E5RGA6 · E5RGA6_HUMAN

  • Protein
    Protein tyrosine kinase 2
  • Gene
    PTK2
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

115620406080100120140
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV61782113
rs775490424
2A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs7651272073A>GExAC
gnomAD
rs7593461894A>DExAC
COSV61782940
rs886465125
5Y>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs7735883585Y>FExAC
rs7483823157D>EExAC
gnomAD
rs7723777487D>HExAC
gnomAD
rs16009284719N>HEnsembl
rs7743530029N>SExAC
gnomAD
rs210015394611N>KEnsembl
rs210015394413T>ATOPMed
gnomAD
rs19137671614P>SVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs19137671614P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs146677041315N>DTOPMed
gnomAD
rs160092745115N>KEnsembl
rs210015394016S>ATOPMed
COSV61783330
rs879079754
16S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
rs74619398317S>IExAC
TOPMed
gnomAD
rs74619398317S>NExAC
TOPMed
gnomAD
rs136347860618T>ATOPMed
gnomAD
rs37278110618T>IESP
ExAC
TOPMed
gnomAD
rs123463655319K>ETOPMed
rs75690683320T>AExAC
gnomAD
rs36881648421H>Y1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs77721163422L>VExAC
TOPMed
gnomAD
rs210015392923G>AgnomAD
rs75785750824T>AExAC
TOPMed
gnomAD
rs75269528325G>VExAC
rs18761505626M>I1000Genomes
ExAC
TOPMed
gnomAD
rs210015392226M>VTOPMed
gnomAD
COSV61786949
rs759434032
28R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
gnomAD
rs75943403228R>GExAC
gnomAD
rs210015391829S>YTOPMed
rs76618528730P>AExAC
gnomAD
rs76200794230P>HExAC
gnomAD
rs76618528730P>SExAC
gnomAD
rs210015391332A>TgnomAD
rs125262156034E>*gnomAD
rs210015391037L>*Ensembl
rs179853657545S>NgnomAD
rs77601118646N>SExAC
TOPMed
gnomAD
COSV100569426
rs374554975
47S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs210015390247S>RgnomAD
COSV61784631
rs994914693
48E>Gcosmic curated
Ensembl
rs74634924653A>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs120135098054S>ITOPMed
gnomAD
rs146043467856I>MgnomAD
rs119378230157R>KgnomAD
rs210015388462T>AgnomAD
rs119824124564V>ITOPMed
gnomAD
rs75221327165R>KExAC
TOPMed
gnomAD
rs75221327165R>TExAC
TOPMed
gnomAD
COSV61783049
rs2100147729
66G>Vcosmic curated
gnomAD
rs210014772269Q>REnsembl
rs77863366771I>VExAC
gnomAD
rs210014772072V>AEnsembl
rs14157513474S>TESP
ExAC
gnomAD
rs210014771577V>IEnsembl
COSV61785583
rs749253117
79H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs115645328481A>GgnomAD
rs75589489181A>SExAC
gnomAD
rs116323140783Y>CTOPMed
gnomAD
rs75027713985F>CExAC
gnomAD
rs90683948185F>VTOPMed
COSV61782183
rs1179929431
86R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs56777357386R>H1000Genomes
ExAC
gnomAD
rs56777357386R>L1000Genomes
ExAC
gnomAD
rs5605123189H>PEnsembl
rs5590373889H>QExAC
gnomAD
rs168716637591R>LTOPMed
COSV61783246
rs1687166375
91R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
COSV100569343
rs879216797
91R>Wcosmic curated
TOPMed
gnomAD
rs128108518594E>DgnomAD
rs75955184695V>FExAC
TOPMed
gnomAD
rs77702549895V>GExAC
gnomAD
rs76105528196H>RExAC
gnomAD
rs76686782696H>YExAC
gnomAD
COSV100569368
rs772561132
100V>Mcosmic curated
ExAC
TOPMed
gnomAD
rs1314361592101D>NgnomAD
rs1360701056102M>IgnomAD
rs747807231102M>LExAC
gnomAD
COSV61790818
rs747807231
102M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs2100147678103G>SEnsembl
COSV61783021
rs200017517
104V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1385276601106S>GgnomAD
rs868400822107V>LEnsembl
rs748770277111Y>CExAC
gnomAD
rs748770277111Y>FExAC
gnomAD
rs2100147663112E>QEnsembl
rs779404026113L>FExAC
gnomAD
rs1228582279113L>HTOPMed
rs1228582279113L>PTOPMed
rs756130164114A>VExAC
gnomAD
rs72683792115H>Y1000Genomes
ExAC
TOPMed
gnomAD
COSV61782687
rs2100147651
116P>Scosmic curated
Ensembl
rs1214040757117P>SgnomAD
rs71514694118E>KEnsembl
rs1287065872119E>*gnomAD
rs755415308122Y>HExAC
TOPMed
gnomAD
rs1318342271126I>VgnomAD
COSV61785450
rs1402739520
127R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV105239372
rs1284764718
127R>Hcosmic curated
gnomAD
rs1344432751129L>SgnomAD
rs1226596183131K>ETOPMed
gnomAD
rs1226596183131K>QTOPMed
gnomAD
rs1189962612134L>PTOPMed
gnomAD
rs1438045313136Q>HTOPMed
gnomAD
rs775128110136Q>LExAC
TOPMed
gnomAD
rs369173327138T>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs878943368138T>ITOPMed
rs369173327138T>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2100137998139E>AgnomAD
rs1479246001142P>SEnsembl
rs1169038086145N>SgnomAD
rs765564003147F>LEnsembl
COSV61793472
rs1690750608
148Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs780931637149Q>HExAC
TOPMed
gnomAD
rs1429836651153S>NVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs878966709154D>NTOPMed
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp