs149508178142G>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2086070423143S>AEnsembl
COSV105279482
rs750069705
143S>Fcosmic curated
ExAC
TOPMed
gnomAD
rs374784329144S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2147330687145D>AEnsembl
rs1599944461145D>EEnsembl
COSV62831026
rs1352113939
146P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs1352113939146P>RTOPMed
gnomAD
COSV62830182
rs2086070108
149R>Qcosmic curated
TOPMed
COSV62831233
rs2086070149
149R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs1376725238151Y>CgnomAD
rs776105632151Y>HExAC
gnomAD
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